Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome

Context  Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. This syndrome is characterized by an almost complete loss of adipose tissue usually diagnosed at birth or early infancy resulting in apparent muscle hypertrophy. Common clinical features are acanthosis nigricans, hepatomegaly with or without splenomegaly and high stature. Acromegaloid features, cardiomyopathy and mental retardation can also be present.
Design  We investigated 11 kindreds from different geographical areas of Brazil (northeast and southeast). All coding regions as well as flanking intronic regions of both genes were examined. Polymerase chain reaction (PCR) amplifications were performed using primers described previously and PCR products were sequenced directly.
Results  Four AGPAT2 and two BSCL2 families harboured the same set of mutations. BSCL2 gene mutations were found in the homozygous form in four kindreds (c.412C>T c.464T>C, c.518–519insA, IVS5-2A>G), and in two kindreds compound mutations were found (c.1363C>T, c.424A>G). In the other four families, one mutation of the AGPAT2 gene was found (IVS3-1G>C and c.299G>A).
Conclusions  We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli–Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).     

Neuropathic pain in leprosy patients

The introduction of multidrug therapy by the World Health Organization has dramatically reduced the world prevalence of leprosy but the disease is still a public health problem in many countries, with a world prevalence of almost 600,000 cases in 2001. Damage to peripheral nerves is a key component of leprosy and the sensory and motor loss that follows is the basis for many of the classical features of this disease, such as skin wounds, cracks, plantar ulcers, clawed hands, drop foot, and incomplete closure of the eyelids. One of the most remarkable aspects of leprosy to lay persons and health care workers alike is that patients are reputed to feel no pain. However, neuropathic pain is arising as a major problem among leprosy patients. It can be nociceptive due to tissue inflammation, which mostly occurs during episodes of immune activation or neuropathic due to damage or dysfunction of the nervous system. This study, conducted among 358 leprosy patients, reveals a considerable prevalence of neuropathic pain and presents evidence that this common problem should be a high priority of those in charge of leprosy control programs.     

Thalassotherapy for fibromyalgia: a randomized controlled trial comparing aquatic exercises in sea water and water pool

The aim of this study was to evaluate the effectiveness of aerobic exercise in water pool compared with aerobic exercise performed in sea by women with fibromyalgia (FM). A total of 46 patients were randomly allocated into two groups: pool group (23 patients) and sea group (23 patients) that performed the same aerobic exercise program. Patients were evaluated baseline and after 12 weeks using: VAS, number of tender points, FIQ, SF-36, PSQI, and BDI. Both groups improved significantly in post-treatment for all the evaluated variables. There were no significant differences between two groups, except for BDI (F = 2.418, P < 0.0001). Aerobic exercise program performed in water (pool or sea) was effective for patients with FM. However, sea water exercises have been shown to bring more advantages related to emotional aspects. Then, exercise performed sea water (thalassotherapy) is an option for effective treatment with low cost for patients with FM.     

The outcomes of central hepatectomy versus extended hepatectomy: a systematic review and meta-analysis

Background

Central hepatectomy (CH) is a relatively uncommon liver resection technique. It is generally perceived as a more complex operation than extended hepatectomies (EH), with potentially higher associated morbidity. The outcomes of CH compared with EH is not well defined and there is a need to reassess.

Necrotizing sarcoid granulomatosis in a family of patients with sarcoidosis reinforces the association between both entities

Necrotizing sarcoid granulomatosis (NSG) is a rare entity mainly characterized by a prominent granulomatous vasculitis affecting middle-aged or old individuals and with a favorable prognosis. Although many believe it is a variant of sarcoidosis, the proper classification is still a matter of debate as some of its features are found in sarcoidosis but also in Churg-Strauss syndrome, Wegener's disease and hypersensitivity pneumonitis. In this paper, we described for the first time a case of NSG in a family with several cases of sarcoidosis, reinforcing the relationship between NSG and sarcoidosis. Additional interesting findings were the young age of the patient (15 years old), the symptoms limited to the respiratory tract (uncommon when NSG affects youngsters) and the increase in serologic markers of autoimmune disease. Though complete criteria for autoimmune disease were not present, systemic lupus erythematosus and Sjogren's syndrome are possible candidates. As sarcoidosis is described to be associated with several autoimmune diseases, this finding is an additional suggestion of the relationship between both entities.     

Cardiac thrombosis and thromboembolism in chronic chagas' heart disease

A retrospective study of Chagas' heart disease was carried out by a review of 1,345 autopsy reports, with special reference to cardiac thrombus and thromboembolic phenomena. The incidence of cardiac thrombus was higher in cases of heart failure (36%) than in cases of sudden death (15%), higher in heavier hearts, and unrelated to age or sex. The left- and right-sided cardiac chambers were equally affected by thrombus. Endocarditis and blood stasis were considered important factors in the pathogenesis of cardiac thrombus. Thromboembolic phenomena were more common in the systemic circulation but caused relatively more deaths by pulmonary embolism. Fourteen percent of patients with thromboembolic phenomena died from them. Patients with multiple thromboembolic phenomena had a higher risk of death from embolism. Cardiac thrombosis or thromboembolic phenomena, or both, were present in 44% of the cases studied. Prophylactic measures should be taken for these important complications of Chagas' heart disease.