Cardiovascular involvement in Kawaski Disease

This article contains a case report of a 19 month old child with Kawasaki Disease who developed bilateral giant coronary artery aneurysms.peer-reviewe

Clinical case of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is the only one of all the various causes of intersex that can actually cause a medical emergency. In fact, before CAH was well understood, it was thought to occur much more frequently in girls. Now we know that this really reflects the fact that newborn girls with genital ambiguity often came quickly to medical attention, whereas CAH boys (who don’t have an intersex appearance) often died without being diagnosed. Another problem that can happen is called “Salt wasting.” Some people with CAH (whether intersexed or not) don’t produce the right levels of hormones that control salt in the body. These people can get very sick, and even die, without medication to correct their body’s salt level. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/3615

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment

Relação entre os fatores de risco cardiovascular e a ecogenicidade e o padrão do complexo íntima-média carotídeo em homens

CONTEXT AND OBJECTIVE:The thickness of the carotid intima-media complex (C-IMC) is considered to be a marker of early atherosclerosis, but visual and echogenic changes to the C-IMC can also be noted. The objective here was to evaluate the relationship between cardiovascular risk factors and the echogenicity of the C-IMC and identify those most associated with an abnormal C-IMC.DESIGN AND SETTING:Cross-sectional study in the ultrasound sector of the Department of Diagnostic Imaging, Universidade Federal de São Paulo.METHODS:Eighty men were evaluated. Measurements of arterial blood pressure, waist circumference (WC), lipid profile, fasting glucose, uric acid and high-sensitivity C-reactive protein were obtained. The thickness of the C-IMC was measured by means of B-mode ultrasound, and the intima-media gray-scale mean (IM-GSM) and standard deviation (IM-SD) were calculated.RESULTS:The following were discriminating variables: fasting glucose (r2 = 0.036; P = 0.013), uric acid (r2 = 0.08; P = 0.03), IM-SD (r2 = 0.43; P < 0.001), IM-GSM (r2 = 0.35; P < 0.001) and thickness of the C-IMC (r2 = 0.29; P < 0.001). IM-GSM showed significant correlations with WC (r = -0.22; P = 0.005), fasting glucose (r = -0.24; P = 0.002) and high-density lipoprotein cholesterol (HDL-C) (r = 0.27; P = 0.0007).CONCLUSION:IM-GSM showed correlations with WC, fasting glucose and HDL-C. However, uric acid and IM-SD presented the greatest discriminating impact. These results suggest that visual changes in C-IMC may help identify patients with potential cardiovascular risk, independently of the thickness of the C-IMC.CONTEXTO E OBJETIVO:A espessura do complexo íntima-média carotídeo (CIM-C) é considerada um marcador da aterosclerose precoce, mas alterações visuais e da ecogenicidade do CIM-C também podem ser observadas. O objetivo foi avaliar a relação entre os fatores de risco cardiovascular e a ecogenicidade do CIM-C e identificar aqueles mais relacionados com o CIM-C alterado.TIPO DE ESTUDO E LOCAL:Estudo transversal no setor de ultrassonografia do Departamento de Diagnóstico por Imagem, Universidade Federal de São Paulo.MÉTODOS:Oitenta homens foram avaliados. Aferição da pressão arterial, medida da circunferência abdominal (CA), perfil lipídico, glicemia de jejum (GLI), ácido úrico (AU) e proteína C-reativa de alta sensibilidade foram obtidos. A espessura do CIM-C foi medida por ultrassom modo B e a média da escala de cinza (GSM) e do desvio padrão do CIM (DPIM) foram calculados.RESULTADOS:As variáveis discriminantes foram GLI (r2 = 0,036; P = 0,013), AU (r2 = 0,08; P = 0,03), DPIM (r2 = 0,43; P < 0,001), GSM (r2 = 0,35; P < 0,001) e espessura do CIM-C (r2 = 0.29; P < 0,001). Houve correlação significativa entre GSM e CA (r = -0,22; P = 0,005), GLI (r = -0,24; P = 0,002) e lipoproteína de alta densidade do colesterol (HDL-C) (r = 0,27; P = 0,0007).CONCLUSÃO:A GSM teve correlação com CA, GLI, HDL-C. Entretanto, AU e DPIM apresentaram maior impacto discriminante, sugerindo que alterações visuais do CIM-C, independentemente da espessura, podem auxiliar na identificação de pacientes com potencial risco cardiovascular.Universidade Federal de São Paulo (UNIFESP) Department of Diagnostic ImagingUniversidade Federal de São Paulo (UNIFESP) Department of NephrologyUniversidade Federal da Paraíba Department of StatisticsFaculdade de Medicina do ABC Department of SurgeryUNIFESP, Department of Diagnostic ImagingUNIFESP, Department of NephrologySciEL

Insulin-like growth factor binding protein-2, 28 kDa an 24 kDa insulin-like growth factor binding protein levels are decreased in fluid of dominant follicles, obtained from normal and polycystic ovaries

In order to investigate potential changes in insulin-like growth factor binding proteins (IGFBPs) during human follicle maturation, we examined the IGFBP profiles in follicular fluid from follicles in different stages of maturation. Samples were obtained from ovaries of women with regular menstrual cycles and of subjects with cycle abnormalities and polycystic ovaries (diagnosed as polycystic ovary syndrome (PCOS)) and analyzed by Western ligand blotting. IGFBPs of 43 kDa, 37 kDa, 31 kDa, a doublet around 28 kDa and a minor band of 24 kDa were detected in follicle fluid of normal non-dominant (size 4) follicles of both regularly menstruating women and PCOS patients. The 43 and 37 kDa IGFBPs could be identified as IGFBP-3 and the 31 kDa IGFBP as IGFBP-2, whereas the 28 kDa IGFBP could not be identified as IGFBP-1, all by immunoblotting techniques. A dramatic decrease in IGFBP-2, the 28 kDa and 24 kDa IGFBPs was observed in follicular fluid of dominant follicles (size > 10 mm) of both regular menstruating individuals and one PCOS patient as compared with follicular fluid of normal non-dominant or atretic follicles. These observations indicate that the PCOS follicle may not be different from normal with respect to IGFBP profiles. Furthermore, these results suggest that at least one of these IGFBPs might be involved in human folliculogenesis

The Use of Malaysian Natural Coral and Calcium Phosphate Cement as Bone Graft Substitute In Reconstructive Bone Surgery of Sheep

Bone defects, which often occur as a result of various diseases have been r ~ o r twsith~ au~togr aft or &ogr&. However, their we is always associated with limited supply and to overcome this, biomaterials are considered as an alternative. Synthetic biomaterid such as calcium phosphate cement (CPC) available in the mark& has been used in bone defect. Another possie sotvce is mttud ~~ such as rtstttud cmd. Therefore, the present study was designed to evaluate the natural coral and compare it to the c~~nrnercidlayv daMe CP€ post-implantation in sheep femoral bone. Twenty one adult male sheep, weighing between 15 - 20 kg were used in this study. The &mak were divided into two groups: 9 & A s in group 1 (CK) anb 12 minds in group 2 (cod).Coral blocks (Porites spp.) were prepared and processed according to the protocol established by the Tissue Bank of the Malaysian Institute for Nuclear Technology Research (MINT). Commercially available CPC implant (Rebone Gutai, Shanghai Rebone Biomaterials Co., Ltd, China) was used as comparison. A bone defect (2.5 cm x 0.5 cm x 0.5 cm) was created surgically on the proximal part of femur before it was replaced by the implants. Radiographs were obtained immediately after the surgery and at 2,4,8 and 12 weeks post-implantation. Ultrasonographic examinations were carried out at 1, 2, 4, 8 and 12 weeks post-implantation using ultrasound machine (TOSHIBA Capasee 11) connected with 7 MHz frequency transducer. Weekly blood samples were collected from all animals via jugular vein for calcium and phosphate analyses. The sheep were sacrificed at 2,4,8, and 12 weeks post-implantation and the implant sites were examined grossly. Samples of the implant site were taken for histological examination. Radiograph taken at 2 weeks post-implantation revealed mild lost of coral implant architecture and occasional development of radiolucent zone. At 4 weeks post-implantation, coral implant margins became indistinctive, prominent radiolucency zone and the intrinsic architecture was difficult to appreciate. The central part remained more radio opaque, indicating that resorption was proceeding centripetally. At 8 weeks and 12 weeks postimplantation, the coral implant was completely resorbed. In contrast, there was no change in CPC implant at weeks 2 4 and 8 post-implantation At 12 weeks post-implantation, a slight fuzzy appearance had developed at the margins of CPC implant indicating slower progress of resorption. However, the CPC implant remained visible on the radiograph throughout the study period. Ultrasonographic examination for up to 4 weeks post-implantation revealed that the coral implant was still visible at the implant site. However, by 8 wdwpost-inpfmta~the~~wasfullyr;escrrbedandsofttissues were observed at the implant site. Meanwhile, for the CFC implant, the ulPr%sonographic examination demomimted that the implant was still dearly visible for up to 12 weeks post-implantation. . - .-. - - - -- . -- The serum calcium levels found in both animals implanted with coral and CPC during the study period revealed no significant different, except for weeks land 10 in coral group where the level was significantly increased. While for the serum phosphate level there were significant increased at weeks 1 and 3 for CPC group and at week 11 for coral group. However, by w e e k l 4 , ~ ~ c a i c i m r t d ~ - f e v e E s w e r e ~ o o ~ a measured before implantation These indicated that the coral and CPC implant were biodegradable.Microscopically, the natural coral implanted into bone tissue showed rapid resorption and progressive replacement by new bone. At 12 weeks postimplantation, the implant site was almost completely closed and surrounded by new bone. Meanwhile, the CPC implant demonstrated a marginal bone formation at the end of the 12 weeks study. Scanning electron microscopy observation of the coral implant at 2 weeks postimplantation showed that the implant was irregularly eroded on the surface, but the morphology of the pores was conserved. At 4 weeks, coral implant deteriorated and the shape of the pores changed, indicating increased coral degradation. At 8 and 12 weeks, no more coral was detected and the implant site was filled with dense collagenous extracellular matrix. Meanwhile, the CPC implant was characterized by deformity and broken surface of the implant. Some areas revealed granular appearance due to attachment of the cells. In conclusion, results of the present study showed that natural coral implant was rapidly resorbed and was almost completely filled by new bone formation at the end of the study. In contrast, the CPC implant has a very slow resorption rate and remained clearly visible by week 12 postimplantation. Thus, the coral implant could be a possible and good candidate for bone graft

A fatal case of acute pulmonary embolism caused by right ventricular masses of acute lymphoblastic lymphoma-leukemia in a 13 year old girl

We report a case of a 13-year-old girl with acute lymphoblastic lymphoma-leukemia, who presented with a cardiac metastasis in the right ventricle, resulting in a pulmonary embolism. At the time of her leukemia diagnosis, a cardiac mass was incidentally found. The differential diagnosis for this unusual cardiac mass included cardiac tumor, metastasis, vegetation, and thrombus. Empirical treatment was initiated, including anticoagulation and antibiotics. She underwent plasmapheresis and was administered oral prednisolone for her leukemia. Five days later, she experienced sudden hemodynamic collapse and required extracorporeal membrane oxygenation insertion and emergency surgery. These interventions proved futile, and the patient died. Pathology revealed that the cardiac mass comprised an aggregation of small, round, necrotic cells consistent with leukemia. This is the first known case of acute lymphoblastic leukemia presenting as a right ventricular mass, with consequent fatal acute pulmonary embolism. A cardiac mass in a child with acute leukemia merits investigation to rule out every possible etiology, including vegetation, thrombus, and even a mass of leukemic cells, which could result in the fatal complication of pulmonary embolism