Retrograde leptomeningeal venous approach for dural arteriovenous fistulas at foramen magnum

A 72-year-old man presented with sudden right homonymous hemianopsia. Work-up imaging revealed a left occipital haematoma and an arteriovenous fistula supplied by the meningeal branches to the clivus from the left vertebral artery (VA) with a rostral venous reflux into cortical veins. A microcatheter was advanced through brainstem veins into the venous collector. A compliant balloon was placed in the left VA facing the origin of feeders. The balloon was inflated to protect the vertebrobasilar circulation from embolic migration. Onyx was injected by the transvenous catheter. Control angiogram revealed exclusion of the lesion.Informed consent was obtained from the patient.     

Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb

OBJECTIVE: To establish a rapid differential diagnosis of hemoglobin (Hb) Queens and Hb Siam from other clinically relevant variants. DESIGN AND METHODS: Molecular and hematological features associated with two pregnant Thai women who were mistaken for Hb S were investigated. A simultaneous DNA diagnosis based on multiplex allele specific PCR approach was developed and tested with other common variants. RESULTS: Apart from mild anemia, the two subjects were generally healthy. DNA analysis identified that they were respectively carriers of Hb Siam [alpha15(A13)Gly-Arg] and Hb Queens [alpha34(B15)Leu-Arg]. A successful application of the multiplex allele specific PCR for differential diagnosis was demonstrated. CONCLUSION: Diagnosis of these clinically relevant hemoglobinopathies is problematic in the routine setting, and the method developed should prove useful in complementing routine Hb analysis for providing accurate diagnosis.     

Coexistence of Southeast Asian ovalocytosis and beta-thalassemia: a molecular and hematological analysis

We describe hematological and molecular characterization of a Thai female who had Southeast Asian ovalocytosis (SAO) associated with beta+-thalassemia trait. The proband had mild microcytosis with Hb 12.9 g/dl, Hct 35.8%, MCV 74.4 fl, MCH 26.8 pg, MCHC 36.0 g/dl, and elevated Hb A2 (5.6%), characteristics of beta-thalassemia trait. Peripheral blood film examination revealed prominent ovalocytosis. However, a one-tube osmotic fragility (OF) test commonly used for thalassemia screening was negative and a normal OF curve was observed. Further polymerase chain reaction (PCR) analyses identified the beta(-28A-G) mutation in the beta-globin gene and a 27 bp deletion in erythrocyte band 3 protein gene, indicating a genetically compound heterozygote. Hematological data of the proband was comparatively presented with those of eight female and 15 male carriers of pure beta-thalassemia with the same mutation. The finding demonstrates that although the association of the SAO and beta-thalassemia does not produce a more severe clinical picture, this could lead to a mis-screening of beta-thalassemia using an OF test as a primary screening test. Additional blood film examination followed by PCR could help in the detection of this unusual genetic interaction in the region.     

Molecular characterization and origins of Hb Constant Spring and Hb Paksé in Southeast Asian populations

Hemoglobin Constant Spring (Hb CS) and Hb Paksé, two abnormal Hbs characterized by elongated α-globin chains resulting from mutations of the termination codon in the α2-globin gene, are the most prevalent nondeletional α-thalassemias in Southeast Asia. To determine the origins of these two variants in the region, we have determined α-globin gene haplotypes associated with these two variants on 120 Thai, eight Cambodian, and six Laos alleles, and the results were compared with those reported previously for the Chinese and Mediterranean. Five haplotypes were found to be associated with 131 α^CS genes examined, whereas a single haplotype was linked to all the α^Paksé genes in these Southeast Asian populations. All the α^CS haplotypes differed from those of the Mediterranean, but one of them was similar to a Chinese α^CS gene reported previously. It is concluded that there are multiple origins of the α^CS and a single origin of the α^Paksé mutations in Southeast Asia. Hematological findings confirm the mild thalassemia intermedia phenotypes for pure homozygous Hb CS and homozygous Hb CS with Hb E heterozygote and Hb E homozygote. The appearance of Hb CS peak by high-performance liquid chromatography analysis indicates the ability to form a tetrameric Hb molecule between the α^CS and β^E chains, leading to a novel derivative with similar characteristics to Hb CS.     

A new skin radioprotective agent Diethon (experimental study)

Results are presented on investigations of diethone--a new pharmaceutical to prevent and treat radiogenic skin injuries. Diethone is a synthetic antioxidant of the dihydropyridine-line. In experiment on animals the preparation was used in form of an ointment. Irradiation was done with beta- and soft roentgen rays in doses of 20 to 60 Gy on conditions of a tele- or contact radiotherapy. A reduction of intensity and duration of radio reactions by more than 50% and a slighter occurrence of radio reactions were shown. The protecting effect of diethone is much stronger than that of mexamine, cystamine and other radioprotectors. Application of this preparation in treatment of radiogenic dermatitides results in relief of inflammation appearances, in shortening of recovery-time, and in accelerated skin regeneration. The intravital investigations of skin by means of contact-luminescence-microscope and investigations using light- and electron-microscopy did not give any alterations in structure of regenerated skin in diethone-treated animals compared with control. Also a better conservation of protected intracellular membranes especially of mitochondrial membranes were seen. Generally penetration of 14C-diethone into skin occurs within two hours after application of ointment. It can not be found hardly within inner media.     

Optical coherence tomography in a patient with chloroquine-induced maculopathy

We herein report the optical coherence tomography (OCT) findings in a case of chloroquine-induced macular toxicity, which to our knowledge, has so far not been reported. A 53-year-old lady on chloroquine for treatment of rheumatoid arthritis developed decrease in vision 36 months after initiation of the treatment. Clinical examination revealed evidence of retinal pigment epithelial (RPE) disturbances. Humphrey field analyzer (HFA), fundus fluorescein angiography (FFA) and OCT for retinal thickness and volume measurements at the parafoveal region were done. The HFA revealed bilateral superior paracentral scotomas, FFA demonstrated RPE loss and OCT revealed anatomical evidence of loss of ganglion cell layers, causing marked thinning of the macula and parafoveal region. Parafoveal retinal thickness and volume measurements may be early evidence of chloroquine toxicity, and OCT measurements as a part of chloroquine toxicity screening may be useful in early detection of chloroquine maculopathy.     

Findings in Child Deaths Registered as Sudden Infant Death Syndrome (SIDS) in Madison, Wisconsin

A review of a sequential series has been carried out on 0 Madison infants whose deaths had been registered as SIDS. In 18% it was possible to identify lesions that could have given a diagnosis other than SIDS on these same infants. When the cases were assessed on a multifactorial basis, 67% of the infants had a variety of lesions present, which in combination would probably have made their deaths explicable. It was only in children dying before the age of 18 weeks that more than half of the deaths were not explicable. The generally accepted concept of SIDS as a completely unexplained death would appear to apply only if the term is confined to a single aspect of pathology—the terminal anatomic state. If the total pathologic situation of the child is taken into consideration, the diagnosis of a completely unexplained death applies to only about a third of the cases examined in Madison. The current autopsy approach to sudden and unexpected deaths from a causal viewpoint requires critical reappraisal.