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1.
Diabetes Obes Metab ; 26(11): 4916-4923, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39248215

RESUMEN

AIM: To map the glycaemic variabilities and insulin requirements across different phases of the menstrual cycle and assess the efficacy and performance of the MiniMed 780G system on mitigating glycaemic variabilities during phases of the menstrual cycle. MATERIALS AND METHODS: A pilot study recruiting 15 adolescent and young adult females with type 1 diabetes was conducted. Only females with regular spontaneous menstruation were enrolled in the current study. Phases of each menstrual cycle were determined as either follicular phase or luteal phase. The study analysed continuous glucose monitoring metrics during two study periods: the open loop period (OLP) and the advanced hybrid closed-loop (AHCL) period; each period lasted 3 consecutive months. RESULTS: During the OLP, the mean time in range (TIR) significantly decreased during the luteal phase compared with the follicular phase (65.13% ± 3.07% vs. 70.73% ± 2.05%) (P < .01). The mean time above range significantly increased from 21.07% ± 2.58% during the follicular phase to 24.87% ± 2.97% during the luteal phase (P < .01). After initiating the AHCL period, TIR was comparable during both phases of the menstrual cycle (P = .72), without increasing the time spent below 70 mg/dL (P > .05). Regarding insulin delivery during the AHCL period, the percentage of Auto basal and Auto correction delivered by the algorithm increased by 13.55% and 30.6%, respectively (P < .01), during the luteal phase. CONCLUSIONS: The fully automated adaptive algorithm of the MiniMed 780G system mitigated menstrual cycle-dependent glycaemic variability, successfully attaining the recommended glycaemic outcomes with a TIR greater than 70% throughout the entire menstrual cycle.


Asunto(s)
Glucemia , Diabetes Mellitus Tipo 1 , Sistemas de Infusión de Insulina , Insulina , Ciclo Menstrual , Humanos , Femenino , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Adolescente , Proyectos Piloto , Glucemia/metabolismo , Glucemia/análisis , Ciclo Menstrual/fisiología , Adulto Joven , Insulina/administración & dosificación , Adulto , Automonitorización de la Glucosa Sanguínea/métodos , Control Glucémico/métodos , Hipoglucemiantes/uso terapéutico , Hipoglucemiantes/administración & dosificación , Fase Folicular/fisiología , Fase Luteínica/efectos de los fármacos
2.
Am J Med Genet A ; 179(2): 237-242, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30575274

RESUMEN

GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of seven new patients with GAPO syndrome. Our patients presented with the characteristic clinical features of the syndrome except for one patient who did not display total alopecia till the age of two years. Strikingly, optic atrophy and glaucoma were observed in all patients and one patient showed keratopathy in addition. Moreover, craniosynstosis was an unusual associated finding in one patient. Mutational analysis of ANTXR1 gene identified five novel homozygous mutations including two frameshift, two splice site and a large intragenic deletion of exon 3. Our results reinforce the clinical characteristics of the syndrome, expand the mutational spectrum and provide more insights into the role of the ANTXR1 protein in the regulation of extracellular matrix.


Asunto(s)
Alopecia/genética , Anodoncia/genética , Trastornos del Crecimiento/genética , Proteínas de Microfilamentos/genética , Atrofias Ópticas Hereditarias/genética , Atrofia Óptica/genética , Receptores de Superficie Celular/genética , Eliminación de Secuencia/genética , Alopecia/patología , Anodoncia/patología , Niño , Preescolar , Femenino , Trastornos del Crecimiento/patología , Homocigoto , Humanos , Lactante , Masculino , Atrofias Ópticas Hereditarias/patología , Atrofia Óptica/patología
3.
Int Braz J Urol ; 44(1): 163-171, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29211404

RESUMEN

PURPOSE: To evaluate the surgical outcome and predictors of failure of substitution urethroplasty using either dorsal onlay buccal mucosal (BM) graft or ventral onlay penile skin flap (PS) for anterior urethral stricture ≥ 8cm. PATIENTS AND METHODS: Between March 2010 and January 2016, 50 patients with anterior urethral stricture ≥ 8 cm were treated at our hospital. The surgical outcome and success rate were assessed. The predictors of failure were analyzed using multivariate analysis. Failure was considered when subsequent urethrotomy or urethroplasty were needed. RESULTS: Dorsal onlay BM graft was carried out in 24 patients, while PS urethroplasty in 26 patients. There was no significant difference between both groups regarding patients demographics, stricture characteristics or follow-up period. One case in the BM group was lost during follow- up. Stricture recurrence was detected in 7 (30.4%) patients out of BM group while in 6 (23.1%) patients out of PS group (p value= 0.5). No significant differences between both groups regarding overall early and late complications were observed. Occurrence of early complications and the stricture length were the only predictors of failure in univariate analysis, while in multivariate analysis the occurrence of early complications was only significant. CONCLUSION: On short-term follow-up, both dorsal onlay BM graft and ventral onlay PS flap urethroplasty have similar success rates. However, BM graft has a potential advantage to reduce operative time and is also technically easier. The surgeon should avoid early local complications as they represent a higher risk for failure.


Asunto(s)
Mucosa Bucal/trasplante , Pene , Trasplante de Piel/métodos , Colgajos Quirúrgicos/trasplante , Estrechez Uretral/cirugía , Procedimientos Quirúrgicos Urológicos Masculinos , Adulto , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Estrechez Uretral/patología
4.
Echocardiography ; 34(8): 1159-1169, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28752661

RESUMEN

AIMS: Left ventricular (LV) torsion is a novel method to assess systolic LV function. This study aimed at exploring the utility of 2D speckle tracking-based assessment of left ventricular torsion in patients with acute myocardial infarction (AMI) undertaking primary percutaneous intervention (pPCI) in predicting left ventricular remodeling. METHODS AND RESULTS: The study included 115 patients (mean±SD, age 52.2±9.67, males 84.3%) who underwent pPCI for AMI. Echocardiographic assessment of LV torsion by two-dimensional speckle tracking was performed early after the index pPCI. Patients underwent repeat echocardiography at 6 months to detect remodeling. LV torsion in the acute setting was significantly lower in those who demonstrated LV remodeling at follow-up compared to those without remodeling (7.56±1.95 vs 15.16±4.65; P<.005). Multivariate analysis identified peak CK & CK-MB elevation (ß=-0.767 and -0.725; P<.001), SWMA index (ß=-0.843; P<.001), and Simpson's derived LV ejection fraction (LVEF; ß=0.802; P<.001) as independent predictors of baseline LV torsion. It also identified peak LV torsion (ß: 0.27; 95% CI: 0.15-0.5, P=.001) and SWMA index (ß: 1.07, 95% CI: 1.03-1.12, P=.005) as independent predictors of LV remodeling. Baseline Killip's grades II and higher (ß: 48.6; 95% CI 5.5-428, P<.001) and diabetes mellitus (ß: 29.7; 95% CI 1.1-763, P<.05) were independent predictors of mortality. CONCLUSION: Left ventricular torsion in acute MI setting is impaired and predicts subsequent LV remodeling at 6-month follow-up.


Asunto(s)
Ecocardiografía/métodos , Ventrículos Cardíacos/diagnóstico por imagen , Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST/diagnóstico , Función Ventricular Izquierda/fisiología , Remodelación Ventricular , Adulto , Anciano , Femenino , Estudios de Seguimiento , Ventrículos Cardíacos/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Curva ROC , Infarto del Miocardio con Elevación del ST/fisiopatología , Infarto del Miocardio con Elevación del ST/cirugía , Factores de Tiempo
5.
Hemoglobin ; 36(6): 555-70, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23088733

RESUMEN

The aim of this study was to assess the level of hepcidin in hereditary chronic hemolytic anemias and to correlate the serum hepcidin levels to the need for blood transfusions (frequency of blood transfusions and the serum ferritin level). Seventy pediatric patients with hereditary chronic hemolytic anemias, attending to hematology clinics of Cairo University and Misr University for Science and Technology (MUST) hospitals were the subjects of this study [53 patients with ß-thalassemia major (ß-TM), 10 patients with ß-thalassemia intermedia (ß-TI), four patients with congenital spherocytosis and three patients with sickle cell disease) (38 males and 32 females)]; their ages ranged from 1-14 years. Seventy normal children, age- and sex-matched, served as the control group. The results of this study revealed decreased hepcidin levels in patients (all types of congenital chronic hemolytic anemias) [mean ± SD (standard deviation) = 22.9 ± 6.0] compared to controls (mean ± SD = 132.4 ± 16.7) with highly significant statistical difference in between. Hepcidin levels were higher in ß-TM patients (mean ± SD = 23.7 ± 6.2) than in ß-TI patients (mean ± SD = 21.8 ± 4.0), the hepcidin to ferritin ratio was significantly less than one. In ß-TM patients, the mean ± SD was 0.03 ± 0.004, and in ß-TI patients the mean ± SD = 0.025 ± 0.002, with highly significant statistical difference with hepcidin-to-ferritin ratios in controls being mean ± SD = 2.3 ± 0.7. Hepcidin and hepcidin/ferritin ratios can be used as good markers of hemolytic anemia and iron overload as they have very high sensitivity (99.0 and 99.0%, respectively) and very high specificity (98.0 and 97.0%, respectively). Our findings highlight the potential usefulness of hepcidin measurement as a diagnostic tool. The use of hepcidin as an adjuvant therapy with iron chelators is important as it has a vital role in combating hemosidrosis.


Asunto(s)
Anemia de Células Falciformes/sangre , Péptidos Catiónicos Antimicrobianos/sangre , Esferocitosis Hereditaria/sangre , Talasemia beta/sangre , Adolescente , Anemia de Células Falciformes/terapia , Transfusión Sanguínea , Proteína C-Reactiva , Niño , Preescolar , Femenino , Ferritinas/sangre , Hepcidinas , Humanos , Lactante , Hierro/sangre , Sobrecarga de Hierro/sangre , Sobrecarga de Hierro/diagnóstico , Sobrecarga de Hierro/etiología , Masculino , Esferocitosis Hereditaria/terapia , Talasemia beta/terapia
6.
Arab J Urol ; 19(2): 186-190, 2021 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-34104495

RESUMEN

Objective: To evaluate the outcome of microscopic subinguinal varicocelectomy on sperm DNA fragmentation (SDF) and pregnancy rate in men with normal semen parameters. Patients and methods: A pilot study that included male patients with a minimum of a 1-year history of male subfertility, normal semen parameters, a high percentage of SDF, and clinically palpable varicoceles. Microscopic subinguinal varicocelectomy was carried out for 45 patients (study group), while 40 patients had no intervention (control group). Semen analysis and SDF were measured before and at 6 months after the varicocelectomy. The pregnancy rate was assessed at the 6- and 12-month follow-ups. Results: Between July 2014 and January 2019, 85 subfertile men were included in the study and completed 12 months of follow-up. The two groups were comparable in terms of their age, body mass index, infertility duration, infertility type, varicoceles laterality, and varicoceles grade (P values = 0.84, 0.34. 0.35, 1, 0.39, and 0.46, respectively). At 6 months after varicocelectomy, the mean SDF was reduced in both groups, and this reduction was statistically higher in the varicocelectomy group (P < 0.001). After 1-year, spontaneous pregnancy was achieved in 62% of the patients in the varicocelectomy group compared to 30% in the control group (P = 0.009). Conclusion: Varicocelectomy has a positive impact on SDF and spontaneous pregnancy in infertile men with clinically palpable varicoceles and normal semen parameters. Abbreviations: BMI: body mass index; DFI: DNA fragmentation Index; SDF: sperm DNA fragmentation.

7.
Genes (Basel) ; 12(9)2021 09 08.
Artículo en Inglés | MEDLINE | ID: mdl-34573371

RESUMEN

Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands. Molecular pathogenesis of ED involves mutations of genes encoding key proteins of major developmental pathways, including ectodysplasin (EDA) and wingless-type (WNT) pathways. The most common ED phenotype is hypohidrotic/anhidrotic ectodermal dysplasia (HED) featuring hypotrichosis, hypohidrosis/anhidrosis, and hypodontia. Molecular diagnosis is fundamental for disease management and emerging treatments. We used targeted next generation sequencing to study EDA, EDAR, EDARADD, and WNT10A genes in 45 Egyptian ED patients with or without hypohidrosis. We present genotype and phenotype data of 28 molecularly-characterized patients demonstrating genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability. Thirteen mutations were reported, including four novel EDA mutations, two novel EDARADD, and one novel EDAR mutations. Identified mutations congregated in exons encoding key functional domains. EDA is the most common gene contributing to 85% of the identified Egyptian ED genetic spectrum, followed by EDARADD (10%) and EDAR (5%). Our cohort represents the first and largest cohort from North Africa where more than 60% of ED patients were identified emphasizing the need for exome sequencing to explore unidentified cases.


Asunto(s)
Displasia Ectodérmica/genética , Ectodisplasinas/genética , Receptor Edar/genética , Proteína de Dominio de Muerte Asociada a Edar/genética , Mutación , Adulto , Niño , Preescolar , Displasia Ectodérmica/etiología , Egipto , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Persona de Mediana Edad , Proteínas Wnt/genética
8.
Pediatr Crit Care Med ; 11(1): 52-9, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19924026

RESUMEN

OBJECTIVE: The aim of this study is to clarify the effect of sepsis on the physiologic inhibition system of coagulation including protein S, protein C, and antithrombin III, and to study their further effect on thromboembolic accidents of septic newborns. DESIGN: Clinical study including 30 septic neonates and 30 normal neonates served as control group. DATA SOURCES: MEDLINE, pediatric textbooks, Neonatal Intensive Care Unit, Department of Pediatrics, Faculty of Medicine, Cairo University. RESULTS: The results of this study showed marked decrease in the level of the physiologic inhibition system of coagulation including antithrombin III, protein C, and protein S in 100% of cases, compared to the control group (p < .001). Disseminated intravascular coagulation developed and death occurred in 33.3% of cases, necrotizing enterocolitis developed in 40% of cases, rectal bleeding developed in 33.3%, hematuria developed in 20% of cases, hematemesis developed in 26.7% of cases, intracranial hemorrhage developed in 23.3% of cases, and convulsions developed in 23.3% of cases. CONCLUSIONS: In this study we have tried to evaluate the effect of sepsis on the physiologic inhibition system of coagulation in neonates. We should expect the effect of sepsis and its severity and perform the necessary laboratory investigations for coagulation including antithrombin III, protein C and protein S levels to help prevent thromboembolic accidents in neonates with sepsis, including disseminated intravascular coagulation, necrotizing enterocolitis and intracranial hemorrhage. Based on the findings of our study and the results of the other studies, we are in agreement that protein C is a very useful biomarker in severe sepsis, and it is a possible tool for monitoring treatment with activated protein C. We also encourage further placebo-controlled clinical trials to investigate the role of activated protein C and antithrombin III in severe neonatal sepsis and especially in the states before disseminated intravascular coagulation and the disseminated intravascular coagulation states, on the condition that they are guided by the experience and recommendations gained from the PROWESS, ENHANCE, and RESOLVE clinical trials. Protein C might be more effective if dosed according to protein C levels rather according to weight. Furthermore, we encourage future research on activated protein C mutants, which are anticipated to appear very soon because they can reduce some side effects associated with the use of recombinant human activated protein C, such as intracranial hemorrhage and bleeding tendencies, because they have reduced anticoagulant activity while retaining the cytoprotective effects.


Asunto(s)
Antitrombina III/metabolismo , Proteína C/metabolismo , Proteína S/metabolismo , Sepsis/fisiopatología , Antitrombina III/análisis , Coagulación Sanguínea/fisiología , Enterocolitis Necrotizante/epidemiología , Enterocolitis Necrotizante/etiología , Enterocolitis Necrotizante/prevención & control , Humanos , Recién Nacido , Hemorragias Intracraneales/epidemiología , Hemorragias Intracraneales/etiología , Hemorragias Intracraneales/prevención & control , Proteína C/análisis , Proteína S/análisis , Sepsis/complicaciones , Índice de Severidad de la Enfermedad , Tromboembolia/prevención & control
9.
Spec Care Dentist ; 39(3): 330-339, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30989685

RESUMEN

AIM: to investigate for the first time whether the regenerative approach can be used to rehabilitate a case with regional odontodysplasia (ROD). ROD is a rare, localized developmental anomaly of the dental tissues. Moreover, we review the various treatment protocols for ROD and compare them to the suggested regenerative protocol. CASE REPORT: A 22-year-old female patient diagnosed with ROD in the upper left quadrant was presented to our clinic. Initially, the affected teeth were extracted and three implants were inserted. A combination of autologous bone marrow mononuclear cells (BMMNCs) seeded on a collagen sponge, nanohydroxyapatite, and autologous platelet-rich fibrin (PRF) was used to enhance bone regeneration in the defective area and around the inserted implants. After 9 months, bone regeneration and successful osteointegration around the inserted implants were achieved, permitting the insertion of a fourth implant. After an additional six months, a final fixed restoration was constructed. CONCLUSION: The suggested regenerative approach provides a better treatment option for ROD patients to regenerate the lost bone, rehabilitate aesthetics, and restore normal function.


Asunto(s)
Odontodisplasia , Fibrina Rica en Plaquetas , Adulto , Regeneración Ósea , Femenino , Humanos , Adulto Joven
10.
Acta Crystallogr B Struct Sci Cryst Eng Mater ; 75(Pt 5): 880-886, 2019 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-32830768

RESUMEN

In this work the crystal structure by single crystal X-ray measurement and optical properties of 1D propane-1,2-diammonium pentachlorobismuthate [NH3CH2CH(NH3)CH3]BiCl5 organic-inorganic hybrid perovskite are presented. It is prepared by mixing ethanolic solution of equimolar ratios (1:1) of its basic components. The title compound crystallized in the noncentrosymmetric orthorhombic space group Pca21 with Z = 8 molecules per unit cell. The unit-cell parameters are a = 19.8403 (7) Å, b = 6.3303 (2) Å, c = 19.0314 (7) Å. The vibrational spectra are studied by Raman and infrared spectroscopy. The optical properties show a strong absorption in the ultraviolet region, the band gap energy Eg is found to be 3.15 eV. Cathodoluminescence measurements are also discussed.

11.
Arch Med Sci Atheroscler Dis ; 4: e286-e297, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-32368684

RESUMEN

INTRODUCTION: The present study was designed to assess the validity and efficacy of urinary markers (NAG, RBP, transferrin, α1-microglobulin, and plasma homocysteine) as early predictors of microalbuminuria in diabetic nephropathy in children and adolescents with type-1 diabetes, and its relation with haemoglobin glycated (HbA1c), serum lipid profile, and blood pressure. MATERIAL AND METHODS: This study is a follow-up study to the 2002 study by Salem et al. The present study included 35 type 1 diabetes mellitus (T1DM) children and adolescents recruited from regular attendees of the specialised Diabetology Clinic, Children's hospital, Ain Shams University, with previously measured urinary N-acetyl-ß-glucosaminidase (13) or homocysteine (11) or transferrin (28) or α1-microglobulin (27) or retinol binding protein (13) as an early predictor of diabetic nephropathy in T1DM. Thirty-five patients with type 1 diabetes mellitus were enrolled, and 24 patients were normoalbuminuric at baseline. The patients were tested for markers other than urinary microalbumin, to predict diabetic nephropathy and early renal impairment in children and adolescents with type 1 diabetes mellitus. RESULTS: Regarding the metabolic control between the studied groups, we found that there is significant difference in HbA1c between the microalbuminuric patients and the normoalbuminuric patients. According to the number of positive markers of diabetic nephropathy, the only parameter that was higher in patients with more than one elevated marker was mean systolic blood pressure. Although mean diabetic blood pressure was higher, it was not statistically significant. Regarding to the predictability of urinary markers, urinary N-acetyl-ß-glucosaminidase is the most predictable marker with high sensitivity and specificity. The least sensitivity noticed was urinary RBP and the least specificity noticed was urinary α1-microglobulin. CONCLUSIONS: Regarding the predictability of urinary markers, urinary NAG is the most predictable marker with both high sensitivity and specificity, with a sensitivity of 60%, specificity 75%, positive predictive value 60%, negative predictive value 75%, and a diagnostic accuracy of 0.58%. Urinary RBP is another marker with low sensitivity but high specificity. Urinary α1-microglobulin is a valid marker with high sensitivity but low specificity. Contrary to previous markers, plasma homocysteine has high specificity but low sensitivity.

12.
Biomed Res Int ; 2015: 517815, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25984533

RESUMEN

Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the SOST gene were performed followed by in silico analysis of the resulting variation. A novel homozygous frameshift mutation in the SOST gene, characterized as one nucleotide cytosine insertion that led to premature stop codon and loss of functional sclerostin, was identified in the two affected brothers. Their parents were heterozygous for the same mutation. To our knowledge this is the first Egyptian study of sclerosteosis and SOST gene causing mutation.


Asunto(s)
Proteínas Morfogenéticas Óseas/genética , Marcadores Genéticos/genética , Hiperostosis/genética , Mutación/genética , Sindactilia/genética , Proteínas Adaptadoras Transductoras de Señales , Adolescente , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Proteínas Morfogenéticas Óseas/química , Niño , Análisis Mutacional de ADN , Egipto , Familia , Femenino , Humanos , Hiperostosis/diagnóstico por imagen , Masculino , Modelos Genéticos , Datos de Secuencia Molecular , Proteínas Mutantes/química , Proteínas Mutantes/metabolismo , Linaje , Radiografía , Sindactilia/diagnóstico por imagen
13.
Pediatr Crit Care Med ; 5(2): 163-6, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-14987347

RESUMEN

OBJECTIVE: The aim of this study was to clarify the effect of hypoxia on the physiologic inhibition system of coagulation including protein S, protein C, and antithrombin III and to study their effect on thromboembolic accidents of hypoxic newborns. DESIGN: Clinical study including ten hypoxic-ischemic neonates and ten normal neonates as a control group. DATA SOURCES: MEDLINE, pediatric textbooks, neonatal intensive care unit, Department of Paediatrics, Faculty of Medicine, Cairo University. RESULTS: The results of this study revealed a marked decrease in the level of the physiologic inhibition system of coagulation including antithrombin III, protein C, and protein S in 100% of the hypoxic-ischemic neonates compared with the control group (p <.001) before the occurrence of thromboembolic complications. Fifty percent of the hypoxic-ischemic neonates developed disseminated intravascular coagulation and died, 40% developed necrotizing enterocolitis and rectal bleeding, 20% developed hematuria, 30% developed hematemesis, 20% developed intracranial hemorrhage, and 100% had convulsions. CONCLUSIONS: In this study, we evaluated the effect of asphyxia on the physiologic inhibition system of coagulation in neonates. Care providers should suspect hypoxia resulting from any obstructed labor and perform the necessary laboratory investigations for coagulation, including antithrombin III, protein C, and protein S levels, to help prevent thromboembolic accidents in asphyxiated neonates, including disseminated intravascular coagulation, necrotizing enterocolitis, and intracranial hemorrhage. Based on the development of antithrombin III and protein C concentrates, which are commercially available, require minimal monitoring, and have very few side effects, the time is ripe for evaluation of optimal treatment for thromboembolic accidents after neonatal asphyxia. This could be even more important if successful neuroprotectant strategies are also developed.


Asunto(s)
Antitrombina III/antagonistas & inhibidores , Hipoxia-Isquemia Encefálica/sangre , Proteína C/antagonistas & inhibidores , Proteína S/antagonistas & inhibidores , Asfixia/complicaciones , Coagulación Intravascular Diseminada/etiología , Enterocolitis Necrotizante/etiología , Femenino , Hematemesis/etiología , Hematuria/etiología , Humanos , Hipoxia-Isquemia Encefálica/etiología , Recién Nacido , Hemorragias Intracraneales/etiología , Masculino , Convulsiones/etiología
14.
Chin Clin Oncol ; 3(1): 4, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25842082

RESUMEN

PURPOSE: To assess the efficacy and safety in average-risk pediatric medulloblastoma (MB) receiving tumor bed boost irradiation compared to a posterior fossa (PF) boost. PATIENTS AND METHODS: Thirty patients were enrolled in the study and divided evenly into two treatment arms of 15. Both arms received 23.4 Gy craniospinal irradiation (CS) and a 32.4 Gy boost. Patients in arm 1 were given PF boosts, and those in arm 2 were given boosts to the gross target volume (GTV). Weekly oncovin was given throughout all radiotherapy (RT). Eight cycles of adjuvant chemotherapy of CCNU, oncovin and platinol were given to all patients after RT. MRI, pure tone audiogram (PTA) and intelligence quotient (IQ) tests were performed before and after RT and every three months thereafter. RESULTS: There were significant differences in the sparing dose to the cochlea and brain stem as well as the volume of the normal brain receiving a 100% dose. There was a significant initial improvement of hearing function in patients given the target volume boost after RT, which was lost after chemotherapy. With a median follow up of 23 months, there was no difference in progression free survival or overall survival between the two arms. CONCLUSIONS: Irradiation of the tumor bed after 23.4 Gy craniospinal irradiation for average-risk MB results in similar disease control as a PF boost. Dosimetric sparing for the cochleae and normal tissue is evident in patients receiving tumor bed boosts. The hearing improvement and cognitive function preservation effects of the treatment need more follow up.

15.
Int. braz. j. urol ; 44(1): 163-171, Jan.-Feb. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-892955

RESUMEN

ABSTRACT Purpose To evaluate the surgical outcome and predictors of failure of substitution urethroplasty using either dorsal onlay buccal mucosal (BM) graft or ventral onlay penile skin flap (PS) for anterior urethral stricture ≥ 8cm. Patients and methods Between March 2010 and January 2016, 50 patients with anterior urethral stricture ≥ 8 cm were treated at our hospital. The surgical outcome and success rate were assessed. The predictors of failure were analyzed using multivariate analysis. Failure was considered when subsequent urethrotomy or urethroplasty were needed. Results Dorsal onlay BM graft was carried out in 24 patients, while PS urethroplasty in 26 patients. There was no significant difference between both groups regarding patients demographics, stricture characteristics or follow-up period. One case in the BM group was lost during follow-up. Stricture recurrence was detected in 7 (30.4%) patients out of BM group while in 6 (23.1%) patients out of PS group (p value= 0.5). No significant differences between both groups regarding overall early and late complications were observed. Occurrence of early complications and the stricture length were the only predictors of failure in univariate analysis, while in multivariate analysis the occurrence of early complications was only significant. Conclusion On short-term follow-up, both dorsal onlay BM graft and ventral onlay PS flap urethroplasty have similar success rates. However, BM graft has a potential advantage to reduce operative time and is also technically easier. The surgeon should avoid early local complications as they represent a higher risk for failure.


Asunto(s)
Humanos , Masculino , Adulto , Pene , Procedimientos Quirúrgicos Urológicos Masculinos , Colgajos Quirúrgicos/trasplante , Estrechez Uretral/cirugía , Trasplante de Piel/métodos , Mucosa Bucal/trasplante , Estrechez Uretral/patología , Estudios Retrospectivos , Estudios de Seguimiento , Resultado del Tratamiento , Persona de Mediana Edad
16.
J Med Case Rep ; 6: 162, 2012 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-22734844

RESUMEN

INTRODUCTION: Ovarian tumors are the least common cause of sexual precocity in girls. Mixed germ cell-sex cord-stromal tumors associated with a yolk sac tumor of the ovary are rare neoplasms, of which only a small number of well-documented cases have been described so far. Here, we report precocious puberty in a four-year-old Egyptian girl caused by a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary. CASE PRESENTATION: A four-year-old Egyptian girl was referred to our pediatric endocrinology unit for evaluation of bilateral breast budding, pubic hair and vaginal bleeding. On examination, we found that her breast enlargement and pubic hair were compatible with Tanner III. A thorough workup revealed a large mass in her right ovary. Magnetic resonance imaging ofher brain showed that her pituitary gland was normal. A hormonal assay revealed high levels of estradiol, 280 to 375pmol/L; progesterone, 5.3 nmol/L; testosterone 38.9 pg/mL; and androstenedione, 4.1 ng/mL. Her basal and stimulated levels of luteinizing hormone and follicle-stimulating hormone were low. Tumor markers levels were high, with a total inhibin of 1,069U/L and an alpha-fetoprotein of 987 µg/L. Her chromosomes were normal (46XX). Our patient underwent an explorative laparotomy and a solid tumor localized to her right ovary was identified. A right salpingo-oophorectomy was performed and the histopathological diagnosis was a mixed germ cell-sex cord-stromal tumorwith a yolk sac tumor of the ovary. Postoperatively, she was started on treatment with chemotherapy. Our patient is doing well without evidence of tumor recurrence or metastasis during eight months of postoperative follow-up. CONCLUSION: Although a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary is a rare occurrence, it should be considered in the differential diagnosis for a prepubescent girl with an abdominal mass and precocious puberty.

17.
Expert Opin Med Diagn ; 6(6): 489-98, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23480832

RESUMEN

OBJECTIVE: To evaluate serum anti-C1q antibodies as a biomarker of systemic lupus erythematosus (SLE) flare and as a proposed noninvasive alternative to renal biopsy which is still the "gold standard" to determine renal activity in SLE. METHODS: Serum anti-C1q antibodies were measured in our patients (all were females), they were followed at the nephrology and pediatric nephrology units at the Faculties of Medicine of Cairo University and Misr University for science and technology (MUST). Our study included 120 patients in the pediatric and adolescent age group and they were categorized into three groups with (mean ± SD of 16.7 ± 3, 16.1 ± 2, 15.9 ± 3) respectively: Group 1 including 40 patients with SLE and active lupus nephritis; Group 2 including 40 patients with SLE and without active lupus nephritis, but with some extra renal activity mainly arthritis; and Group 3 including 40 healthy subjects. RESULTS: Anti-C1q antibodies were found to be significantly higher in patients with active lupus nephritis than those without active nephritis than control individuals with a median (range) of [27.5 (14 - 83), 9 (2.5 - 30), 7 (2 - 13)] respectively. In those with active lupus nephritis, anti-C1q was found to correlate significantly with other parameters assessing lupus nephritis activity like C3 (r = -0.33, p < 0.04), C4 (r = -0.32, p < 0.044), daily urinary protein excretion (r = 0.32, p < 0.036), renal SLEDAI (r = 0.64, p < 0.001), and activity index (r = 0.71, p < 0.001). CONCLUSIONS: Anti-C1q antibodies can be used as a considerable marker for LN activity in that age group with 97.5% sensitivity and 65% specificity with the cutoff level 12 U/l. These levels are clearly higher than those for traditional markers of disease activity such as C3/C4 consumption and anti-dsDNA.

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