Ehlers-Danlos syndrome – vascular type (ecchymotic variant): cutaneous and dermatopathologic features

Ehlers-Danlos syndrome – vascular type, the only lethal form, is rarely reported in dermatology literature. It is characterized by translucent, atrophic skin, easy bruising, arterial, intestinal and/or uterine fragility manifesting as varicose veins, aneurysms and vascular/visceral/uterine rupture. As its dermatopathologic features are not well elucidated, diagnosis is often made after a catastrophic complication or at autopsy. This 36 year-old non-consanguineous male had brown-black plaques with atrophy and frequent ulceration over legs and dorsal feet and tortuous varicose veins around ankles for the past 15 years. Perivenous skin was translucent and hypopigmented. He had multiple and ecchymotic keloids and small atrophic, pityriasis versicolor-like lesions over trunk. He did not have hypermobile/hyperextensible skin and joints and showed no systemic or investigative abnormality. Histopathologic features of atrophic lesion included blood extravasation in atrophic epidermis/dermis, focal clustering and dilatation of blood vessels, malformed vessel walls, abundant hemosiderin in the dermis and homogenously stained/whorled patterned collagen especially around blood vessels. Pathology of keloidal lesion showed new collagen and vascular fragility. These histopathologic features appear of diagnostic value especially in patients who have compatible clinical findings but cannot afford confirmation by biochemical testing for abnormal synthesis of type III procollagen or identification of mutations in the COL3A1 gene.     

Acute leriche syndrome due to paradoxical embolism.

Paradoxical embolism, describing the passage of venous or right-sided cardiac thrombus into the arterial or systemic circulation through patent foramen ovale, is an uncommon cause of acute arterial occlusion. Here, we report acute Leriche syndrome in a young woman attributable to paradoxical embolism. Ischaemia, patent foramen ovale, and venous thrombosis were the triad of evidence for paradoxical embolism.     

Results of surgery in 144 cases for aneurysms of the infra-renal abdominal aorta in patients over 75 years of age

114 patients aged over 75 underwent surgery for aneurysm of the infra-renal abdominal aorta in the University Teaching Hospitals in Nantes and Angers between 1979 and 1988. A retrospective study of these patients was performed to evaluate the immediate and long-term results. The mean age of the patients was 79 (+/- 4) years, the oldest being 94. 70% were men. Half of the patients underwent emergency or semi-emergency surgery (52 cases). Cardiovascular factors (in particular coronary insufficiency in 17% of cases) were the most common risk factors. In all cases grafting after laying open the aneurysm was performed, with an aorto-aortic graft in 32% of patients, an aorto-iliac graft in 37% or an aorto-bifemoral graft in 27% of patients. Combined intestinal revascularisation was performed in 10% of case either involving the inferior mesenteric artery or at least one internal iliac artery; renal revascularisation was performed in 3.5% of cases. 75% of patients underwent simple grafting. The mean duration of hospitalisation was 14 days (+/- 6), including a mean period of 7 days in ICU. 36 patients (31%) died in the first post-operative month. The mortality rate in patients who underwent emergency surgery for a complication of the aneurysm (essentially rupture) was 61% versus 6' for elective surgery. 96% of the patients who survived the first post-operative month were independent at the end of the study or at the time of their death.(ABSTRACT TRUNCATED AT 250 WORDS)     

One stage surgical management of hydatid cyst of lung &; liver—by right thoracotomy &; phrenotomy

Introduction Hydatid cysts of the lung are quite frequent in our country. Some patients have additional cysts in the liver. Though most of the liver cysts remain asymptomatic for long time, but may be symptomatic with increasing size. Surgical removal is the treatment of choice for both lung & liver cysts. Aim of the study was to establish suitability of one stage surgery for pulmonary & hepatic hydatid cysts. Methods From 1996 through 2003 we operated on 216 pulmonary hydatid cysts, out of which 42 patients had hydatid cysts in the right lung as well as in the right lobe of liver. Right thoracotomy was done to remove the lung hydatids followed by phrenotomy to remove the liver cysts. Results Right thoracotomy was done in 42 patients having hydatid cysts of lung & liver. In 36 patients, cysts were removed, bronchial leaks were sutured & residual cavities were obliterated. Out of rest 6 patients, having dense adhesions or destruction of pulmonary parenchyma, 4 had segmentectomy & 2 had lobectomy. Right phrenotomy was then done with radial incision above the palpated liver cysts. Hydatid cyst was removed from liver. Cavity and remaining pericystic liver tissue was inverted with sutures. Water seal chest drain & subdiaphragmatic drain were placed. Post operative albendazole was continued for 3 months in the dose of 10–20 mg/kg with a gap of 2 weeks after each month. Post operative recovery was uneventful in most of the cases. However, air leak continued for almost 3 weeks in 4 patients & 3 months in one patient. There was no death. Conclusion Surgical management of pulmonary and hepatic hydatids with one stage right thoracotomy & phrenotomy is a suitable option. It avoids additional laparotomy and thereby additional cost & hospital stay. Results are quite satisfactory.     

ORL-HNS training in South Africa

An out line of the scheme of training specialists in Otorhinolaryngology-Head and Neck Surgery (ORL-HNS) in South Africa is given and the difference with Indian training discussed     

Regulation of immunoglobulin heavy-chain gene rearrangements

Summary: Regulated assembly of antigen receptor gene segments to produce functional genes is a hallmark of B‐ and T‐lymphocyte development. The immunoglobulin heavy‐chain (IgH) and T‐cell receptor β‐chain genes rearrange first in B and T lineages, respectively. Both loci require two recombination events to assemble functional genes; D‐to‐J recombination occurs first followed by V‐to‐DJ recombination. Despite similarities in overall rearrangement patterns, each locus has unique regulatory features. Here, we review the characteristics of IgH gene rearrangements such as developmental timing, deletion versus inversion, D_H gene segment utilization, ordered recombination of V_H gene segments, and feedback inhibition of rearrangement in pre‐B cells. We summarize chromatin structural features of the locus before and during recombination and, wherever possible, incorporate these into working hypotheses for understanding regulation of IgH gene recombination. The picture emerges that the IgH locus is activated in discrete, independently regulated domains. A domain encompassing D_H and J_H gene segments is activated first, within which recombination is initiated. V_H genes are activated subsequently and, in part, by interleukin‐7. These observations lead to a model for feedback inhibition of IgH rearrangements.     

Polymorphism of gp15/400 allergen gene of W. bancrofti from different regions of India endemic for lymphatic filariasis.

Nematode polyprotein allergens (NPA) are lipid binding/transport molecules that elicit elevated levels of IgE response in the infected host, leading to Th2 type of immune response. They also transport arachidonic acid and its metabolites that are known to be involved in the action of antifilarial drug, Diethylcarbamazine and hence are of great significance for the control of lymphatic filariasis. We investigated the polymorphism of gp15/400 polyprotein of 35 isolates of lymphatic filarial parasite Wuchereria bancrofti collected from different geographic locations of India. The repeat sub-unit of the gene was found to be highly conserved in all the isolates with only two nucleotide synonymous changes at positions 286 (A-G) and 337 (C-T). Since this molecule is highly conserved and has multifarious roles in the survival and pathogenesis of the parasite it has good potential as a target for drug, immunodulation tool and immunotherapy development.