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BACKGROUND: The utility of casual serum triglyceride (TG) as a predictor of type 2 diabetes mellitus (DM) is unclear, especially during the most productive years. METHODS: Participants were 3271 workers (913 men and 2358 women, age 20-57) without DM at baseline. They underwent consecutive annual medical check-ups for 8 years. The association between newly diagnosed DM and casual serum TG level was determined by classifying the participants into 4 groups according to casual serum TG level at baseline: below 50 mg/dL (group A), 50-100 mg/dL (group B), 100-150 mg/dL (group C), and ≥150 mg/dL (group D). The effects of casual serum TG level in combination with sex, obesity, or serum glucose level on newly diagnosed DM were also evaluated. RESULTS: A total of 222 newly diagnosed type 2 DM cases with a mean age of 50 years old were observed during the follow-up period, i.e., 10/406 in group A, 66/1534 in group B, 58/712 in group C, and 88/619 in group D. Compared with group A, the odds ratio (ORs) for newly diagnosed DM (after adjusting for DM-associated factors) was found to increase with casual serum TG level: 1.38 (group B), 1.79 (group C), and 2.36 (group D). Moreover, the OR for newly diagnosed DM was higher in participants with high casual serum TG levels who were also male (OR 2.46), obese (OR 4.18), or had a high serum glucose level (OR 6.96) than in the reference group. CONCLUSIONS: Serum TG level ≥150 mg/dL when fasting or nonfasting is a significant predictor of type 2 diabetes in middle-aged Japanese workers.
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PURPOSE: Total extraperitoneal preperitoneal (TEP) repair is widely used for inguinal, femoral, or obturator hernia treatment. However, mesh repair is not often used for strangulated hernia treatment if intestinal resection is required because of the risk of postoperative mesh infection. Complete mesh repair is required for hernia treatment to prevent postoperative recurrence, particularly in patients with femoral or obturator hernia. CASES: We treated four patients with inguinocrural and obturator hernias (a 72-year-old male with a right indirect inguinal hernia; an 83-year-old female with a right obturator hernia; and 86- and 82-year-old females with femoral hernias) via a two-stage laparoscopic surgery. All patients were diagnosed with intestinal obstruction due to strangulated hernia. First, the incarcerated small intestine was released and then laparoscopically resected. Further, 8-24 days after the first surgery, bilateral TEP repairs were performed in all patients; the postoperative course was uneventful in all patients, and they were discharged 5-10 days after TEP repair. At present, no hernia recurrence has been reported in any patient. CONCLUSION: The two-stage laparoscopic treatment is safe for treatment of strangulated inguinal, femoral, and obturator hernias, and complete mesh repair via the TEP method can be performed in elderly patients to minimize the occurrence of mesh infection.
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Hernia Femoral/cirugía , Hernia Inguinal/cirugía , Hernia Obturadora/cirugía , Herniorrafia/métodos , Obstrucción Intestinal/cirugía , Laparoscopía/métodos , Anciano , Anciano de 80 o más Años , Femenino , Hernia Femoral/diagnóstico por imagen , Hernia Inguinal/diagnóstico por imagen , Hernia Obturadora/diagnóstico por imagen , Humanos , Obstrucción Intestinal/diagnóstico por imagen , Intestinos/irrigación sanguínea , Intestinos/diagnóstico por imagen , Intestinos/cirugía , Masculino , Mallas Quirúrgicas , Tomografía Computarizada por Rayos XRESUMEN
Intravitreally administered lampalizumab is an investigational complement inhibitor directed against complement factor D (CFD) for the treatment of geographic atrophy (GA) secondary to age-related macular degeneration. We sought to develop an integrated ocular and systemic pharmacokinetic/pharmacodynamic model for lampalizumab in patients with GA using the data from the clinical phase I and II studies. The kinetics of lampalizumab and CFD disposition were well described by the combined ocular/serum target-mediated drug disposition model using a quasi-steady-state approximation. This model takes into account the drug, target, and drug-target complex clearance, their transfer rates between ocular and serum compartments, and turnover kinetics of CFD. The constructed model provided a prediction of target occupancy in ocular tissues and supported that the two dosing regimens (10 mg q4w and 10 mg q6w) selected for the phase III studies are expected to be efficacious and able to achieve near-complete target engagement in the vitreous humor.
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BACKGROUND/OBJECTIVES: This cross-sectional study aimed to estimate total antioxidant capacity (TAC) intake from food and beverages in a Japanese population from 7-day seasonal dietary records. SUBJECTS/METHODS: The 7-day weighed dietary records of 390 subjects over four seasons between 1996 and 1998 were used. The TAC values (µmol trolox equivalents (µmol TE)/g) of various foods and beverages were defined, as reported in previous studies for weighed dietary records, using several different methods. TAC values of foods were estimated in 242 food and beverage items: 86.5% of vegetables, 99.1% of fruits, 71.5% of potatoes, 96.7% of beans, and 100% of chocolates. Differences in TAC intake per day and intake (g) per day among seasons in each of the food and beverage group were compared using a general linear model for repeated measures. The TAC intake/day were calculated for each food and beverage item in the four seasons. RESULTS: TAC intake/day (µmol TE/day) varied from 10 189 (summer) to 12 292 (winter). TAC intake/day from fruits (2696) and potatoes (395) was highest in autumn, from vegetables (2827) it was highest in summer and from beans (4151) and tea (2331) it was highest in winter. CONCLUSIONS: The dietary habits of the studied Japanese population showed the highest antioxidant capacity in winter and the lowest in summer.
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Antioxidantes/administración & dosificación , Dieta , Conducta Alimentaria , Estaciones del Año , Adulto , Anciano , Antioxidantes/farmacología , Pueblo Asiatico , Femenino , Análisis de los Alimentos , Humanos , Japón , Masculino , Persona de Mediana EdadRESUMEN
We report on an 11-year-old girl who developed steroid-resistant nephrotic syndrome (NS) at the onset of systemic lupus erythematosus (SLE), and clinical and renal histological findings suggested that her NS would be associated with SLE-related podocytopathy. Although initial treatment with intravenous pulse methylprednisolone was ineffective, following treatment with cyclosporine and an angiotensin receptor blocker was effective for her nephrotic proteinuria. She had developed posterior reversible encephalopathy syndrome (PRES), and mycophenolate mofetil (MMF) was started instead of cyclosporine. At present, 45 months after the onset, she is in remission of both NS and SLE. This case indicates that NS associated with SLE-related podocytopathy should be included in the spectrum of glomerulopathy accompanying SLE, also in the pediatric population.
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Glucocorticoides/uso terapéutico , Lupus Eritematoso Sistémico/complicaciones , Metilprednisolona/uso terapéutico , Síndrome Nefrótico/tratamiento farmacológico , Síndrome Nefrótico/etiología , Niño , Ciclosporina , Resistencia a Medicamentos , Femenino , HumanosRESUMEN
Sister chromatid cohesion mediated by the cohesin complex is essential for faithful chromosome segregation. Previously we reported that PHB2 (prohibitin2/ASURA), a multifunctional protein, has a role in sister chromatid cohesion. Nevertheless, how ASURA is involved in sister chromatid cohesion still remains unclear. The present co-immunoprecipitation analysis reveals that ASURA interacts with cohesin subunit Scc1 in vivo. We show that ASURA associates with chromatin in a similar manner as Scc1 throughout the cell cycle. Furthermore, our observation using the Fucci (fluorescent ubiquitination-based cell cycle indicator) system indicates that ASURA is important for cohesin maintenance at early mitosis. We have also identified that the conserved PHB domain is responsible for chromatin targeting of ASURA. Our results suggest that the regulation of sister chromatid cohesion is mediated by ASURA binding to chromatin, where ASURA might be involved in cohesin protection through ASURA-Scc1 interactions.
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Proteínas de Ciclo Celular/metabolismo , Cromatina/metabolismo , Proteínas Cromosómicas no Histona/metabolismo , Proteínas Nucleares/metabolismo , Fosfoproteínas/metabolismo , Mapeo de Interacción de Proteínas/métodos , Proteínas Represoras/metabolismo , Recuento de Células , Proteínas de Ciclo Celular/genética , Núcleo Celular/genética , Núcleo Celular/metabolismo , Centrómero/genética , Centrómero/metabolismo , Cromátides/genética , Cromátides/metabolismo , Cromatina/genética , Ensamble y Desensamble de Cromatina , Proteínas Cromosómicas no Histona/genética , Proteínas de Unión al ADN , Colorantes Fluorescentes/metabolismo , Puntos de Control de la Fase G2 del Ciclo Celular , Células HeLa , Humanos , Mitocondrias/genética , Mitocondrias/metabolismo , Mitosis , Proteínas Nucleares/genética , Fosfoproteínas/genética , Prohibitinas , Unión Proteica , Estructura Terciaria de Proteína , Interferencia de ARN , Proteínas Represoras/genética , CohesinasRESUMEN
We describe a case of FIGO Stage IB2 uterine cervical cancer which showed focal intense bone marrow FDG uptake mimicking bone metastases after the administration of G-CSF This case highlights the importance of avoiding the administration of G-CSF prior to PET imaging.
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Neoplasias de la Médula Ósea/diagnóstico por imagen , Neoplasias Óseas/diagnóstico por imagen , Carcinoma de Células Escamosas/diagnóstico por imagen , Factor Estimulante de Colonias de Granulocitos , Neoplasias del Cuello Uterino/diagnóstico por imagen , Neoplasias de la Médula Ósea/secundario , Neoplasias Óseas/secundario , Carcinoma de Células Escamosas/secundario , Contraindicaciones , Reacciones Falso Positivas , Femenino , Humanos , Persona de Mediana Edad , Imagen Multimodal , Tomografía de Emisión de Positrones , Tomografía Computarizada por Rayos X , Neoplasias del Cuello Uterino/patologíaRESUMEN
It has been postulated that physical immobilization is an essential factor in developing chronic pain after trauma or surgery in an extremity. However, the mechanisms of sustained immobilization-induced chronic pain remain poorly understood. The present study, therefore, aimed to develop a rat model for chronic post-cast pain (CPCP) and to clarify the mechanism(s) underlying CPCP. To investigate the effects of cast immobilization on pain behaviours in rats, one hindlimb was immobilized for 2 weeks with a cast and remobilization was conducted for 10 weeks. Cast immobilization induced muscle atrophy and inflammatory changes in the immobilized hindlimb that began 2 h after cast removal and continued for 1 week. Spontaneous pain-related behaviours (licking and reduction in weight bearing) in the immobilized hindlimb were observed for 2 weeks, and widespread mechanical hyperalgesia in bilateral calves, hindpaws and tail all continued for 5-10 weeks after cast removal. A sciatic nerve block with lidocaine 24 h after cast removal transitorily abolished bilateral mechanical hyperalgesia in CPCP rats, suggesting that sensory inputs originating in the immobilized hindlimb contribute to the mechanism of both ipsilateral and contralateral hyperalgesia. Intraperitoneal injection of the free radical scavengers 4-hydroxy-2,2,6,6-tetramethylpiperydine-1-oxy1 or N-acetylcysteine 24 h after cast removal clearly inhibited mechanical hyperalgesia in bilateral calves and hindpaws in CPCP rats. These results suggest that cast immobilization induces ischaemia/reperfusion injury in the hindlimb and consequent production of oxygen free radicals, which may be involved in the mechanism of widespread hyperalgesia in CPCP rats.
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Dolor Crónico/etiología , Hiperalgesia/etiología , Inmovilización/efectos adversos , Animales , Atrofia/etiología , Dolor Crónico/patología , Miembro Posterior/patología , Hiperalgesia/patología , Masculino , Músculo Esquelético/patología , Dimensión del Dolor , Estimulación Física , Ratas , Ratas Sprague-DawleyRESUMEN
An obturator hernia occurs through the pelvic obturator canal, a rigid ring made up of the underside of the superior pubic ramus and the obturator fascia. Obturator hernias have been associated with a high mortality due to the difficulty in diagnosis and the population in which it occurs. We examined four patients diagnosed with incarcerated obturator hernia, and showed that the strangulated intestine was not necrotic. We flexed the diseased leg calmly and repeatedly with slight rotation toward the outside and slight adduction toward the inside at supine position. The pain vanished suddenly during this maneuver. After this maneuver, the patients were able to undergo elective surgery after a certain interval. We discuss the possible use of this maneuver to release an incarcerated obturator hernia.
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Hernia Obturadora/terapia , Obstrucción Intestinal/etiología , Manipulaciones Musculoesqueléticas , Anciano , Femenino , Hernia Obturadora/complicaciones , Hernia Obturadora/cirugía , Humanos , Intestino Delgado , Relajación Muscular , Músculo EsqueléticoRESUMEN
Langerhans cell histiocytosis (LCH) that is refractory to conventional chemotherapy has a poor outcome. Hematopoietic stem cell transplantation (SCT) is a promising approach for refractory LCH because of its immunomodulatory effect. In this study, the outcomes of children with refractory LCH undergoing SCT in Japan were analyzed. Between November 1995 and March 2007, 15 children younger than 15 years (9 males, 6 females) with refractory LCH underwent SCT. The patients' median age at diagnosis was 8 months (range, 28 days to 28 months), and all had failed conventional chemotherapy. The median age at SCT was 23 months (range, 13-178 months). Nine had risk organ involvement at diagnosis, including liver (n=6), spleen (n=5), lung (n=5), and/or hematopoietic system (n=4). For SCT, a myeloablative regimen was used for 10 patients, and a reduced-intensity conditioning regimen (RIC) was used for five. The donor source varied among the patients, but allogeneic cord blood was primarily used (n=10). Subsequently, 11 of 15 patients have survived with no evidence of disease, with a 10-year overall survival (OS) rate (median+/-standard error) of 73.3+/-11.4%. The 10-year OS rate of nine patients with risk organ involvement at diagnosis was 55.6+/-16.6%, whereas six without risk organ involvement have all survived with no evidence of disease (P=0.07). These results indicate that SCT is promising as a salvage approach for children with refractory LCH.
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Trasplante de Células Madre Hematopoyéticas , Histiocitosis de Células de Langerhans/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Preescolar , Femenino , Histiocitosis de Células de Langerhans/diagnóstico , Humanos , Lactante , Recién Nacido , Japón , Masculino , Tasa de Supervivencia , Donantes de Tejidos , Resultado del TratamientoRESUMEN
AIM: The aim of the study was to investigate trends in the incidence of blindness and the association with laser photocoagulation in patients with type 1 diabetes in Japan. METHODS: Patients diagnosed between 1965 and 1979 aged under 18 years old were studied. The status of blindness and laser photocoagulation was identified as of 1 January 1995. To examine the time trend, we divided the cohort into two groups: 285 patients diagnosed between 1965 and 1969 (65-69 cohort) and 769 patients diagnosed between 1975 and 1979 (75-79 cohort). Survival analysis was performed using the Kaplan-Meier method. Cox proportional hazard models were used to assess the demographic characteristics. RESULTS: Blindness developed in 60 subjects in the 65-69 cohort and 15 subjects in the 75-79 cohort. The incidence of blindness in the 75-79 cohort was significantly lower than that in the 65-69 cohort (p<0.0001). In spite of no change in the use of laser photocoagulation in the 75-79 cohort compared with the 65-69 cohort, the hazard ratio for the blindness in those who received laser photocoagulation in the 75-79 cohort decreased significantly to 0.55 (p<0.01) compared with those in the 65-69 cohort when adjusted for the age of onset, sex, and time of diagnosis. CONCLUSION: The incidence of blindness decreased significantly for the subjects diagnosed more recently. The change in quality and the earlier introduction of laser photocoagulation might have contributed to the decreased incidence of blindness observed over time.
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Ceguera/etiología , Diabetes Mellitus Tipo 1/complicaciones , Retinopatía Diabética/cirugía , Coagulación con Láser/estadística & datos numéricos , Adolescente , Edad de Inicio , Ceguera/epidemiología , Ceguera/prevención & control , Niño , Preescolar , Diabetes Mellitus Tipo 1/epidemiología , Retinopatía Diabética/complicaciones , Retinopatía Diabética/epidemiología , Métodos Epidemiológicos , Femenino , Humanos , Japón/epidemiología , MasculinoAsunto(s)
Enfermedad Injerto contra Huésped/inmunología , Antígenos HLA/inmunología , Leucemia/terapia , Trasplante de Células Madre , Adolescente , Adulto , Niño , Preescolar , Femenino , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Madres , Núcleo Familiar , Pronóstico , Tasa de Supervivencia , Donantes de Tejidos , Resultado del Tratamiento , Adulto JovenRESUMEN
CCAAT/enhancer binding proteins (C/EBPs) have an important function in granulocytic differentiation, and are also involved in the leukemogenesis of acute myeloid leukemia (AML). Their involvement in myelomonocytic leukemia, however, is still unclear. Therefore, the expression and function of C/EBPs in myelomonocytic cells with MLL-fusion genes were investigated. Retinoic acid (RA) induced monocytic differentiation in the myelomonocytic cell lines with MLL-fusion genes, THP-1, MOLM-14 and HF-6 cells, accompanied by monocytic differentiation with the upregulation of C/EBPalpha and C/EBPepsilon. Monocytic differentiation by RA treatment was confirmed in primary AML cells using a clonogenic assay. When the activity of C/EBPalpha or C/EBPepsilon was introduced into HF-6 cells, their cellular growth was arrested through differentiation into monocytes with the concomitant marked downregulation of Myc. Cebpe mRNA was upregulated by the induction of C/EBPalpha-ER, but not vice versa, thus suggesting that C/EBPepsilon may have an important function in the differentiation process. Introduction of Myc isoforms into HF-6 cells partially antagonized the C/EBPs effects. These findings suggest that the ectopic expression of C/EBPepsilon, as well as C/EBPalpha, can induce the monocytic differentiation of myelomonocytic leukemic cells with MLL-fusion gene through the downregulation of Myc, thus providing insight into the development of novel therapeutic approaches.
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Proteína alfa Potenciadora de Unión a CCAAT/biosíntesis , Proteínas Potenciadoras de Unión a CCAAT/biosíntesis , Diferenciación Celular , Monocitos/metabolismo , Proteína de la Leucemia Mieloide-Linfoide/biosíntesis , Proteínas de Fusión Oncogénica/biosíntesis , Proteína alfa Potenciadora de Unión a CCAAT/genética , Proteínas Potenciadoras de Unión a CCAAT/genética , Línea Celular Tumoral , Regulación hacia Abajo , N-Metiltransferasa de Histona-Lisina , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/metabolismo , Proteína de la Leucemia Mieloide-Linfoide/genética , Proteínas de Fusión Oncogénica/genética , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Proteínas Proto-Oncogénicas c-myc/genética , Proteínas Proto-Oncogénicas c-myc/metabolismo , ARN Mensajero/biosíntesis , ARN Mensajero/genéticaRESUMEN
A 20-year-old female developed a relapse of B-precursor acute lymphoblastic leukemia (ALL) as a mass in her left breast after 6 years of maintained continuous complete remission. No leukemic lesions were identified in other sites such as the bone marrow or cerebrospinal fluid. The relapsed leukemic cells in the breast revealed the same immunophenotypes (CD10(+), CD19(+), CD20(+), HLA-DR(+), CD34(+)) as those of the onset ALL cells in the bone marrow. A literature survey found 10 other cases of ALL relapse in the breast without bone marrow involvement, mostly consisting of adolescent girls. Including the present report, a total of 11 cases were analyzed; the onset ages of ALL were a median of 16.5 (range 5-50) years old and the ages of relapse in the breast a median of 20 (range 12-51) years old. Data suggest that, although rare, the breast could become one of the extramedullary relapse sites of ALL developed in adolescent girls.
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Neoplasias de la Mama/secundario , Recurrencia Local de Neoplasia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patología , Adulto , Femenino , HumanosRESUMEN
Senile plaques in the brain of patients with Alzheimer's disease mainly consist of aggregates of amyloid beta peptides (Abeta42, Abeta40). Abeta42 is more neurotoxic than Abeta40. This review describes recent findings from a structural analysis of Abeta42 aggregates and discusses their relevance to neurotoxicity through the formation of radicals.
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Enfermedad de Alzheimer/metabolismo , Péptidos beta-Amiloides/metabolismo , Radicales Libres/metabolismo , Estrés Oxidativo , Fragmentos de Péptidos/metabolismo , Péptidos beta-Amiloides/química , Péptidos beta-Amiloides/toxicidad , Animales , Angiopatía Amiloide Cerebral/etiología , Angiopatía Amiloide Cerebral/metabolismo , Radicales Libres/toxicidad , Humanos , Síndromes de Neurotoxicidad/etiología , Síndromes de Neurotoxicidad/metabolismo , Fragmentos de Péptidos/química , Fragmentos de Péptidos/toxicidad , Estructura Terciaria de ProteínaRESUMEN
We evaluated the efficacy of a treatment strategy in which infants with acute lymphoblastic leukemia (ALL) were stratified by their MLL gene status and then assigned to different risk-based therapies. A total of 102 patients were registered on two consecutive multicenter trials, designated MLL96 and MLL98, between 1995 and 2001. Those with a rearranged MLL gene (MLL-R, n=80) were assigned to receive intensive chemotherapy followed by hematopoietic stem cell transplantation (HSCT), while those with germline MLL (MLL-G, n=22) were treated with chemotherapy alone. The 5-year event-free survival (EFS) rate for all 102 infants was 50.9% (95% confidence interval, 41.0-60.8%). The most prominent late effect was growth impairment, observed in 58.9% of all evaluable patients in the MLL-R group. This plan of risk-based therapy appears to have improved the overall prognosis for infants with ALL, compared with previously reported results. However, over half the events in patients with MLL rearrangement occurred before the instigation of HSCT, and that HSCT-related toxic events comprised 36.3% (8/22) of post-transplantation events, suggesting that further stratification within the MLL-R group and the development of more effective early-phase intensification chemotherapy will be needed before the full potential of this strategy is realized.
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Reordenamiento Génico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Antineoplásicos/efectos adversos , Citogenética , Supervivencia sin Enfermedad , Femenino , Humanos , Lactante , Recién Nacido , Japón , Masculino , Inducción de Remisión , Riesgo , Trasplante de Células Madre/efectos adversos , Resultado del TratamientoAsunto(s)
Trasplante de Células Madre Hematopoyéticas/efectos adversos , Leucemia Mielomonocítica Aguda/terapia , Linfohistiocitosis Hemofagocítica/diagnóstico , Macrófagos/fisiología , Preescolar , Etopósido/uso terapéutico , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Inmunosupresores/uso terapéutico , Macrófagos/patología , Masculino , Quimera por Trasplante , Acondicionamiento Pretrasplante , Trasplante HomólogoRESUMEN
Hypercalcemia is relatively rare but clinically important complication in childhood leukemic patients. To clarify the clinical characteristics, mechanisms of hypercalcemia, response to management for hypercalcemia, incidence of t(17;19) and final outcome of childhood acute lymphoblastic leukemia (ALL) accompanied by hypercalcemia, clinical data of 22 cases of childhood ALL accompanied by hypercalcemia (>12 mg/dl) reported in Japan from 1990 to 2005 were retrospectively analyzed. Eleven patients were 10 years and older. Twenty patients had low white blood cell count (<20 x 10(9)/l), 15 showed hemoglobin> or =8 g/dl and 14 showed platelet count > or =100 x 10(9)/l. Parathyroid hormone-related peptide (PTHrP)-mediated hypercalcemia was confirmed in 11 of the 16 patients in whom elevated-serum level or positive immunohistochemistry of PTHrP was observed. Hypercalcemia and accompanying renal insufficiency resolved quickly, particularly in patients treated with bisphosphonate. t(17;19) or add(19)(p13) was detected in five patients among 17 patients in whom karyotypic data were available, and the presence of E2A-HLF was confirmed in these five patients. All five patients with t(17;19)-ALL relapsed very early. Excluding the t(17;19)-ALL patients, the final outcome of ALL accompanied by hypercalcemia was similar to that of all childhood ALL patients, indicating that the development of hypercalcemia itself is not a poor prognostic factor.
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Cromosomas Humanos Par 17 , Cromosomas Humanos Par 19 , Proteínas de Unión al ADN/genética , Hipercalcemia/complicaciones , Hipercalcemia/genética , Proteínas de Fusión Oncogénica/genética , Proteína Relacionada con la Hormona Paratiroidea/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Factores de Transcripción/genética , Translocación Genética , Adolescente , Calcio/sangre , Niño , Preescolar , Femenino , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/sangre , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Reproducibilidad de los Resultados , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome. MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained. RESULTS: Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of 26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26 (12%) internal auditory canals were small. CONCLUSION: The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.
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Anomalías Múltiples/diagnóstico por imagen , Canales Semicirculares/anomalías , Tomógrafos Computarizados por Rayos X , Adolescente , Adulto , Niño , Preescolar , Atresia de las Coanas/diagnóstico por imagen , Coloboma/diagnóstico por imagen , Oído Interno/anomalías , Oído Interno/diagnóstico por imagen , Oído Medio/anomalías , Oído Medio/diagnóstico por imagen , Femenino , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Masculino , Radiografía , Estudios Retrospectivos , Canales Semicirculares/diagnóstico por imagen , Sensibilidad y Especificidad , Síndrome , Anomalías Urogenitales/diagnóstico por imagenRESUMEN
The interaction of viral and host factors is believed to determine not only the risk for initial human immunodeficiency virus type 1 (HIV-1) acquisition but also the course of the infection. Genetic polymorphisms in the chemokine receptors and their ligands were related to the susceptibility and resistance to HIV-1 infection. A polymorphism in the conserved 3' untranslated region of the stromal cell-derived factor-1 (SDF1) gene, which encodes a ligand of the CXCR4 receptor, has been related either to delayed progression to AIDS or to rapid disease progression and death. Global, regional, and ethnic distributions of frequencies of SDF1 genotypes and of the SDF1-3'A allele vary significantly. Although the HIV-1 epidemic is increasing in Brazil, little information about the frequencies of host genetic mutations related to HIV/AIDS resistance in the Brazilian population has been reported. To address this question, this study was carried out in order to determine the frequencies of the SDF1 polymorphism and the SDF1-3'A allele on 1061 genomic DNA samples purified from peripheral blood cells of 136 healthy individuals (group 1), 147 HIV-1-exposed seronegative individuals (group 2), 161 HIV-1-infected asymptomatic individuals and with CD4(+) T-cells count 350 mm(-3) (group 3), and 617 HIV-1-infected individuals with AIDS and/or CD4(+) T-cells count < 350 mm(-3) (group 4). The frequencies of the SDF1-3'A homozygous mutation were 3.7%, 6.1%, 4.3%, and 5.3% among groups 1, 2, 3, and 4, respectively (P = 0.5120). The overall frequency of the SDF1-3'A allele was 0. 1984 and did not differ among the four groups (P = 0.2744). The results underscore the global distribution of the SDF1 polymorphism and the hypothesis that the SDF1-3'A allele, itself, may not be sufficient to prevent the risk of HIV-1 infection and may be not related to the progression of the disease in the Brazilian population.