RESUMEN
Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone. The clinical spectrum of SPENCD includes neurological involvement and immune dysfunction, such as systemic lupus erythematosus (SLE). To date, there are only 12 reported cases of SPENCD associated with SLE in the literature; however, detailed clinical follow-up data is absent for this comorbidity. This report presents clinical and laboratory data of three patients diagnosed with SPENCD-associated SLE. All three patients had short stature, arthralgia/arthritis, lupus nephritis, hypocomplementemia, and positive autoantibodies, including anti-nuclear and anti-dsDNA antibodies. Two patients exhibited class IV and one patient exhibited class V lupus nephritis. The early recognition of SPENCD is imperative, and this condition should be considered in patients with SLE, particularly in individuals with short stature and skeletal abnormalities. The cases presented here demonstrate that timely diagnosis and follow-up are key factors for the successful management of these conditions.
Asunto(s)
Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/genética , Lupus Eritematoso Sistémico/complicaciones , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/genética , Fosfatasa Ácida Tartratorresistente/genética , Adolescente , Anticuerpos Antinucleares/sangre , Niño , Preescolar , Femenino , Humanos , Nefritis Lúpica/complicaciones , Imagen por Resonancia Magnética , Masculino , MutaciónRESUMEN
Cyclooxygenase inhibitors (CI) which contained risks to fetal health were one of the most effective tocolytics. In order to indirectly investigate the effects of CI in human ductus arteriosus, immunohistochemical staining for cyclooxygenase-1 (COX1) and cyclooxygenase-2 (COX2) was evaluated in post-mortem fetuses with gestational ages between 24 and 34 weeks. Neither COX1 nor COX2 staining was related to gestational age. COX1 and COX2 staining in the vessel walls were not related to each other. COX1 staining in the endothelium, inner media and outer media were positively correlated with each other (COX1 endothelium vs IM staining Spearman's rho statistic [rs] = 0.721, p = 0.001; COX1 endothelium vs OM staining [rs] = 0.634, p = 0.004; COX1 IM vs OM staining [rs] = 0.931, p = 0.001). COX2 staining of endothelium was not correlated with either IM or OM staining. In conclusion, COX2 staining in the post-mortem specimens of human ductus arteriosus between 24 and 34 weeks is weak and limited to the endothelium.
Asunto(s)
Ciclooxigenasa 1/metabolismo , Ciclooxigenasa 2/metabolismo , Conducto Arterial/enzimología , Edad Gestacional , Endotelio Vascular/enzimología , Femenino , Humanos , Inmunohistoquímica , EmbarazoAsunto(s)
Alopurinol/efectos adversos , Hipersensibilidad a las Drogas/etiología , Adolescente , Corticoesteroides/uso terapéutico , Alopurinol/inmunología , Hipersensibilidad a las Drogas/tratamiento farmacológico , Hipersensibilidad a las Drogas/inmunología , Femenino , Antagonistas de los Receptores Histamínicos/uso terapéutico , HumanosRESUMEN
Arsenic, cadmium and lead were determined for quality control monitoring purposes of Bulgarian herbs and their infusions by inductively coupled plasma mass spectrometry and electrothermal atomic absorption spectrometry. Twelve samples of yarrow (Achillea millefolium), 18 of chamomile (Flores Chamomillae), 8 of bearberry leaves (Folia uvae ursi), 24 of peppermint (Mentha piperitae folium), 10 of hibiscus (Hibiscus sabdariffa), 14 of oregano (Origanum vulgare) and 12 of thyme (Thymus serpyllum) were analyzed. The studied toxic elements were present in the medicinal plants (12-225 microg/kg As, 15-268 microg/kg Cd, 0.2-8.6 mg/kg Pb). Arsenic was found in all herbal infusions at levels up to 0.4 microg/l. Cadmium was present in infusions of chamomile, hibiscus, peppermint and thyme at levels up to 0.7 microg/l. Lead was detected only in hibiscus infusions (2-3 microg/l). It was established that the major part of arsenic and lead in herbal infusions existed in biomacromolecular fraction. Cadmium appears to be present mainly in cationic form at pH 1 (stomach acidity), but at pH 7.6 (intestine acidity) there is a non-cationic fraction as well.
Asunto(s)
Arsénico/análisis , Cadmio/análisis , Plomo/análisis , Plantas Medicinales/química , Disponibilidad Biológica , Cromatografía por Intercambio Iónico , Interpretación Estadística de Datos , Flores/química , Indicadores y Reactivos , Espectrometría de Masas , Extractos Vegetales/análisis , Hojas de la Planta/químicaRESUMEN
We report on two cases with partial trisomy 1q syndrome. One case was a mid-trimester fetus with multiple malformations that was prenatally diagnosed with a de novo distal partial trisomy 1q. Prenatal ultrasound at 24th gestational week demonstrated the presence of cleft lip and palate, increased biparietal diameter and decreased abdominal circumference. Cytogenetic analysis (GTG banding) and subsequent fluorescence in situ hybridization (FISH) using whole chromosome paint 1 and multicolor banding (MCB) demonstrated an aberrant karyotype 46,XY,dup(1)(q31q43 approximately 44). The second case was a newborn male infant with multiple congenital malformations. He had a derivative chromosome 18 as a result of a maternal insertion involving chromosomes 1 and 18. Further analyses including MCB showed his karyotype as 46,XY,ins(18;1)(q22;q23q31.1 approximately 32). The present cases and a review of the literature suggest that partial trisomy of the long arm of chromosome 1 is a distinct clinical entity.
Asunto(s)
Cromosomas Humanos Par 1 , Trisomía/diagnóstico , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Cromosomas Humanos Par 18 , Supresión Clonal , Análisis Citogenético , Femenino , Humanos , Hipertelorismo/genética , Lactante , Masculino , Embarazo , Diagnóstico Prenatal , Trisomía/genéticaRESUMEN
Herein, we describe an unusual presentation of acute graft versus host disease (GVHD) mimicking contact dermatitis in an infant who underwent 5/6 HLA-matched bone marrow transplantation (BMT) from his mother for malignant infantile osteopetrosis. The initial rash on day +32 simulated diaper rash, which progressed to a belt-shaped rash and then developed hyperkeratotic nodules on the hands. The acute GVHD was atypical and the course was progressive and fatal, with liver and gut involvement. This presentation of atypical initial skin involvement of acute GVHD may be useful for practicing clinicians in the BMT field who need to be aware of the early unusual signs of acute GVHD so that they can initiate prompt treatment.
Asunto(s)
Trasplante de Médula Ósea/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Osteopetrosis/cirugía , Enfermedades de la Piel/inmunología , Enfermedad Aguda , Progresión de la Enfermedad , Epidermis/patología , Resultado Fatal , Enfermedad Injerto contra Huésped/patología , Humanos , Lactante , MasculinoRESUMEN
This work described methodology of Sn, Pb, Cd and Zn impurities determination in high-purity graphite at direct atomic absorption spectrometry (AAS) with flame furnace (FF) atomizer. It was evidence that quality of AAS measurements are depended from sample amount, its homogeneity, particle size, as well as calibration procedure and operation parameters of FF atomizer. Prior to analysis the method has been developed and optimized with respect to the furnace heating temperature and flame composition of FF atomizer. Conditions of absorption peak areas (Q(A)) formation to each element were studied on the basis of contribution into its value some of individual parameters of analytes, including mass-transporting process from increasing mass of graphite samples into gas phase. Because particle size and homogeneous distribution of analyte in powdered materials has an enormous influence on accuracy and precision of measurement results, graphite as well as appropriate series of powdered reference standards was previously ground and investigated. Graphite samples to be analyzed and standard reference materials with mass from 0.025 to 0.200g was previously briquetted as pellet and insert on corresponding hole in furnace. The characteristic mass (g(0)) of Sn, Pb, Cd and Zn were 0.35, 0.1, 0.008 and 0.025ng, respectively, and relative standard deviation (S(r)) not more than 20%.
RESUMEN
A 17-month-old girl with type I classical citrullinaemia (CTLN1) presenting with early cirrhosis and unusual ultrastructural features of the liver is reported. The patient is homozygous for a splicing mutation in intron 15 of the argininosuccinate synthase gene.
Asunto(s)
Citrulinemia/complicaciones , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/etiología , Argininosuccinato Sintasa/deficiencia , Argininosuccinato Sintasa/genética , Citrulinemia/genética , Citrulinemia/patología , Femenino , Homocigoto , Humanos , Lactante , Intrones/genética , Mutación , Empalme del ARN/genéticaRESUMEN
Group A streptococcus (GAS) causes invasive, non-invasive and non-suppurative diseases. Pneumonia is one of the invasive infections caused by GAS. Although GAS is a significant and serious cause of childhood pneumonia, it is often overlooked clinically. Similarly, the recent literature is surprisingly scant on reports of GAS pneumonia and concentrates mainly on varicella-associated invasive GAS diseases. In this case report, we present a previously healthy 7-year-old child with community-acquired pneumonia that progressed rapidly and resulted in sepsis, respiratory failure and death. In both blood and pleural fluid cultures, Streptococcus pyogenes were isolated. On autopsy, macroscopic examination revealed that the lung tissue appeared to have lost its normal architecture. Necrosis was present and the lung had a spongy appearance with some solid areas. The light microscopy revealed massive oedema, haemorrhages, intense inflammatory cell infiltration and necrosis. This case report highlights the need for consideration of invasive GAS infection in the event of severe, rapidly progressing pneumonia in children.
Asunto(s)
Infecciones Neumocócicas/microbiología , Antibacterianos/uso terapéutico , Niño , Claritromicina/uso terapéutico , Quimioterapia Combinada , Resultado Fatal , Femenino , Humanos , Pulmón/microbiología , Pulmón/patología , Necrosis , Pleuresia/diagnóstico , Infecciones Neumocócicas/diagnóstico por imagen , Infecciones Neumocócicas/tratamiento farmacológico , Radiografía , Vancomicina/uso terapéuticoRESUMEN
In this study, the effect of mine work wastes on elemental composition (N, P, Ca, K, Mg, Fe, Mn, Cu, Zn) of some alpine and subalpine plant species and in soils were investigated in the surroundings of the Etibank Wolfram Mine Work in Uludag mountain. Soils and plant parts belonging to Thymus praecox Opiz., Acinos alpinus (L.) Moench, Plantago holosteum Scop and Festuca punctoria Sm species collected from three directions around Wolfram Mine Work were used for our investigations. All samples were analysed by flame atomic absorption spectrophotometer (FAAS) for Ca, K, Mg, Mn, Fe, Zn, and Cu. The significant differences among sample sites were in terms of pH, % CaCO3, % C, % N and % P contents of soil. The changes of Ca, Mg, Fe, Mn, Fe, Zn, and Cu contents in soil were determined to be due to mining activity. Of the four species examined, an important change was determined in concentrations of Mg, Mn, Fe and Zn although P. holosteum and F. punctoria were different in above- and below-ground parts, showing that plant element content is specific to species.
Asunto(s)
Residuos Industriales , Metales/análisis , Minería , Plantas/química , Contaminantes del Suelo , Tungsteno , Monitoreo del Ambiente , Festuca/química , Hierro/análisis , Manganeso/análisis , Raíces de Plantas/química , Brotes de la Planta/química , Plantago/química , Thymus (Planta)/químicaRESUMEN
BACKGROUND: The aim of this study was to measure the circulating levels of androgens in the third trimester of pregnancy and six weeks after delivery and to discuss androgen contribution in the pathogenesis of preeclampsia. METHODS: Twenty-two preeclamptic and 20 normotensive women completed this prospective study. Blood samples were drawn in the third trimester (28-32 gestational weeks) and six weeks after delivery. Serum total testosterone (T), free testosterone (fT) dehydroepiandrosterone sulfate (DHEAS), androstenodione (A), sex hormone binding globulin (SHBG) and estradiol (E2) levels were measured. The statistical analyses of the data were performed by using Wilcoxon Rank test within the groups, Student unpaired t test and Chi-square test between the groups with the SPSS program. RESULTS: T and fT levels were found to be significantly higher (p<0.05) in preeclamptic women in the third trimester compared to the values of normotensive controls. However, there were significant decreases (p<0.05) in T and fT levels six weeks after delivery, reaching values not significantly different from normotensive subjects (p>0.05). Furthermore, SHBG, DHEAS, A and E2 levels were not significantly different (p>0.05) between the groups in the third trimester or six weeks after delivery. CONCLUSION: We conclude that higher blood androgen levels measured in preeclamptic patients may be implicated in the pathogenesis of preeclampsia.
Asunto(s)
Andrógenos/sangre , Preeclampsia/sangre , Adulto , Sulfato de Deshidroepiandrosterona/sangre , Estradiol/sangre , Femenino , Humanos , Embarazo , Tercer Trimestre del Embarazo , Estudios Prospectivos , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona/sangreRESUMEN
The purpose of this study was to investigate the occurrence rate of APC resistance (APC-R) with severe preeclampsia in Turkish women. Thirty-two consecutive women having severe preeclampsia were included in the study. Thirty-two healthy pregnant women served as the control group. APC-R assays were performed in the third trimester of pregnancy, and 3 and 9 months after delivery. APC-R was demonstrated in the third trimester, 3 months and 9 months after delivery in 27 (84.4%), 23 (71.9%) and 5 (15.6%) of 32 preeclamptic patients, respectively. APC-R rates were significantly higher in preeclamptic group than in normal pregnant women in the third trimester of pregnancy (p < 0.05). Decreased mean APC activity and also increased APC-R rate was still persisting in preeclamptic group for 3 months after delivery. Nine months after delivery, the mean APC activity and also APC-R rates approached to the normal pregnant women; however, there was a significant difference between both groups (p < 0.05). Our results indicate that acquired APC-R may be a contributory factor in the pathogenesis of preeclampsia.
Asunto(s)
Resistencia a la Proteína C Activada/complicaciones , Preeclampsia/etiología , Resistencia a la Proteína C Activada/sangre , Adulto , Antitrombina III/metabolismo , Pruebas de Coagulación Sanguínea , Femenino , Humanos , Preeclampsia/sangre , Embarazo , Proteína C/metabolismo , Proteína C/fisiología , Proteína S/metabolismo , Proteína S/fisiología , TurquíaRESUMEN
Apoptosis, a programmed form of cell death, is an important mechanism that maintains cellular homeostasis. The cellular content of tissues is regulated by a balance between cell proliferation and cell loss. Apoptosis is important not only in physiological conditions but in pathological processes as well. Apoptosis has been implicated in the pathogenesis of certain renal diseases. In human models, systemic lupus erythematosus (SLE) and IgA nephropathy have been the main interests. These studies have mainly shown that apoptosis is important in the control of mesangial cell population. We have attempted to define the role of apoptosis in a cohort of childhood lupus nephritis. We have analyzed apoptosis by the terminal deoxynucleotidyl transferase (Tdt)-mediated dUTP-biotin nick end-labeling (TUNEL) method in eight SLE pediatric patients, two of whom had hereditary deficiencies of complement components. Although the sample size was small because of the rarity of hereditary complement deficiencies, we have shown that apoptotic activity was the greatest among these pediatric patients. It has been previously suggested that in lupus, autoimmunity develops as a result of inadequate clearance of apoptotic blebs containing nuclear elements; complement deficiencies are the most important hereditary factors predisposing to the inadequate clearance of apoptotic particles. This is the first time this hypothesis has been evaluated in the tissue samples of hereditary complement deficiency-related proliferative lupus nephritis. On the other hand, apoptosis was not different from the other mesangial proliferative glomerulopathies in the lupus nephritis samples. Further studies are needed to confirm our preliminary findings. Apoptosis has been implicated in other renal diseases as well, such as autosomal polycystic kidney disease, and in experimental models. A short review of the relevant literature is presented highlighting the role of apoptosis in the pathogenesis and prognosis of certain renal diseases.
Asunto(s)
Apoptosis , Nefritis Lúpica/fisiopatología , Niño , Humanos , Etiquetado Corte-Fin in Situ , NecrosisRESUMEN
In this clinicopathological conference, an 11-year old boy who presented with recurrent pyogenic infections, hypertension, malar rash, various skin lesions and nephritic syndrome since five years of age is discussed. He was hospitalized for clinical investigation with skin and renal biopsies at 10 years of age. Using clinicopathological data obtained from his last admission, a clinical diagnosis was reached, and the disorders of the complement system causing patients to show these signs or symptoms are emphasized. At the end of the discussion, a clinicopathological correlation is given for making the diagnosis.
Asunto(s)
Complemento C1q/deficiencia , Lupus Eritematoso Sistémico/diagnóstico , Niño , Activación de Complemento , Resultado Fatal , Humanos , Hipertensión/inmunología , Nefritis Lúpica/diagnóstico , Masculino , Insuficiencia Renal/inmunologíaRESUMEN
The clinicopathological analysis of 250 pediatric cases that had been tissue-diagnosed with renal amyloidosis revealed three patients associated with Henoch-Schönlein syndrome (HSS). The renal biopsies revealed AA-type amyloidosis in all three cases. Case 2 displayed focal and segmental proliferative glomerulonephritis in the same renal biopsy. No evidence of well-known diseases and/or conditions for the development of AA-type amyloidosis except for familial Mediterranean fever (FMF) existed in these particular cases. On the other hand, the frequency of the association between FMF and HSS has been reported extensively in the literature; thus, common etiological factors can be considered. The mechanism involved in amyloid deposition in these cases may be related to HSS-associated chronic antigenemia and/or FMF through a mechanism that is, to date, unknown. Further studies are needed to clarify this causal relationship.
Asunto(s)
Amiloidosis/diagnóstico , Fiebre Mediterránea Familiar/diagnóstico , Vasculitis por IgA/diagnóstico , Enfermedades Renales/diagnóstico , Adolescente , Amiloidosis/etiología , Amiloidosis/metabolismo , Biopsia , Niño , Fiebre Mediterránea Familiar/etiología , Femenino , Glomerulonefritis/diagnóstico , Glomerulonefritis/etiología , Humanos , Vasculitis por IgA/etiología , Riñón/patología , Enfermedades Renales/etiología , Masculino , Proteína Amiloide A Sérica/metabolismo , SíndromeRESUMEN
This paper describes a method for the direct determination of lead in urine using the newly developed loop AAS. In this technique, the sample to be analyzed is dried outside the flame on an electrically heated iridium loop. The loop is introduced into the flame of an AA-spectrometer by a precise transport mechanism. The detection limits of slightly and medium volatile elements are one or two orders of magnitude lower than those of conventional flame-AAS. By using an additional ceramic stagnation tube arranged in the flame, the power of detection is increased once more by about a factor 10. The high chemical resistance of iridium permits the use of strong acids for decomposition of the urine directly on the loop. The relative standard deviation is about 0.04 for a lead concentration of 90 micrograms/l. The detection limits are 3 to 10 micrograms/l depending on the AA-spectrometer used. The accuracy of the method is controlled by the analysis of control urine and by analyzing the same samples by graphite furnace-AAS.
Asunto(s)
Plomo/orina , Espectrofotometría Atómica/métodos , Humanos , Iridio , Microquímica , Espectrofotometría Atómica/instrumentaciónRESUMEN
The platinum-loop method of flame-AAS/AES gives lower detection limits for volatile elements than conventional working modes of flame-AAS/AES. The background problems of the method are compared with those of the other AAS-techniques (flame- and furnace-AAS). In this initial study, the background spectra of two alkali-metal halides (NaCl, NaI) are investigated. It is found that for NaCl the intensity of the molecular background absorption is about 400 times greater in the furnace method than with the loop technique. In the short wavelength region of the spectrum (<220nm) Raleigh scattering is negligible in the loop method, compared with furnace-AAS.