Chromosome Breakage and Sister Chromatid Exchange Frequencies in Scleroderma

Peripheral lymphocytes from 3 scleroderma patients with systemic disease and from 3 normal controls were examined for frequencies of chromosomal aberration and sister chromatid exchange (SCE). Significant increases in the levels of chromosomal anomaly and SCE were found for all 3 patients. These results are discussed in terms of the diagnostic potential of SCE in scleroderma and the possible etiologic role of cytogenetic instability in this disease.     

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

INTRODUCTION—Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms.
METHODS—We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin.
RESULTS—Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient).
CONCLUSIONS—Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.


Keywords: CDG; phosphomannomutase; phosphomannose isomerase; dolichyl-phosphate glucose:mannose 9 N-acetylglycosamine 2 glucosyltransferase     

Pulp revascularization for immature replanted teeth: a case report

Immature avulsed teeth are not usually treated with pulp revascularization because of the possibility of complications. However, this therapy has shown success in the treatment of immature teeth with periapical lesions. This report describes the case of an immature replanted tooth that was successfully treated by pulp revascularization. An 8‐year‐old boy suffered avulsion on his maxillary left lateral incisor. The tooth showed incomplete root development and was replanted after 30 minutes. After diagnosis, revascularization therapy was performed by irrigating the root canal and applying a calcium hydroxide paste and 2% chlorhexidine gel for 21 days. In the second session, the intracanal dressing was removed and a blood clot was stimulated up to the cervical third of the root canal. Mineral trioxide aggregate was placed as a cervical barrier at the entrance of the root canal and the crown was restored. During the follow‐up period, periapical repair, apical closure and calcification in the apical 4 mm of the root canal was observed. An avulsed immature tooth replanted after a brief extra‐alveolar period and maintained in a viable storage medium may be treated with revascularization.     

Diagnosis and treatment of diverticular disease

Background: With the aim of resolving the current controversy over the diagnosis and treatment of diverticular disease, this consensus development conference set out to summarize the actual state of the art. Methods: A multidisciplinary panel of international experts (n= 16) was selected to take part in the consensus process. Prior to the conference, all experts were asked to answer a series of questions on diverticular disease. The consensus statement compiled out of these evaluations was modified during a joint meeting of the panel members, then presented for discussion in a public session, and finally revised by the expert panel. The finalized statement was mailed to all panel members for approval (Delphi method). Results: Asymptomatic diverticulosis, diverticular disease (with actual or recurrent symptoms), and complicated diverticular disease were defined separately. No agreement was reached on whether barium enema or colonoscopy is the better choice as an initial diagnostic tool in uncomplicated cases. In complicated cases, computed tomography is recommended for diagnosis. After two attacks of diverticular disease, elective resection should be considered. For patients in whom a concomitant carcinoma cannot be excluded and those with chronic complications (fistula, stenosis, or bleeding) surgery is also indicated. Laparoscopic sigmoid colectomy is recommended only for uncomplicated and, after percutaneous drainage of abscesses, Hinchey stage I and II cases. Conclusions: Laparoscopic surgery has already begun to influence the management of diverticular disease, but the randomized controlled trials needed to support therapy decisions are largely missing.     

Treatment of first restenosis by recurrent angioplasty. Immediate results and angiographic follow-up after 6 months]

This report summarises the authors' experience of 421 patients treated for a first restenosis by repeat conventional balloon angioplasty with a high 6 months angiographic follow-up (84%). The immediate results were significantly less than those obtained during the same period with initial angioplasty procedures (94.5% success and 0.9% complications without any deaths during the hospital period). The 39.9% recurrent restenosis rate, on the other hand, is the same as observed after a first procedure. The risk factors of a second restenosis seem to be different from those of a first restenosis. A shorter interval between the first and second angioplasty (< 3 months) was associated with a 55% risk of restenosis compared with only 36% when the interval was > 3 months. Two operative factors were associated with a high risk of recurrent restenosis: a maximum inflation pressure > 7 atm and > or = 3 balloon inflations. These results seem to be important and should be taken into consideration when deciding on the management of patients presenting with a first restenosis.