RESUMEN

Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin inflammation. Diagnosis of the individual form of ichthyosis is complex and is guided by clinical expertise. CI usually has a major impact on quality of life (QOL) and thus requires lifelong treatment. To date, there are no curative therapies, although various symptomatic treatment options exist. The present protocol for the management of CI has been drawn up in accordance with the recommendations published in 2012 by the French National Authority for Health, based on a literature review, with the help and validation of members of the French network for rare skin diseases (FIMARAD). It provides a summary of evidence and expert-based recommendations and is intended to help clinicians with the management of these rare and often complex diseases.

Asunto(s)

RESUMEN

BACKGROUND: Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barrier function. Despite stereotypical clinical presentation in the neonatal period, the diagnosis is not well known by clinicians. Herein we report two new cases. PATIENTS AND METHODS: Case no. 1: a boy born prematurely (33weeks of gestation) to non-consanguineous French parents presented at birth with respiratory distress necessitating admission to intensive care. His skin was covered by a thick caseous vernix, especially on the scalp, eyebrows and 4 limbs. At the age of 4years, the boy's skin appeared normal. Case no. 2: a boy born prematurely to consanguineous Moroccan parents (34weeks of gestation) presented at birth with respiratory distress requiring admission to intensive care. At clinical examination, he had a whitish thick skin giving an impression of vernix caseosa, with involvement of the scalp, forehead, 4 limbs and abdomen. At the age of 2 years, his skin was normal. CONCLUSION: The clinical presentation of this syndrome is typical. It is important to make the diagnosis to enable genetic counseling and planning of adequate neonatal care in the event of future pregnancies.

Asunto(s)

RESUMEN

Cell cultures from reef-building scleractinian corals are being developed to study the response of these ecologically important organisms to environmental stress and diseases. Despite the importance of cell division to support propagation, cell proliferation in polyps and in vitro is under-investigated. In this study, suspended multicellular aggregates (tissue balls) were obtained after collagenase dissociation of Pocillopora damicornis coral, with varying yields between enzyme types and brands. Ultrastructure and cell type distribution were characterized in the tissue balls (TBs) compared to the polyp. Morphological evidence of cellular metabolic activity in their ciliated cortex and autophagy in their central mass suggests involvement of active tissue reorganization processes. DNA synthesis was evaluated in the forming multicellular aggregates and in the four cell layers of the polyp, using BrdU labeling of nuclei over a 24 h period. The distribution of BrdU-labeled coral cells was spatially heterogeneous and their proportion was very low in tissue balls (0.2 ± 0.1 %), indicating that suspended multicellular aggregate formation does not involve significant cell division. In polyps, DNA synthesis was significantly lower in the calicoderm (<1 %) compared to both oral and aboral gastroderm (about 10 %) and to the pseudostratified oral epithelium (15-25 % at tip of tentacle). DNA synthesis in the endosymbiotic dinoflagellates dropped in the forming tissue balls (2.7 ± 1.2 %) compared to the polyp (14 ± 3.4 %) where it was not different from the host gastroderm (10.3 ± 1.2 %). A transient (24 h) increase was observed in the cell-specific density of dinoflagellates in individually dissociated coral cell cultures. These results suggest disruption of coral cell proliferation processes upon establishment in primary culture.

RESUMEN

BACKGROUND AND AIM: The risk of death from coronary heart disease (CHD) in women with diabetes is more than three times that of non-diabetic women. We assessed the difference in CHD risk levels of Afro-Caribbean diabetic women provided with facilities for self-monitoring of blood glucose and their counterparts without such facilities MATERIALS AND METHODS: Forty-nine patients who never used gluco-meters were studied as intervention (23) and control (26) groups. The intervention group was trained on self-monitoring of blood glucose. At baseline, BP, anthropometric indices, and fasting blood glucose of all patients were measured. Subsequently, the intervention patients were provided with gluco-meters, testing strips, and advised to self-monitor fasting and postprandial blood glucose every other day for 6 months. CHD risk was determined with the United Kingdom Prospective Diabetes Study risk engine calculator. RESULTS: The age, duration of diagnosis of diabetes, BP, and anthropometric indices were similar in the two groups (all, P > 0.05). The majority of the patients were unemployed or retired with only primary education. After 3 months, the HbA 1c levels of the control patients did not change (8.3 ± 0.4% vs. 7.8 ± 0.4%, P > 0.05) whereas the HbA 1c levels of the intervention patients reduced significantly from the baseline at 3 (9.2 ± 0.4% vs. 7.4 ± 0.3%, P <0.001) and 6 (9.2 ± 0.4% vs. 7.3 ± 0.3%, P <0.001) months. The 10-year CHD risk level of the intervention group was remarkably reduced from the baseline level after 6 months (7.4 ± 1.3% vs. 4.5 ± 0.9%) of the study. CONCLUSION: Provision of facilities for self-monitoring of blood glucose in Afro-Caribbean women with type 2 diabetes improves both their glycemic control and CHD risk profile.

Asunto(s)

RESUMEN

BACKGROUND and AIM: The risk of death from coronary heart disease (CHD) in women with diabetes is more than three times that of non-diabetic women. We assessed the difference in CHD risk levels of Afro-Caribbean diabetic women provided with facilities for self-monitoring of blood glucose and their counterparts without such facilities. MATERIALS and METHODS: Forty-nine patients who never used gluco-meters were studied as intervention (23) and control (26) groups. The intervention group was trained on self-monitoring of blood glucose. At baseline, BP, anthropometric indices, and fasting blood glucose of all patients were measured. Subsequently, the intervention patients were provided with gluco-meters, testing strips, and advised to self-monitor fasting and postprandial blood glucose every other day for 6 months. CHD risk was determined with the United Kingdom Prospective Diabetes Study risk engine calculator. RESULTS: The age, duration of diagnosis of diabetes, BP, and anthropometric indices were similar in the two groups (all, P > 0.05). The majority of the patients were unemployed or retired with only primary education. After 3 months, the HbA 1c levels of the control patients did not change (8.3 ñ 0.4% vs. 7.8 ñ 0.4%, P > 0.05) whereas the HbA 1c levels of the intervention patients reduced significantly from the baseline at 3 (9.2 ñ 0.4% vs. 7.4 ñ 0.3%, P <0.001) and 6 (9.2 ñ 0.4% vs. 7.3 ñ 0.3%, P <0.001) months. The 10-year CHD risk level of the intervention group was remarkably reduced from the baseline level after 6 months (7.4 ñ 1.3% vs. 4.5 ñ 0.9%) of the study. CONCLUSION: Provision of facilities for self-monitoring of blood glucose in Afro-Caribbean women with type 2 diabetes improves both their glycemic control and CHD risk profile.

Asunto(s)

RESUMEN

OBJECTIVE: Primary prevention of Coronary Heart Disease (CHD) in diabetic patients should be based on absolute CHD risk calculation. This study was aimed to determine the levels of 10-year CHD risk in Caribbean type 2 diabetic patients using the diabetes specific United Kingdom Prospective Diabetes Study (UKPDS) risk engine calculator. SUBJECTS AND METHODS: Three hundred and twenty-five (106 males, 219 females) type 2 diabetic patients resident in two Caribbean Islands of Tobago and Trinidad met the UKPDS risk engine inclusion criteria. Records of their sex, age, ethnicity, smoking habit, diabetes duration, systolic blood pressure, total cholesterol, HDL-cholesterol and glycated haemoglobin were entered into the UKPDS risk engine calculator programme and the absolute 10-year CHD and stroke risk levels were computed. The 10-year CHD and stroke risks were statistically stratified into <15%, 15-30% and >30% CHD risk levels and differences between patients of African and Asian-Indian origin were compared. RESULTS: In comparison with patients in Tobago, type 2 diabetic patients in Trinidad, irrespective of gender, had higher proportion of 10-year CHD risk (10.4 vs. 23.6%, P<0.001) whereas the overall 10-year stroke risk prediction was higher in patients resident in Tobago (16.9 vs. 11.4%, P<0.001). Ethnicity-based analysis revealed that irrespective of gender, higher proportion of patients of Indian origin scored >30% of absolute 10-year CHD risk compared with patients of African descent (3.2 vs. 28.2%, P<0.001). CONCLUSIONS: The results of the study identified diabetic patients resident in Trinidad and patients of Indian origin as the most vulnerable groups for CHD. These groups of diabetic patients should have priority in primary or secondary prevention of coronary heart disease.

Asunto(s)

RESUMEN

OBJECTIVE: Primary prevention of Coronary Heart Disease (CHD) in diabetic patients should be based on absolute CHD risk calculation. This study was aimed to determine the levels of 10-year CHD risk in Caribbean type 2 diabetic patients using the diabetes specific United Kingdom Prospective Diabetes Study (UKPDS) risk engine calculator. SUBJECTS AND METHODS: Three hundred and twenty-five (106 males, 219 females) type 2 diabetic patients resident in two Caribbean Islands of Tobago and Trinidad met the UKPDS risk engine inclusion criteria. Records of their sex, age, ethnicity, smoking habit, diabetes duration, systolic blood pressure, total cholesterol, HDL-cholesterol and glycated haemoglobin were entered into the UKPDS risk engine calculator programme and the absolute 10-year CHD and stroke risk levels were computed. The 10-year CHD and stroke risks were statistically stratified into <15%, 15-30% and >30% CHD risk levels and differences between patients of African and Asian-Indian origin were compared. RESULTS: In comparison with patients in Tobago, type 2 diabetic patients in Trinidad, irrespective of gender, had higher proportion of 10-year CHD risk (10.4 vs. 23.6%, P<0.001) whereas the overall 10-year stroke risk prediction was higher in patients resident in Tobago (16.9 vs. 11.4%, P<0.001). Ethnicity-based analysis revealed that irrespective of gender, higher proportion of patients of Indian origin scored >30% of absolute 10-year CHD risk compared with patients of African descent (3.2 vs. 28.2%, P<0.001). CONCLUSIONS: The results of the study identified diabetic patients resident in Trinidad and patients of Indian origin as the most vulnerable groups for CHD. These groups of diabetic patients should have priority in primary or secondary prevention of coronary heart disease.

Asunto(s)

RESUMEN

In order for hepatitis B immunization programmes to be cost effective and clinically beneficial, vaccinated persons should maintain an immunity threshold titre of antibodies to hepatitis B surface antigen greater than 10 IU/l. Those who fall below this level should be boosted in order to be covered against the risk for which the vaccine was administered. Persons with sickle cell disease are included in the group for whom hepatitis B immunization is routinely prescribed. Antibody to hepatitis B surface antigen was measured in paired sera of thirty patients with sickle cell disease compared with a control group of healthy medical staff, five years post vaccination. There was no significant difference between patients with sickle cell disease and normal controls in the levels of antibody maintained or numbers that required booster vaccination. Recommendations for the maintenance of protection via revaccination should be the same for persons with sickle cell disease as for healthy persons.

Asunto(s)

RESUMEN

In order for hepatitis B immunization programmes to be cost effective and clinically beneficial, vaccinated persons should maintain an immunity threshold titre of antibodies to hepatitis B surface antigen greater than 10 IU/l. Those who fall below this level should be boosted in order to be covered against the risk for which the vaccine was administered. Persons with sickle cell disease are included in the group for whom hepatitis B immunization is routinely prescribed. Antibody to hepatitis B surface antigen was measured in paired sera of thirty patients with sickle cell disease compared with a control group of healthy medical staff, five years post vaccination. There was no significant difference between patients with sickle cell disease and normal controls in the levels of antibody maintained or numbers that required booster vaccination. Recommendations for the maintenance of protection via revaccination should be the same for persons with sickle cell disease as for healthy persons.

Asunto(s)

RESUMEN

Severe aplastic anaemia is uniformly fatal unless treated with immunosuppressive therapy or bone marrow transplantation. The latter is curative in 65% of patients and is the treatment of choice in children and young adults. Antilymphocyte globulin (ALG) and cyclosporin may be used successfully in the absence of an HLA matched sibling donor. We report the case of a twelve-year-old boy with severe aplastic anaemia who received immunosuppressive treatment with ALG and cyclosporin and is alive and well three years and six months post treatment.

Asunto(s)

RESUMEN

A pre-operative autologous blood donation programme was started in 1988 and made available to all doctors offering elective surgical procedures. Two hundred and seventy-seven (277) patients presented for autologous donation over a five-year period. Nine point four per cent were rejected because of low haemoglobin ( < 10.5 g/dl). The single biggest user of the programme was the Princess Elizabeth Hospital for handicapped persons. Patients undergoing orthopaedic procedures gave 50% of the donations, and ranged in age from 10 to 73 years. The oldest donor was a 73-year-old man who had an abdominal aortic aneurysm replaced. Gynaecological surgeons in the public and private sectors together provided 43.9% of donors, 3.6% of these underwent elective Caesarean Section, each donating one unit of blood at 36 weeks. Patients undergoing general surgical procedures comprised 10.4% of donors. Autologous donors contributed 1.3% of the total number of donations over this period.

Asunto(s)

RESUMEN

Human recombinant erythropoietin in full dose substantially raises the haemoglobin in patients with end stage renal disease on dialysis. In lower doses no or little rise in haemoglobin is achieved but the ferritin, often very high before treatment, is disproportionately lowered. The hormone therefore may be useful in reducing iron overload in other situations.

Asunto(s)

Asunto(s)

RESUMEN

In an attempt to distinguish between thrombocytosis in myeloproliferative disease (MPD) and reactive thrombocytosis (RT) the following aspects of platelet structure and function were evaluated: platelet size, platelet aggregation and adhesion, dense granule and alpha granule components. In addition plasma fibrinogen and von Willebrand factor antigen (vWFag) were measured. In all parameters measured there was a significant difference between normals and both categories of thrombocytosis, however there was considerable overlap between MPD and RT. Plasma fibrinogen emerged as the best single test to discriminate between MPD and RT, levels of less than 5.0 g/l indicating MPD and greater than 5.0 g/l indicating RT.

Asunto(s)

Asunto(s)

Asunto(s)

Asunto(s)