Análise das mutações C288Y, S65C e H63D e frequência alélica do gene HFE em pacientes com hiperferritinemia, em uma cidade do Nordeste, Brasil

Background & Aims: HFE-associated Hereditary Hemochromatosis (HH) is one of the most frequent autosomal recessive disease in the caucasian population, caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. The objective is to avaluate the distribution of C282Y, H63D and S65C mutations in the HFE gene in patients with suspected HH in the state of Rio Grande do Norte, Brazil. Methods: Samples of peripheral blood were taken from 335 patients originating from Natal-RN, a city in northeastern Brazil with suspected of HH and which were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction- Restriction Fragments Length Polymorphism). The main criterion for including such patients in the study was the increasing of persistent serum ferritin in individuals aged between 18 and 70 or older, both males and females. As to the exclusion criteria, individuals holding hemolytical anemia, talassemy and previously report of blood transfusion did not take part of the study. Results: Out of the 335 patients studied, 143 patients showed absence of mutation and 195 showed some kind of mutation in the HFE gene: 07/335 (2,08%) were homozigous C282Y, 25/335 heterozygous C282Y, 25/335 (7,46%) were homozigous H63D, 115/335 (34,32%) heterozygous H63D, 5/335 (1,48%) heterozygous S65D, 11/ 335 (3,28%) and were double heterozygous (H63D/C282Y). None patients were Homozygous S65D and S65D heterozygous (S65D/H63D and S65D/C282Y). Conclusions. The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries. Due to the high prevalence of hemochromatosis, its seriousness and easy treatment, the genetic diagnosis of HH has become a dream, especially in the high risk group.

Estudo das alterações hematológicas e urinárias em cães em diferentes estágios de disfunção renal e avaliação do biomarcador cistatina C

Chapter 2 - Cystatin C is a cationic protein is not glycosylated, produced a steady state for all nucleated and present in biological fluids cells being freely filtered by the glomeruli and almost completely catabolized in the proximal tubule, it is a promising early renal dysfunction marker. This study aimed to determine and compare the serum concentration of cystatin C biomarker in 86 dogs. The animals were divided into four groups according to serum creatinine levels: G1 - up. 1.4 mg / dL (23 animals), G2 - 1.5-2.0 mg / dL (16 animals), G3 - 2.1 to 5.0 mg / dL (24 animals) and G4 - above 5.1 mg / dL (23 animals). There was the measurement of the parameters used in the clinical routine of small animals such as urea, urinary gamma glutamyl transferase, proteinuria, alkaline phosphatase, sodium, potassium, chloride, calcium, phosphorus, calcium/phosphorus ratio and cystatin C. There was no statistical difference for urea, proteinuria, phosphorus, calcium/phosphorus, potassium and cystatin C, however, the other showed no statistical difference. Based on the results we can infer that cystatin C was not a good early indicator of kidney disease in dogs. Chapter 3 - This study aimed to determine the hematological and urinalysis elements such as density, proteinuria, cylinders and pH in 86 dogs The animals were divided into four stages according to serum creatinine levels: I - up to 1.4 mg/dL (23 animals), II - 1.5-2.0 mg/dL (16 animals), III from 2.1 to 5.0 mg/dL (24 animals) and IV - above 5.1 mg/dL (23 animals). In stage III, IV there was anemia normocytic normochromic type. Stage II had a leukocytosis frame by neutrophilia with a regenerative left shift and stage III and IV detour degenerative left. The density remained within the reference values all stages. Proteinuria showed statistical significance for the classification 2+ (1.0 g/L), between stage I and II, II and IV. Only the cylinder granular statistical difference in the classification 2+ between stage II and III, and 3+ between stage I and III. The prevailing pH was acid. The haematological values compared to serum creatinine stages showed the changes in hemoglobin and packed cell volume erythrocytes become more pronounced as serum creatinine values rise , this is also the behavior of neutrophils rods and proteinuria.

Caractérisation des désordres microcirculatoires par techniques d'imagerie chez des souris transgéniques bêta-thalassémiques et drépanocytaires

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Assessment of Two Diabetes Point-of-Care Analyzers Measuring Hemoglobin A1c in the Peruvian Amazon

Aims: Measurement of glycated hemoglobin (HbA1c) is an important indicator of glucose control over time. Point-of-care (POC) devices allow for rapid and convenient measurement of HbA1c, greatly facilitating diabetes care. We assessed two POC analyzers in the Peruvian Amazon where laboratory-based HbA1c testing is not available.

Methods: Venous blood samples were collected from 203 individuals from six different Amazonian communities with a wide range of HbA1c, 4.4-9.0% (25-75 mmol/mol). The results of the Afinion AS100 and the DCA Vantage POC analyzers were compared to a central laboratory using the Premier Hb9210 high-performance liquid chromatography (HPLC) method. Imprecision was assessed by performing 14 successive tests of a single blood sample.

Results: The correlation coefficient r for POC and HPLC results was 0.92 for the Afinion and 0.93 for the DCA Vantage. The Afinion generated higher HbA1c results than the HPLC (mean difference = +0.56% [+6 mmol/mol]; p < 0.001), as did the DCA Vantage (mean difference = +0.32% [4 mmol/mol]). The bias observed between POC and HPLC did not vary by HbA1c level for the DCA Vantage (p = 0.190), but it did for the Afinion (p < 0.001). Imprecision results were: CV = 1.75% for the Afinion, CV = 4.01% for the DCA Vantage. Sensitivity was 100% for both devices, specificity was 48.3% for the Afinion and 85.1% for the DCA Vantage, positive predictive value (PPV) was 14.4% for the Afinion and 34.9% for the DCA Vantage, and negative predictive value (NPV) for both devices was 100%. The area under the receiver operating characteristic (ROC) curve was 0.966 for the Afinion and 0.982 for the DCA Vantage. Agreement between HPLC and POC in classifying diabetes and prediabetes status was slight for the Afinion (Kappa = 0.12) and significantly different (McNemar’s statistic = 89; p < 0.001), and moderate for the DCA Vantage (Kappa = 0.45) and significantly different (McNemar’s statistic = 28; p < 0.001).

Conclusions: Despite significant variation of HbA1c results between the Afinion and DCA Vantage analyzers compared to HPLC, we conclude that both analyzers should be considered in health clinics in the Peruvian Amazon for therapeutic adjustments if healthcare workers are aware of the differences relative to testing in a clinical laboratory. However, imprecision and bias were not low enough to recommend either device for screening purposes, and the local prevalence of anemia and malaria may interfere with diagnostic determinations for a substantial portion of the population.

The Relationship Between Support Systems and Disease Burden for Families Coping with Sickle Cell Disease in South Africa and Cameroon

Background: Sickle cell disease (SCD) is a debilitating genetic blood disorder that seriously impacts the quality of life of affected individuals and their families. With 85% of cases occurring in sub-Saharan Africa, it is essential to identify the barriers and facilitators of optimal outcomes for people with SCD in this setting. This study focuses on understanding the relationship between support systems and disease outcomes for SCD patients and their families in Cameroon and South Africa.

Methods: This mixed-methods study utilizes surveys and semi-structured interviews to assess the experiences of 29 SCD patients and 28 caregivers of people with SCD across three cities in two African countries: Cape Town, South Africa; Yaoundé, Cameroon; and Limbe, Cameroon.

Results: Patients in Cameroon had less treatment options, a higher frequency of pain crises, and a higher incidence of malaria than patients in South Africa. Social support networks in Cameroon consisted of both family and friends and provided emotional, financial, and physical assistance during pain crises and hospital admissions. In South Africa, patients relied on a strong medical support system and social support primarily from close family members; they were also diagnosed later in life than those in Cameroon.

Conclusions: The strength of medical support systems influences the reliance of SCD patients and their caregivers on social support systems. In Cameroon the health care system does not adequately address all factors of SCD treatment and social networks of family and friends are used to complement the care received. In South Africa, strong medical and social support systems positively affect SCD disease burden for patients and their caregivers. SCD awareness campaigns are necessary to reduce the incidence of SCD and create stronger social support networks through increased community understanding and decreased stigma.

Caractérisation des désordres microcirculatoires par techniques d'imagerie chez des souris transgéniques bêta-thalassémiques et drépanocytaires

Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

Emergency emicolectomy for intestinal primary Aspergillosis in acute myeloid leukemia

ntestinal aspergillosis is an infection with a very high death rate especially in leukemic patients. Here we describe a case of a 46 years old woman with acute myeloid leukemia (LAM M5) who developed intestinal primary aspergillosis. This patient was diagnosed with LAM M5 through bone marrow aspiration and bone biopsy in March 2004. Symptoms of the disease were slight persistent fever, weight loss, asthenia, anemia, thrombocytopenia,and leukocytosis with high number of blasts in peripheral blood. After induction chemotherapy with ICE (Ifosfamide, Carboplatin, Etoposide), she developed neutropenia and high fever without apparent infective foci. She was treated with empiric antibiotic therapy, nevertheless she developed an intense diarrhea and ileo-cecal distention. Diagnostic exams didn’t show signs of a focal lesion. Despite the change in antibiotic treatment and the transfusions of granulocytes and blood cells, the patient developed extremely critical conditions with persistence of neutropenia and abdominal distention. A surgical treatment was decided at the time. We treated the patient with a two steps surgical procedure. The first step was a right abdominal ileostomy followed by improvement of general conditions and then the second step a right colectomy. The histological morphology confirmed necrotizing colitis with Aspergillus ife. At that time , treatment with voriconazole was started. The general conditions of the patient improved rapidly and we were able to treat the patient with other medical anti-leukemic therapies. The patient is now cured and in healthy state. We obtained a good clinical result as only in other few cases described in literature.

Laparoscopic treatment of mucinous adenocarcinoma of jejunum associated with celiac disease. Case report

Mucinous adenocarcinoma of the small bowel is very rare, and only few cases have been described in the literature. Association of this tumor with celiac disease has never been published. The authors report a unique case of jejunal mucinous adenocarcinoma in which a concomitant celiac disease has been histologically recognized. The difficult diagnosis, the role of laparoscopic surgery and the relationship between small bowel tumors and celiac disease are discussed. A 49-year-old man presented with recurrent melena, nausea, vomiting and anemia. A stenosis of the jejunum was documented by means of CT scan and video capsule enteroscopy. A laparoscopy was scheduled. A tumor, found in the first jejunal loop, was removed by laparoscopic surgery. Histopathology revealed a rare mucinous adenocarcinoma associated with epithelial changes secondary to celiac disease. Although small bowel tumors are rare entity, in patients with celiac disease complaining of symptoms related to altered intestinal transit or occult bleeding, an appropriate work-up should be planned for diagnosis. Mucinous type intestinal adenocarcinoma, even if never published before, could be observed. Laparoscopic surgery is often essential for the diagnosis and treatment.

A case of extraovarian primary peritoneal carcinoma in an oophorectomized-hysterectomized patient: a diagnostic dilemma

Extra Ovarian Primary Peritoneal Carcinoma (EOPPC) is a rare type of adenocarcinoma of the pelvic and abdominal peritoneum. The objective examination and the histological aspect of the neoplasia virtually overlaps with that of ovarian carcinoma. The reported case is that of a 72 year-old patient who had undergone a total hysterectomy with bilateral annessiectomy surgery 20 years earlier subsequently to a diagnosis for uterine leiomyomatosis. The patient came to our attention presenting recurring abdominal pain, constipation, weight loss, severe asthenia and fever. Her blood test results showed hypochromic microcytic anemia and a remarkable increase CA125 marker levels. Instrumental diagnostics with Ultrasound (US) and CT scans indicated the presence of a single peritoneal mass (10-12 cm diameter) close to the great epiploon. The patient was operated through a midline abdominal incision and the mass was removed with the great omentum. No primary tumor was found anywhere else in the abdomen and in the pelvis. The operation lasted approximately 50 minutes. The post-operative course was normal and the patient was discharged four days later. The histological exam of the neoplasia, supported by immunohistochemical analysis, showed a significant positivity for CA 125, vimentin and cytocheratin, presence of psammoma bodies, and cytoarchitectural pattern resembling that of a serous ovarian carcinoma even in absence of primitiveness, leading to a final diagnosis of EOPPC. The patient later underwent six cycles of chemotherapy with paclitaxel (135 mg/m2/24 hr) in association with cisplatin (75mg/m2). At the fourth year follow-up no sign of relapse was observed. .

Factores de riesgo relacionados con complicaciones durante el embarazo en adolescentes de 15 a 19 años, Hospital Vicente Corral Moscoso, Cuenca, junio 2006-septiembre 2007

Se procedió a identificar a las pacientes adolescentes que ingresaron en trabajo de parto, que cumplían los criterios de inclusión obteniéndose su consentimiento y el de sus familiares, se realizó la toma de las muestras de sangre y orina; se procedió posteriormente a la toma de datos y su registro en la encuesta. Posteriormente se clasificó cada paciente de acuerdo a caso o control según corresponda, para finalmente realizar el análisis estadístico. RESULTADOS: Los factores de riesgo se encuentran presentes tanto en las pacientes que corresponden a casos (96) como en controles (87), mostrando relación estadísticamente significativa con la aparición de complicaciones durante el embarazo, el parto y en el recién nacido (OR: 3.58, IC: 1.12-11.41). En el análisis por grupos de factores de riesgo, encontramos una diferencia estadísticamente significativa en el grupo de factores de riesgo sociales (OR: 2.25. IC: 1.13-4.46). La complicación más frecuente fue infección de vías urinarias durante el embarazo (37) y la anemia identificada durante el trabajo de parto (46). El 21de recién nacidos presentaron bajo peso al nacer. CONCLUSIONES: identificamos la presencia de un mayor porcentaje de complicaciones en el grupo de adolescentes con factores de riesgo que conformaron el grupo de casos

Estudio comparativo entre el alumbramiento dirigido y el alumbramiento expectante. Hospital Vicente Corral Moscoso. Cuenca 2006

Se procedió a identificar a las pacientes adolescentes que ingresaron en trabajo de parto, que cumplían los criterios de inclusión obteniéndose su consentimiento y el de sus familiares, se realizó la toma de las muestras de sangre y orina; se procedió posteriormente a la toma de datos y su registro en la encuesta. Posteriormente se clasificó cada paciente de acuerdo a caso o control según corresponda, para finalmente realizar el análisis estadístico. RESULTADOS: Los factores de riesgo se encuentran presentes tanto en las pacientes que corresponden a casos (96) como en controles (87), mostrando relación estadísticamente significativa con la aparición de complicaciones durante el embarazo, el parto y en el recién nacido (OR: 3.58, IC: 1.12-11.41). En el análisis por grupos de factores de riesgo, encontramos una diferencia estadísticamente significativa en el grupo de factores de riesgo sociales (OR: 2.25. IC: 1.13-4.46). La complicación más frecuente fue infección de vías urinarias durante el embarazo (37) y la anemia identificada durante el trabajo de parto (46). El 21de recién nacidos presentaron bajo peso al nacer. CONCLUSIONES: identificamos la presencia de un mayor porcentaje de complicaciones en el grupo de adolescentes con factores de riesgo que conformaron el grupo de casos

Tiempo de alumbramiento con drenaje y sin drenaje de sangre del cordón umbilical en pacientes anémicas y no anémicas en el Hospital Vicente Corral Moscoso, Cuenca-Ecuador 2007

Con un diseño experimental se realizó un estudio clínico, controlado, aleatorizado La muestra incluyó 200 pacientes, el grupo experimental comprendió 100 pacientes en las que se drenó la sangre de cordón umbilical 50 anémicas y 50 no anémicas, y el grupo de control con pinzamiento del cordón lo integraron 100 pacientes, 50 anémicas y 50 no anémicas. Resultados: al comparar la duración del tercer período del parto del grupo con drenaje se obtuvo una media de 4,6 ñ 1,4 min y en el grupo con pinzamiento 9,07 ñ 2,5 min. La diferencia fue significativa (P = 0,0001).Cuando se comparó la duración del tercer período del parto de 1 a 5 min vs 6 a 10 min, la mayoría de las pacientes del grupo con drenaje, estuvo entre 1 a 5 min, con un RR 0.239 (IC 95: 0.188 - 0.358), RRA 70.1, RRR 76.1, NNT 1.426, en las anémicas, y un RR 0.250 (IC 95: 0.179 - 0.383), RRA 66.1, RRR 75, NNT 1.513 en las no anémicas. El volumen de drenaje en el grupo de estudio, tuvo una media de 60.3 ñ 19.5 ml en las anémicas y 56.9 ñ 18 ml en las no anémicas (P = 0.369). La hemorragia del tercer período del parto del grupo con drenaje tuvo una media de 197.6 ñ 36 ml vs el grupo con pinzamiento 277.4 ñ 49 ml con un valor (P = 0,0001) lo cual es estadísticamente significativo a favor del drenaje. Cuando se comparó la hemorragia del tercer período del parto de menor que 250 ml vs 250 a 500 ml la mayoría de las pacientes del grupo con drenaje, estuvo en menor que 250 ml, con un RR 0.070 (IC 95: 0.025 - 0.168), RRA 80, RRR 93, NNT 1.25, en las anémicas, y un RR 0.074 (IC 95: 0.020 - 0.246), RRA 50, RRR 92.6, NNT 2 en las no anémicas. Conclusiones. La maniobra del drenaje de sangre del cordón umbilical reduce el tiempo y la hemorragia del tercer período del parto en pacientes con anemia leve y no anémicas sin producir efectos deletéreos

Prevalencia y factores de riesgo en amenaza de parto pretérmino en las pacientes atendidas en el Hospital Vicente Corral Moscoso en el año 2006

Se realizó un estudio observacional de tipo transversal. Se analizaron como factores de riesgo asociados: parto pretérmino previo, infección de vías urinarias, anemia, embarazo múltiple, trastornos hipertensivos, control prenatal y edad. La muestra fue propositiva, no aleatoria (728 mujeres) se calculó mediante Epi Info v 3.2.2 con los siguientes criterios: tamaño poblacional 4000 partos, prevalencia esperada 10, precisión 2, nivel de confianza 95La información fue obtenida directamente de las pacientes por medio de encuestas y exámenes clínicos y de laboratorio correspondientes. Los datos se procesaron en Epi Info. Resultados: la prevalencia de Amenaza de Parto pretérmino fue del 13. Los factores de riesgo asociados fueron: parto pretérmino previo (RP 3.05, IC 951.8-4.9), infección de vías urinarias (RP 3.99 IC 952.7-5.8); anemia (RP 1.70 IC 951.17-2.47). El control prenatal (RP 1.41 IC 950.96-2.08), embarazo múltiple (RP 2.34 IC 950.89-6.15), son factores asociados pero no estadísticamente significativa. En tanto que los trastornos hipertensivos (RP 0.45 IC 950.19-1.07) y la edad menor de 19 o mayores de 35 años (RP 0.92 IC 950.60-1.42) son factores protectores pero no estadísticamente significativa. Conclusiones: la prevalencia de APP en el HVCM es de 13. Los factores asociados son: el antecedente de parto pretérmino, la infección de vías urinarias y la anemia

Prevalencia de ferropenia y factores de riesgo asociados en niños de 6 a 24 meses de edad en el Hospital de Girón-Azuay 2007

Se realizó un estudio transversal en el que se incluyeron 160 niños de 6 a 24 meses de edad, seleccionados aleatoriamente, en el período comprendido de abril a septiembre del 2007. Se efectuaron determinaciones de ferritina sérica mediante el método de quimioluminiscencia y Hb mediante la técnica de la cianometahemoglobina. Además a través de una encuesta se recogió la información referente a los factores de riesgo estudiados. Resultados: los principales resultados obtenidos fueron: prevalencia de ferropenia 49%, prevalencia de anemia por déficit de hierro 52.6%. Los factores de riesgo asociados a ferropenia que mostraron significancia estadística en nuestro estudio son ingesta de leche de vaca >750 ml/día RP 1.54 (IC 1.10-2.15 p=0.04) y consumo inadecuado de vegetales verdes RP 1.42 (IC 1.01-2.01 p=0.03).Conclusiones: 1. La tasa de prevalencia de ferropenia encontrada en los lactantes estudiados fue de 49%. 2. La prevalencia de anemia con ferropenia fue de 52,6%, confirmándose que la principal causa de anemia en este grupo etáreo es la carencia de hierro como se afirma a nivel mundial. 3. La determinación de ferritina sérica es una prueba útil para detectar ferropenia en etapa temprana antes del desarrollo de anemia. 4. Los factores de riesgo que mostraron asociación estadísticamente significativa con ferropenia fueron: la ingestión de leche de vaca mayor a 750 ml /día y una dieta insuficiente en vegetales verdes