Onset of Gilles de la Tourette's syndrome before 1 year of age

The authors report on three patients in North Dakota with an apparent onset of Gilles de la Tourette's syndrome before 1 year of age. Infantile onset may occur in 4.1% of the child patients with Tourette's disorder in that state. It is suggested that the diagnostic criteria for Tourette's disorder be revised to include patients who develop the illness before they are 1 year old.     

Management of pregnancy in sickle cell syndromes

We have seen a marked decrease in maternal and perinatal morbidity and mortality among pregnant patients with sickle cell disease. This has been the result of coordinated efforts with the obstetric and hematologic teams. Patients are counseled prior to pregnancy regarding the risks and are given the opportunity to modify their life style to prepare for the additional metabolic burden of gestation. Once pregnant, they are instructed in the techniques to recognize and avoid complications. They are observed frequently for the appearance of pain crisis and other medical and obstetric complications. If complications are identified, they should be treated aggressively. Transfusion therapy is important in the management of patients; however, prophylactic transfusion does not change outcome. Although significant laboratory techniques aid in fetal and maternal supervision, the universal fundamentals of good clinical perinatal care provided through the combined efforts of the obstetrician and hematologist contribute to the framework for the modern management and successful outcome of patients with sickle cell disease during pregnancy.     

Are schizophreniform symptoms present in attenuated form in children with Tourette disorder and other developmental disorders

Childhood schizophrenia is an increasingly difficult disorder to identify. We review the DSM-III criteria for schizophrenia and raise the possibility that schizophreniform symptoms may be present in children with Tourette disorder to identify. We review the DSM-III criteria for seen in Tourette disorder that resemble the symptoms of schizophrenia are discussed and data from selected patients are presented. This data is presented to assist clinicians in making more appropriate diagnoses (that is, avoiding the incorrect diagnosis of schizophrenia) and in refining distinctions between the symptoms of schizophrenia seen in childhood and similar symptoms seen in other developmental disorders, especially Tourette disorder.     

Lower foetal haemoglobin levels at 31- and 34-weeks post menstrual age is associated with the development of retinopathy of prematurity: PacIFiHER Report No. 1 PacIFiHER Study Group (Preterm Infants and Fetal Haemoglobin in ROP)

Background/objectivesPrevious studies have suggested that lower mean foetal haemoglobin (HbF) levels is associated with an increased risk for developing retinopathy of prematurity (ROP). Lower HbF levels may lead to high oxygen exposure to the developing retina thereby increasing the risk of acute ROP. In this study, we characterize the temporal relationship of HbF levels and the development of ROP.Subjects/methodsThis is a single institution prospective observational cohort study. Preterm infants (born <31 weeks gestational age or <1500 g) with HbF measured at birth (cord blood), 31-, 34-, and 37-weeks post menstrual age (PMA); and at least one ROP exam, were enrolled.ResultsA total of 60 preterm infants (28 females, 47%) were enrolled. At 31-, 34-, 37-weeks PMA, infants with ROP (mild = Type 2 or less severe and severe = Type 1 ROP) had statistically lower percentages of HbF than infants with no ROP (28.2 ± 15 and 9.7 ± 2.9 vs 67.1 ± 29.6; p < 0.0001; 23.3 ± 14.7 and 32.5 vs 60.1 ± 25; p < 0.005; 31.9 ± 15.8 and 41.6 vs 60.2 ± 20.0; p < 0.0019). Infants with HbF levels in the lowest tercile at 31-weeks PMA were 7.6 times more likely to develop mild and severe ROP (95% CI 2.1–24.0, p value = 0.0006) and this risk increased to 12.3 times (95% CI: 2.6-59.0, p value = 0.0017) at 34-weeks PMA.ConclusionsLow HbF levels at 31- and 34-weeks PMA are associated with significantly increased risk of developing ROP. The decrease in HbF precedes the development of ROP and may be important in its pathogenesis.Subject terms: Retinal diseases, Biomarkers     

Tyrosinase overexpression promotes ATM-dependent p53 phosphorylation by quercetin and sensitizes melanoma cells to dacarbazine

Dacarbazine (DTIC) has been used for the treatment of melanoma for decades. However, monotherapy with this chemotherapeutic agent results only in moderate response rates. To improve tumor response to DTIC current clinical trials in melanoma focus on combining a novel targeted agent with chemotherapy. Here, we demonstrate that tyrosinase which is commonly overexpressed in melanoma activates the bioflavonoid quercetin (Qct) and promotes an ataxia telangiectasia mutated (ATM)-dependent DNA damage response. This response sensitizes melanoma cells that overexpress tyrosinase to DTIC. In DB-1 melanoma cells that overexpress tyrosinase (Tyr(+) cells), the threshold for phosphorylation of ATM and p53 at serine 15 was observed at a low dose of Qct (25 muM) when compared to the mock transfected pcDNA3 cells, which required a higher dose (75 muM). Both pcDNA3 and Tyr(+) DB-1 cells demonstrated similar increases in phosphorylation of p53 at other serine sites, but in the Tyr(+) cells, DNApk expression was found to be reduced compared to control cells, indicating a shift towards an ATM-mediated response. The DB-1 control cells were resistant to DTIC, but were sensitized to apoptosis with high dose Qct, while Tyr(+) cells were sensitized to DTIC with low or high dose Qct. Qct also sensitized SK Mel 5 (p53 wildtype) and 28 (p53 mutant) cells to DTIC. However, when SK Mel 5 cells were transiently transfected with tyrosinase and treated with Qct plus DTIC, SK Mel 5 cells demonstrated a more than additive induction of apoptosis. Therefore, this study demonstrates that tyrosinase overexpression promotes an ATM-dependent p53 phosphorylation by Qct treatment and sensitizes melanoma cells to dacarbazine. In conclusion, these results suggest that Qct or Qct analogues may significantly improve DTIC response rates in tumors that express tyrosinase.     

Efficacy and safety of mercuric oxide in the treatment of bacterial blepharitis.

A double-masked, placebo-controlled, randomized study was done to assess the safety and clinical and quantitative microbiologic efficacy of 1% mercuric oxide (yellow) ophthalmic ointment in the treatment of eyelid infections, i.e., bacterial blepharitis. A total of 39 patients with bacterial counts and clinical signs indicative of eyelid infection were treated twice daily for 7 days. Clinical biomicroscopic examination and quantitative microbiologic cultures were done just prior to initiation of treatment and again on days 3 and 7. Statistical analysis revealed a significant improvement in the clinical signs, bacterial count, cure rate, and improvement rate for subjects taking the active medication, compared with those taking the placebo on days 3 and 7. In addition, the medication was well tolerated.     

Cervical internal carotid artery dissecting hemorrhage: diagnosis using MR

Two men underwent high-resolution magnetic resonance (MR) imaging of the internal carotid artery (ICA) 12 and 16 days after spontaneous dissection of this vessel. One underwent follow-up MR imaging 7 weeks later. T1-weighted images were obtained in both cases, and T2-weighted images were obtained in one patient. In both cases, the MR findings corresponded to the angiographic abnormalities. On both the T1- and T2-weighted images, there was a hyperintense lesion expanding the wall and narrowing the lumen of the ICAs. Follow-up MR imaging showed complete resolution of the mural lesion. Axial images best demonstrated the anatomic and MR signal alterations. The hyperintensity of the lesion on both T1- and T2-weighted images indicated a short T1 and a long T2 as expected in a subacute hematoma. High-resolution MR imaging, therefore, can specifically demonstrate a thrombosed carotid dissection noninvasively at least as early as 12 days. The potential to diagnose carotid dissection in the acute phase using high-field-strength MR imaging and its importance for the prevention of embolic strokes are also discussed.     

Occult cerebral vascular malformations: high-field MR imaging

Occult cerebral vascular malformations (OCVMs) have characteristic appearances on high-field magnetic resonance (MR) images. These consist of circumscribed regions of low intensity, most prominent on T2-weighted images and representing hemosiderin deposits. Interspersed within most of these lesions are multiple areas of various signal intensity patterns, which correspond to hematomas in different stages of evolution and to fibrous regions containing calcium as well as hemosiderin. Forty-six lesions were found in 19 patients (34 supratentorial and 12 infratentorial). The supratentorial lesions tended to be subcortical or periventricular. Computed tomography depicted 24 of the 46 lesions demonstrated by high-field MR. Comparison of images obtained with both low-field MR (0.12 T and 0.35 T) and high-field MR (1.5 T) revealed that high-field MR imaging was superior in depicting OCVMs. High-field MR appears to be both sensitive and specific for OCVMs and may obviate the need for possible biopsy of these lesions.