Nocturnal variant of benign myoclonic epilepsy of infancy: a case series

Myoclonus is a brief, rapid, involuntary muscle jerk originating in the central nervous system that can be physiological or a symptom of disease. We report a group of five children with excessive myoclonic jerks, only during sleep, and abnormal EEG during the events. Although only one third of the events had EEG epileptiform correlate, the presence of myoclonus without epileptiform EEG correlate has been described in patients with benign myoclonic epilepsy of infancy. We hypothesize that these findings may represent a variant of benign myoclonic epilepsy of infancy.     

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.     

Computed tomographic features of puerperal ovarian vein thrombosis

Puerperal ovarian vein thrombosis is a dangerous complication of childbirth and often leads to inferior vena cava thrombosis and multiple pulmonary emboli. Computed tomography of the abdomen is useful in early diagnosis. Two patients with typical computed tomographic features are presented.     

Comparison of Q-switched Nd:YAG laser alone versus its combination with ultrapulse CO2 laser for the treatment of black tattoo

Background: Q-switched lasers are conventionally used for the treatment of black tattoo. However, they require multiple sittings, and the response may be slow due to competing epidermal pigment in dark skin. Objective: To compare the efficacy of Q-switched Nd:YAG laser alone with its combination with ultrapulse CO₂ for the removal of black tattoo. Materials and methods: Sixty patients with black tattoo were randomized into two groups viz., group A and group B. Group A was treated with QS Nd:YAG laser (1064 nm) alone, and group B received combination of ablative ultrapulse CO₂ followed by fixed-dose QS Nd:YAG laser (1064 nm), at 6-week interval for a maximum of 6 sittings. After each sitting, 3 independent physicians noted percentage of improvement that was evaluated using visual analogue scale (VAS) and grading system for tattoo ink lightening (TIL). Results: Combination laser (group B) showed statistically significant improvement in mean VAS score in the last 2 noted visits as compared to 1st session (p < 0.007, p < 0.001) and TIL mean score in last three noted visits as compared to 1st session (p < 0.008, p < 0.020, and p < 0.004). There was no statistically significant difference in the side effect profile of both the groups. Conclusion: For refractory professional tattoos, combination of ultrapulse CO₂ laser and QS Nd:YAG laser is superior to QS Nd:YAG laser alone.     

Magnetic resonance imaging-guided percutaneous biopsy of musculoskeletal lesions

BACKGROUND: Bone, soft-tissue, and articular lesions are often well visualized by magnetic resonance imaging. Our goal was to evaluate the diagnostic performance of magnetic resonance imaging-guided biopsies of selected musculoskeletal lesions. METHODS: In this retrospective case series, forty-five consecutive biopsies were performed in an open mid-field 0.5-T interventional magnetic resonance imaging unit with a real-time guidance system. The biopsies were performed at twenty bone, eighteen extra-articular soft-tissue, and seven intra-articular soft-tissue sites. The main reasons for using magnetic resonance imaging guidance were the need to improve lesion conspicuity compared with that provided by other imaging modalities, the need for site-specific targeting within the lesion, and the need for real-time guidance. Samples were obtained with fine-needle aspiration, core-needle biopsy, or a combination of these techniques. An independent reference standard was used to confirm the final diagnosis. Diagnostic performance was evaluated on the basis of the diagnostic yield (the proportion of biopsies yielding sufficient material for pathological evaluation) and diagnostic accuracy (sensitivity, specificity, positive predictive value, and negative predictive value). Complications were identified as well. RESULTS: The diagnostic yield was 91% (forty-one of forty-five biopsies yielded sufficient material for a diagnosis) overall, 95% (nineteen of twenty) for the bone lesions, 94% (seventeen of eighteen) for the extra-articular soft-tissue lesions, and 71% (five of seven) for the intra-articular soft-tissue lesions. With regard to the diagnostic accuracy, the sensitivity was 0.86, the specificity was 1.00, the positive predictive value was 1.00, and the negative predictive value was 0.76 in the overall group. The respective values were 0.92, 1.00, 1.00, and 0.86 for the bone lesions; 0.77, 1.00, 1.00, and 0.57 for the extra-articular soft-tissue lesions; and 1.00, 1.00, 1.00, and 1.00 for the intra-articular soft-tissue lesions. There was one complication: exacerbation of neuropathic pain related to a biopsy of a peripheral nerve sheath tumor. CONCLUSIONS: Magnetic resonance imaging-guided percutaneous biopsies of musculoskeletal lesions for which other imaging modalities might be inadequate have a good diagnostic performance overall. The performance can be very good for bone lesions, moderate for extra-articular soft-tissue lesions, and fair for intra-articular soft-tissue lesions.     

Hexamethyldisiloxane-based nanoprobes for (1) H MRI oximetry

Quantitative in vivo oximetry has been reported using ¹⁹F MRI in conjunction with reporter molecules, such as perfluorocarbons, for tissue oxygenation (pO₂). Recently, hexamethyldisiloxane (HMDSO) has been proposed as a promising alternative reporter molecule for ¹H MRI‐based measurement of pO₂. To aid biocompatibility for potential systemic administration, we prepared various nanoemulsion formulations using a wide range of HMDSO volume fractions and HMDSO to surfactant ratios. Calibration curves (R₁ versus pO₂) for all emulsion formulations were found to be linear and similar to neat HMDSO for low surfactant concentrations (< 10% v/v). A small temperature dependence in the calibration curves was observed, similar to previous reports on neat HMDSO, and was characterized to be approximately 1 Torr/ °C under hypoxic conditions. To demonstrate application in vivo, 100 µL of this nanoemulsion was administered to healthy rat thigh muscle (Fisher 344, n = 6). Dynamic changes in mean thigh tissue pO₂ were measured using the PISTOL (proton imaging of siloxanes to map tissue oxygenation levels) technique in response to oxygen challenge. Changing the inhaled gas to oxygen for 30 min increased the mean pO₂ significantly (p < 0.001) from 39 ± 7 to 275 ± 27 Torr. When the breathing gas was switched back to air, the tissue pO₂ decreased to a mean value of 45 ± 6 Torr, not significantly different from baseline (p > 0.05), in 25 min. A first‐order exponential fit to this part of the pO₂ data (i.e. after oxygen challenge) yielded an oxygen consumption‐related kinetic parameter k = 0.21 ± 0.04 min^?1. These results demonstrate the feasibility of using HMDSO nanoemulsions as nanoprobes of pO₂ and their utility to assess oxygen dynamics in vivo, further developing quantitative ¹H MRI oximetry. Copyright © 2011 John Wiley & Sons, Ltd.     

Fibrillary renal deposits and nephritis.

Fibrillary renal deposits and nephritis. The authors have studied 8 patients whose glomeruli contain abundant fibrils in their mesangial matrix and basement membranes. Although the location of these fibrils is very similar to that of amyloid, they are about twice the size of amyloid fibrils, averaging 20 nm in width, and fail to react as amyloid does with special stains. Immunofluorescence-microscopic studies are usually positive with antiserums to IgG, often IgM, and in some cases IgA, and also kappa and lambda light chains, C3, and C4. The fibrils are associated with diffuse mesangial widening and increased mesangial matrix strands. Although peripheral glomerular capillary walls appear to be spared initially, their eventual involvement leads to glomerular capillary collapse and glomerular obsolescence. Crescent formation occurred in 5 cases, focally in 3 and diffusely in 2. Tubular basement membrane involvement was seen in 1 case. These patients exhibit hematuria, and proteinuria, and often hypertension and renal insufficiency. Proteinuria was in the nephrotic range in 3 patients in whom involvement of glomerular capillary basement membranes was extensive. Unless electron microscopy is applied to renal biopsies, these cases may be considered to represent mesangiocapillary or rapidly progressive glomerulonephritis, or amyloidosis. The nature of these fibrils is as yet not determined. It is likely that they have been called "atypical amyloidosis" in the past.     

Human subcutaneous dirofilariasis in India: a report of three cases with brief review of literature

Human subcutaneous dirofilariasis is a rare infection caused by filarial worms of the genus Dirofilaria. The parasites are transmitted to man by mosquitoes and the infection is manifested as subcutaneous nodules. Excision of the lesion is both diagnostic and therapeutic. Hereby we report three cases of human subcutaneous dirofilariasis. The worms were sent to our department for identification over a period of four years (2006-2009). Of these three patients, two men and one woman were between 15 and 45 years of age. In two cases, the infection manifested as a nodule on face, in one case near lower eyelid and in the other on the cheek, while in the third case as an itchy nodule on the abdomen. It is emphasized that both clinicians and microbiologists should have an increased awareness of this entity and include dirofilariasis in the differential diagnosis of patients presenting with subcutaneous nodules.