A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase.     

Papillary squamous cell carcinoma versus verrucous squamous cell carcinoma of the head and neck

Papillary squamous cell carcinoma and verrucous squamous cell carcinoma of the head and neck may be confused. The clinicopathological profile of the two neoplasms is presented and the differential diagnosis is discussed. A correct diagnosis is imperative in order to institute the most appropriate treatment.     

Transverse cerebellar diameter in small-for-gestational-age fetuses: pregnancy dating is possible only when growth retardation is secondary to uteroplacental insufficiency.

The objective of this study was to establish whether measurement of the transverse cerebellar diameter to determine gestational age differs in small-for-gestational-age fetuses with normal or abnormal Doppler velocity waveforms. Our secondary objective was to compare the efficacy of measurement of transverse cerebellar diameter with that of femur length in pregnancy dating among small-for-gestational-age fetuses. A total of 107 small-for-gestational-age fetuses with established dates and free from structural and chromosomal abnormalities were considered for this study. According to the Doppler results, fetuses were divided into two groups: group A (n = 64), with normal Doppler values as expressed by a ratio of pulsatility indices between the umbilical artery and middle cerebral artery of 95th centile. Measurements of transverse cerebellar diameter and femur length were compared to previously established 95th centile prediction intervals.In both groups of small-for-gestational-age fetuses, the values for transverse cerebellar diameter were lower than in normally grown fetuses after normalization for gestational age. The difference was more evident in group A (p 相似文献   

Functional lateralization of the sensorimotor cortex in patients with schizophrenia: effects of treatment with olanzapine.

BACKGROUND: Earlier cross-sectional studies with functional magnetic resonance imaging (fMRI) in treated patients with schizophrenia have reported abnormalities of cortical motor processing, including reduced lateralization of primary sensory motor cortex. The objective of the present longitudinal study was to evaluate whether such cortical abnormalities represent state or trait phenomena of the disorder. METHODS: Seventeen acutely ill, previously untreated patients were studied after 4 weeks and after 8 weeks of olanzapine therapy. Seventeen matched healthy subjects served as control subjects. All subjects underwent two fMRI scans 4 weeks apart during a visually paced motor task using a simple periodic block design. Functional magnetic resonance imaging data were analyzed in Statistical Parametric Mapping (SPM99). Region of interest analyses were used to determine a laterality quotient (an index of lateralization) of motor cortical regions. RESULTS: The fMRI data indicated that patients had reduced activation of the primary sensory motor cortex at 4 weeks but not at 8 weeks; however, the laterality quotient in the primary sensory motor cortex was reduced in patients at both time points. CONCLUSIONS: These results suggest that some cortical abnormalities during motor processing represent state phenomena, whereas reduced functional lateralization of the primary sensory motor cortex represents an enduring trait of schizophrenia.     

Idiopathic midline destructive disease: fact or fiction

The differential diagnosis of a progressive destructive lesion of the midface and upper airway region includes both neoplastic and non-neoplastic entities; of these, the majority of cases prove to be either Wegener's granulomatosis or lymphoma. Historically, these sorts of necrotizing midfacial lesions were diagnosed clinically, and as a consequence a variety of overlapping categories of disease sprang up. As pathologic examination of biopsy material became both more widespread and (particularly in the last several years) more sophisticated, many lesions previously thought to be of mysterious origins have proven to be examples of lymphoma (in particular, sinonasal natural killer cell or T cell [NK/T] lymphomas). At present, the evaluation of a patient with a progressive destructive process involving the midface region should include imaging studies (to delineate the extent of disease) as well as biopsy (with sampling of lesional tissue for application of sophisticated testing--including immunohistochemical studies, flow cytometry, or molecular studies as necessary--to exclude the possibility of a NK/T cell lymphoma). There remain occasional patients whose necrotizing midfacial lesions continue to be difficult to classify despite the application of extensive testing; such patients are sometimes described as suffering from the nebulous entity of "idiopathic midline destructive disease". While it remains to be seen whether such patients will ultimately be assigned to other diagnostic groups (as, for example, occult toxic injuries--as in the case of cocaine abusers who are not forthcoming with regard to their drug usage), it seems likely that "idiopathic midline destructive disease" is a diagnostic term of questionable validity which should be used only with extreme reticence in modern practice.     

Grisel's syndrome in head and neck practice

Grisel’s syndrome is a rare condition of uncertain etiology characterized by a non-traumatic atlanto-axial subluxation, secondary to an infection in the head and neck region. The authors discuss the history, pathogenesis, terminology, classification, clinical characteristics, diagnosis, treatment, prognosis and prevention of this syndrome.     

Reintervention in abdominal surgery. Personal experience in emergency

The Authors, regarding their emergency surgical experience, examine the need of reintervention in abdominal surgery at a distance (operations carried out not less than 30 days after previous procedure), a controversial situation, usually dealt with empirical approach. Such a feature is not rare in the experience of a surgeon; nevertheless still few are the studies concerning the severity of the disease and related complications requiring surgery. Occasionally it is really difficult--quite impossible- in these often complex clinical conditions, to identify the aetiology and even to perform a pre-operative diagnosis. Sometimes other factors may inhibit an exhaustive evaluation (acute onset of the symptoms, time spent from the former procedure, choice of the patient to refer to another surgeon) thus conditioning an adequate review of the first surgical act. The Authors study the more frequently observed clinical features, post-surgical abdominal adhesive syndrome, cancer recurrence, incisional hernia. Former surgical diseases and the latter one may be the same, but not necessarily. Surgery is only a feature of the treatment (multimodal treatment) in case of neoplastic recurrence. Morbidity and mortality concerning the latter surgical procedure are higher than the mere sum of those related to both the former and last operation performed (pre-operative disease understaging). Finally it must be stressed the need for early and accurate diagnosis to clearly steer the choice and course of surgical action.