UNUSUAL BILIARY FISTULA

Agenesis of gall bladder is a clinical rarity, as most of the diagnoses are made at autopsy. Preoperative diagnosis of this anomaly is fraught with follies. External biliary fistulae are usually result of complications of trauma or biliary surgery. Internal fistulae on the other hand may result from erosion of wall by a stone, cancerous growth or peptic ulcer. Sites of opening of internal fistulae are stomach, duodenum, jejunum, ileum or colon. These should be suspected if gas shadows are seen in biliary tree.KEY WORDS: Biliary calculi, Choledochogastric fistula, Gall bladder agenesis, Pneumobilia     

Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis

Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM. Patients may develop a wide spectrum of neurological abnormalities from prenatal-onset white matter disease to juvenile or adult-onset ataxia and dementia, sometimes with ovarian insufficiency. The pattern of diffuse white matter abnormalities on MRI of the head is often diagnostic. Neuropathological abnormalities indicate a unique and selective disruption of oligodendrocytes and astrocytes with sparing of neurons. Marked decrease of asialo-transferrin in cerebrospinal fluid is the only biochemical abnormality identified thus far. Eukaryotic translation initiation factor 2B (eIF2B) mutations cause a decrease in guanine nucleotide exchange activity on eIF2-GDP, resulting in increased susceptibility to stress and enhanced ATF4 expression during endoplasmic reticulum stress. eIF2B mutations are speculated to lead to increased susceptibility to various physiological stress conditions. Future research will be directed towards understanding why abnormal control of protein translation predominantly affects brain glial cells.     

Elevated CNS average diffusion constant in Fabry disease

AIMS: Evaluation of the average brain diffusion constant in Fabry disease. INTRODUCTION: Fabry disease is an X-linked recessive lysosomal storage disorder secondary to deficiency of alpha-galactosidase A and resulting in excess tissue globotriaosylceramide, particularly in cerebral blood vessels. This has been associated with cerebral hyperperfusion. Increased tissue perfusion should increase interstitial water by the Starling relationship. This hypothesis was examined by measuring the average CNS diffusion constant (Dav) in patients with Fabry disease using diffusion-weighted magnetic resonance imaging (DWI). METHODS: Axial DWI was performed at b=0 seconds/mm2 and b = 1000 seconds/mm2 (TR (pulse repetition time), 10000; TE (time to echo), 100; FOV (field of view), 22 cm: 3 mm interleaved slices; image matrix, 128 x 128; GE Signa, 1.5T). Eight healthy male volunteers (age range, 21-47 years) and 17 hemizygous patients with Fabry disease (age range, 19-49 years) were examined. Following DWI acquisition, the trace image and the diffusion distribution map were calculated. The diffusion distribution curve was then fitted by a multi-modal Gaussian curve, allowing estimation of Dav. RESULTS: The Dav was 0.743 +/- 0.024 x 10(-5) cm2/second (mean +/- SD) for patients with Fabry disease and 0.726 +/- 0.014 x 10(-5) cm2/second for the control group. Dav was significantly increased in the patients with Fabry disease compared with the controls (p = 0.029) CONCLUSIONS: The elevated Dav indicates increased brain tissue water diffusivity in patients with Fabry disease, a finding consistent with increased extracellular water and increased cerebral blood flow.     

Acquired pMHC I Complexes Greatly Enhance CD4~+ Th Cell’s Stimulatory Effect on CD8~+ T Cell-Mediated Diabetes in Transgenic RIP-mOVA Mice

CD4+ helper T (Th) cells play pivotal roles in induction of CD8+ CTL immunity. However, the mechanism of CD4+ T cell help delivery to CD8+ T cells in vivo is still elusive. In this study, we used ovalbumin (OVA)-pulsed dendritic cells (DCOVA) to activate OT-II mouse CD4+ T cells, and then studied the help effect of these CD4+ T cells on CD8+ cytotoxic T lymphocyte (CTL) responses. We also examined CTL mediated islet β cell destruction which led to diabetes in wild-type C57BL/6 mice and transgenic rat insuli...     

On the variability of QRS time-duration in magnetocardiographic recordings

High resolution electrocardiography (HRECG) recordings have already shown an increased beat-to-beat microvariability of the QRS duration of the terminal QRS in patients with a history of ventricular tachycardia (VT). The purpose of this study is to detect QRS-duration microvariability with magnetocardiographic (MCG) recordings in normals, patients with coronary heart disease (CHD), patients with a history of myocardial infarction (MI), and VT patients. QRS microvariability is calculated as the variance of time-shifts of single beats respectively to the average of all beats. The average over all channels of the MCG is performed. QRS microvariability was evaluated from 55-channel MCG in 15 normal persons, in 12 patients with CHD, in 13 patients with MI, and in 10 patients with VT. We found a significantly higher microvariability in patients with MI compared to normals. The highest microvariability was found in VT patients.     

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications

Background

Type 2 Gaucher disease is a rare and progressive subtype of this lysosomal storage disorder, marked by rapid, early-onset neurodegeneration. Distinguishing type 2 from types 1 and 3 Gaucher disease has remained challenging, due to the lack of a clear correlation between phenotype and enzymatic activity or genotype. β-glucocerebrosidase, the enzyme deficient in Gaucher disease, also has an essential role in maintaining epidermal permeability function, by regulating the ratio of ceramides to glucosylceramides in the stratum corneum of the skin.

Objectives

To further assess the diagnostic utility of epidermal evaluations in distinguishing patients with type 2 Gaucher disease in an expanded cohort.

Study design

Epidermal samples were evaluated from twenty children with type 2, three patients with type 3 Gaucher disease and two adults with type 1 Gaucher disease with different clinical manifestations and genotypes. Electron microscopy on ruthenium tetroxide post-fixed tissue was performed.

Results

Compared to controls and subjects with type 1 and type 3 Gaucher disease, only patients with type 2 Gaucher disease displayed characteristic electron dense, non-lamellar clefts and immature-lamellar membranes.

Conclusion

The appearance of characteristic alterations in epidermal ultrastructure provides an early and specific diagnostic tool to help in distinguishing type 2 from the other types of Gaucher disease.