In vivo 23Na NMR studies of myotonic dystrophy

Myotonic dystrophy is an inherited multi-system disease. Its pathophysiology leading to muscle malfunction and damage is not well understood. ²³Na NMR spectroscopy was applied here for an in vivo comparative study of the calf muscles of 7 myotonic dystrophy patients at various stages of the disease and 11 healthy volunteers. Both the total sodium content, expressed as the ratio of the ²³Na and ¹H water signals, and the fast transverse relaxation time, T₂₁, determined from the triple quantum-filtered spectra, increased in correlation with the severity of the disease. The results demonstrate that ²³Na NMR enables the quantitation of myotonic dystrophy progression.     

Acute severe combined demyelination

We present a second case in which Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) appeared simultaneously, both in acute and fulminant form. The patient, a 10-year-old girl, presented with acute onset of coma and flaccid, areflexic quadriparesis. The elevated CSF protein levels and delayed F waves fulfilled the criteria of GBS and an MRI study revealed extensive multifocal demyelination compatible with a diagnosis of ADEM. Prompt clinical response followed by complete recovery was achieved by treatment with corticosteroids. It is suggested that acute severe combined demyelination might constitute a separate entity in which the demyelinating process, involving simultaneously the central and the peripheral nervous systems, indicates immune response against a component of the myelin of one system carrying cross-antigenicity with the other.     

In vivo 31P NMR studies of paraplegics' muscles activated by functional electrical stimulation

The bioenergetics of paralyzed muscles of spastic paraplegic patients under functional electrical stimulation (FES) was studied in vivo using ³¹P NMR. The protocol included rest, 3 min of induced tetanic isometric contraction through surface electrodes and 40 min of recovery. The continuous stimulation, the force recording and the ³¹P NMR measurements were sampled simultaneously inside the whole body imager. Normal values were found for the phosphorous metabolite ratios at rest. During contraction, prominent changes were detected including: a) accumulation of inorganic phosphate (P) accompanied by an unusually strong signal in the phosphomonoester (PME) region, b) phosphocreatine (PCr) decline, and c) a decrease in the intracellular pH. In the following recovery period the physiological state of the muscle was monitored and quantitated by ³¹P NMR. No metabolic and mechanical irreversible damage was detected in the paraplegics' muscles activated by FES under our experimental conditions.     

Recurrent retinal artery obstruction as a presenting symptom of ophthalmic artery aneurysm: a case report

Background: Retinal artery obstruction is an ophthalmic emergency requiring immediate treatment. Recurrent episodes are the result of thromboembolic seeding and necessitate diagnostic efforts to find a possible source for this seeding. The most common sources of such seeding are the valves of the heart and the carotid arteries. Case report: We describe a case of a 25-year-old man who had recurrent episodes of retinal artery obstruction due to embolic spread. Discussion: We suggest the origin of the embolic spread to be a post-traumatic ophthalmic artery aneurysm. The immediate and long-term treatment given to the patient are described, the present case is compared to earlier reports, and the unusual clinical picture and suggested treatment are discussed.     

Are special abilities in autism spectrum disorder associated with a distinct clinical presentation?

Special abilities may be common in autism spectrum disorders (ASD). The aim of this study was to investigate the clinical presentation of ASD with special abilities. Special abilities were defined based on the Autism Diagnostic Interview-Revised (ADI-R). Based on a sample of 398 children, ages 2–7 years old with ASD, 112 with special skills were compared to an age- and gender-matched group without special abilities (n = 79). The examined measures included autism symptoms severity, adaptive behaviors and head circumference percentile. Children with ASD and special abilities seemed to exhibit significantly less impaired ASD symptoms in the social, communication and stereotyped behaviors and significantly better adaptive skills than individuals with ASD without special skills. Children with ASD and special abilities had a larger head circumference percentile than children without special abilities. Special abilities occurred in 28% of the study participants. Memory skills were the most frequently reported special ability, followed by musical, visuospatial and reading skills. The authors conclude that individuals with ASD and special abilities might represent a distinct ASD subgroup with milder clinical ASD presentation. Larger head circumference in ASD was previously associated with enhanced “local” connectivity which provides detailed information processing and therefore might be related to the appearance of special abilities.     

Analysis of rearranged immunoglobulin genes indicating a process of clonal evolution in chronic lymphocytic leukaemia

Summary. Chronic lymphocytic leukaemia (CLL) is known to be a stable monoclonal neoplasm. In contrast to early studies demonstrating no more than two hybridizing immunoglobulin heavy chain bands corresponding to the two expected alleles, we have demonstrated an unexpected multiband pattern when the HindIII-digested DNA samples from 38 CLL patients were analysed by Southern blot hybridization using J_H and Cμ gene probes. In order to characterize the genetic basis for the multiband pattern, we molecularly cloned the immunoglobulin heavy chain genes of one of the patients whose leukaemic DNA sample demonstrated three hybridizing J_H bands and a loss of the germline band. The cloned rearranged immunoglobulin genes could be divided, based on the restriction mapping and the hybridization with the various probes, into two basic patterns representing two alleles. In one of the cloned rearranged immunoglobulin genes a secondary rearrangement occurred that resulted in the addition of 300 base-pair long sequence into the switch region, and the creation of a HindIII restriction site.
The results of the study suggest that clonal evolution occurs in some CLL, and that many of these neoplasms are indeed oligoclonal due to the accumulation of secondary genetic changes.     

血吸虫性阑尾炎CT征象及其诊断价值

目的 探讨血吸虫性阑尾炎的CT征象及其诊断价值。方法 收集26例经手术病理证实的血吸虫性阑尾炎患者,并随机选取36例非血吸虫性阑尾炎患者,观察并比较其CT表现,包括阑尾形态、阑尾石形态和邻近结肠壁是否钙化。结果 血吸虫性阑尾炎与非血吸虫性阑尾炎患者间阑尾增粗、阑尾壁增厚和阑尾周围炎症差异均无统计学意义（P均>0.05）,但与非血吸虫阑尾炎相比,血吸虫性阑尾炎的结肠壁钙化和阑尾石呈双轨状更多见,差异有统计学意义（P均<0.05）。结论 CT平扫加MPR和CPR示阑尾石双轨状和阑尾周围肠壁钙化有助于诊断血吸虫性阑尾炎。     

Multiple retinal arteriolar occlusions associated with coexisting primary antiphospholipid syndrome and factor V Leiden mutation

PURPOSE: To investigate a case of a young woman with both primary antiphospholipid syndrome and factor V Leiden mutation who developed multiple retinal arteriolar occlusions. METHOD: Case report of a 25-year-old woman with history and laboratory tests confirming the diagnosis of both primary antiphospholipid syndrome and factor V Leiden mutation who presented with blurred vision in both eyes. RESULTS: Multiple retinal arteriolar occlusions were observed in both of her eyes. The patient was treated first with heparin and then with warfarin. CONCLUSIONS: Primary antiphospholipid syndrome and factor V Leiden mutation, as well as other forms of thrombophilia, should be considered in the differential diagnosis of unexplained retinal vascular occlusions. The coexistence of several thrombophilic disorders may carry a particularly high risk for thrombotic manifestations.