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1.
Endocr J ; 70(1): 59-67, 2023 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-36216557

RESUMEN

5α-reductase type 2 (5αRD2) deficiency is a 46,XY disorder of sex development caused by impaired conversion of testosterone (T) to dihydrotestosterone (DHT). Penile enlargement therapy is important for male patients with 46,XY 5αRD2 deficiency who have undermasculinized external genitalia, such as severe micropenis. High-dose T and percutaneous DHT replacement are reportedly efficacious for penile enlargement in patients with this disorder. We presented herein the longitudinal course of four patients with 46,XY 5αRD2 deficiency who received T and DHT. T replacement therapy during infancy increased the stretched penile length (SPL) in three of the patients but was ineffective in one patient. DHT was administered to the three patients after T replacement therapy and further increased the SPL. During and after puberty, two patients asked for and received T replacement therapy, which contributed to increasing their SPL. A semen test in one patient with T replacement therapy at age 27 years revealed cryptozoospermia despite normal testicular volume. The clinical course of our patients during infancy indicated that DHT therapy may be preferrable to T replacement therapy for penile enlargement in patients with 5αRD2 deficiency. During and after puberty, T replacement therapy promoted penile enlargement possibly because of increased conversion of T to DHT via increased 5α-reductase type 1 activity even in patients in whom it was ineffective during infancy. In conclusion, DHT is effective for penile enlargement during infancy in patients with 5αRD2 deficiency while T replacement therapy is a viable option during puberty.


Asunto(s)
Dihidrotestosterona , Testosterona , Humanos , Masculino , Lactante , Adulto , Testosterona/uso terapéutico , Dihidrotestosterona/uso terapéutico , Pubertad , Oxidorreductasas , Progresión de la Enfermedad
2.
Pediatr Int ; 64(1): e14749, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33884704

RESUMEN

BACKGROUND: The remission rate in children with Graves' disease (GD) after 2-6 years of antithyroid drug (ATD) treatment is 40-50%. It has been reported that it is difficult to predict the GD prognosis based on the thryroid stimulating hormone (TSH) receptor antibody (TRAb) level at the cessation of ATD treatment. We studied whether the persistence of negative TRAb at ATD treatment cessation increased the remission rate in pediatric patients with GD. METHODS: We included 22 patients diagnosed with GD who discontinued ATD treatment after confirmation of negative TRAb on two or more consecutive tests. Remission was defined as the maintenance of normal thyroid function, including serum TSH level, with negative TRAb more than 2 years after ATD discontinuation. RESULTS: Of the 22 patients, 12 achieved remission (remission rate 54.5%), with no significant between-group difference in the median duration of ATD treatment in the remission and relapse groups (4.4 vs 3.9 years). Of the 10 patients who relapsed, four (40.0%) relapsed within 2 years after ATD discontinuation, and 4 (40.0%) relapsed more than 5 years after ATD discontinuation. CONCLUSIONS: The persistence of negative TRAb at ATD treatment cessation might indicate prolonged duration of remission but does not increase the final remission rate in patients with childhood-onset GD.


Asunto(s)
Enfermedad de Graves , Anticuerpos , Antitiroideos/uso terapéutico , Niño , Enfermedad de Graves/tratamiento farmacológico , Humanos , Pronóstico , Recurrencia
3.
Endocr J ; 68(6): 683-689, 2021 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-33536381

RESUMEN

ACTH-cortisol dissociation is recognized in patients with critical illnesses. Cytokines, including tumor necrosis factor-α and interleukin-6 induce hypercortisolemia by enhancing the ACTH-independent synthesis and secretion of cortisol and by reducing cortisol breakdown. Subsequently, hypercortisolemia suppresses ACTH secretion by negative feedback inhibition. ACTH-cortisol dissociation in patients with systemic inflammatory diseases has not been reported. Here, we examined whether ACTH-cortisol dissociation is recognized in patients with Kawasaki disease (KD) associated with hypercytokinemia, as well as the possible cytokine involvement in ACTH-cortisol dissociation, retrospectively. The levels of serum cortisol, plasma ACTH, and cytokine-induced proteins, i.e., plasma C-reactive protein (CRP), serum ferritin, and urinary ß2-microglobulin (U-ß2MG), in 232 patients with KD were measured at diagnosis. Quartile groups based on cytokine-induced protein levels were formed (Q1, Q2, Q3, and Q4). We found a low median plasma ACTH [median (range): 8.9 (<2.0-332.0) pg/mL] but a high median serum cortisol level [median (range): 25.8 (1.4-99.8) µg/dL] in the entire study population. The median serum cortisol levels were significantly higher in the CRP-Q4, ferritin-Q4, and U-ß2MG-Q4 groups than in the CRP-Q1, ferritin-Q2, and U-ß2MG-Q1 groups, respectively (p < 0.01; p < 0.01; p < 0.001). The median plasma ACTH levels were significantly lower in the CRP-Q4 and ferritin-Q4 groups than in the CRP-Q1 and ferritin-Q1 groups, respectively (p < 0.001; p < 0.001). ACTH-cortisol dissociation was identified in patients with KD. Our findings suggest that inflammatory cytokines are involved in ACTH-independent hypercortisolemia in patients with KD. ACTH-cortisol dissociation in other systemic inflammatory diseases needs further investigation.


Asunto(s)
Hormona Adrenocorticotrópica/sangre , Citocinas/sangre , Ferritinas/sangre , Hidrocortisona/sangre , Síndrome Mucocutáneo Linfonodular/sangre , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
4.
Endocr J ; 64(12): 1173-1180, 2017 Dec 28.
Artículo en Inglés | MEDLINE | ID: mdl-28890480

RESUMEN

Thyroid disease is known to be associated with pulmonary arterial hypertension (PAH). We investigated the prevalence of thyroid disease in patients with idiopathic PAH (IPAH) or heritable PAH (HPAH), and the factors affecting the pathogenesis of thyroid disease. We retrospectively evaluated 59 patients with IPAH or HPAH who had been diagnosed with PAH before the age of 20 years. Thyrotoxicosis was detected in 12 of the 59 patients (6 patients with Graves' disease, 3 with hashitoxicosis, and 3 with silent thyroiditis) after the start of PAH treatment. The proportion of patients who received epoprostenol in the thyrotoxicosis group was significantly higher than that in the euthyroid group (12/12 vs. 27/47, p=0.015). In the 39 patients treated with epoprostenol, the proportion of patients who received combination therapy with epoprostenol and an endothelin receptor antagonist (ERA) in the thyrotoxicosis group was significantly lower than that in the euthyroid group (5/12 vs. 23/27, p=0.016). Logistic regression analysis revealed that thyrotoxicosis development was significantly associated with administration of epoprostenol (odds ratio [OR] 8.22, 95% confidence interval [CI] 1.26-53.74, p=0.028) and non-administration of ERA (OR 5.33, 95% CI 1.29-22.06, p=0.021). The prevalence of thyrotoxicosis was high in patients with IPAH or HPAH. The onset of thyrotoxicosis might be promoted by epoprostenol and inhibited by ERA.


Asunto(s)
Antihipertensivos/uso terapéutico , Antagonistas de los Receptores de Endotelina/uso terapéutico , Epoprostenol/uso terapéutico , Hipertensión Pulmonar/tratamiento farmacológico , Tirotoxicosis/epidemiología , Adulto , Comorbilidad , Humanos , Hipertensión Pulmonar/epidemiología , Prevalencia , Estudios Retrospectivos , Adulto Joven
6.
J Clin Endocrinol Metab ; 109(8): e1602-e1607, 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38128002

RESUMEN

CONTEXT: Adrenal crisis (AC) is a life-threatening complication that occurs during follow-up of patients with adrenal insufficiency (AI). No prospective study has thoroughly investigated AC in children with primary and secondary AI. OBJECTIVE: This work aimed to determine the incidence and risk factors for AC in patients with pediatric-onset AI. METHODS: This multicenter, prospective cohort study conducted in Japan enrolled patients diagnosed with AI at age ≤15 years. The incidence of AC was calculated as events per person-year (PY), and risk factors for AC were assessed using Poisson regression multivariable analysis. RESULTS: The study population comprised 349 patients (164 male, 185 female) with a total follow-up of 961 PY. The median age at enrollment was 14.3 years (interquartile range [IQR] 8.5-21.2 years), and the median follow-up was 2.8 years (IQR 2.2-3.3 years). Of these patients, 213 (61%) had primary AI and 136 (39%) had secondary AI. Forty-one AC events occurred in 31 patients during the study period. The calculated incidence of AC was 4.27 per 100 PY (95% CI, 3.15-5.75). Poisson regression analysis identified younger age at enrollment (relative risk [RR] 0.93; 95% CI, 0.89-0.97) and increased number of infections (RR 1.17; 95% CI, 1.07-1.27) as significant risk factors. Female sex (RR 0.99; 95% CI, 0.53-1.86), primary AI (RR 0.65; 95% CI, 0.30-1.41), or equivalent dosage of hydrocortisone per square meter of body area (RR 1.02; 95% CI, 0.96-1.08) was not a significant risk factor. CONCLUSION: A substantial proportion of patients with pediatric-onset AI experience AC. Younger age and an increased number of infections are independent risk factors for developing AC in these patients.


Asunto(s)
Insuficiencia Suprarrenal , Humanos , Masculino , Femenino , Insuficiencia Suprarrenal/epidemiología , Insuficiencia Suprarrenal/etiología , Incidencia , Niño , Factores de Riesgo , Adolescente , Estudios Prospectivos , Japón/epidemiología , Adulto Joven , Preescolar , Estudios de Seguimiento , Edad de Inicio , Hidrocortisona
7.
Clin Pediatr Endocrinol ; 31(3): 159-162, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35928379

RESUMEN

A 3-mo-old male infant was referred to our hospital with micropenis. Since his serum LH, FSH, and testosterone levels were low (< 0.3 mIU/mL, 0.08 mIU/mL, and < 0.03 ng/mL, respectively), Kallmann syndrome/normosmic hypogonadotropic hypogonadism was suspected. In the process of searching for complications of Kallmann syndrome/normosmic hypogonadotropic hypogonadism, a right adrenal gland tumor was incidentally discovered. The patient was diagnosed with stage 1 neuroblastoma. A homozygous p.P147L (c.C440T) mutation in the KISS1R gene was detected as a cause of the congenital hypogonadotropic hypogonadism. KISS1-KISS1R signaling, which is essential for GnRH secretion, exhibits anti-metastatic and/or anti-tumoral roles in numerous cancers. High KISS1 expression levels reportedly predict better survival outcomes than low KISS1 expression levels in neuroblastoma. Therefore, decreased KISS1-KISS1R signaling may have played a role in the neuroblastoma in this patient.

8.
Clin Case Rep ; 10(7): e6070, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35865781

RESUMEN

We report the case of a Filipino girl with autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. This haplotype may be retained among individuals of Filipino descent.

9.
J Pediatr Endocrinol Metab ; 24(11-12): 1047-50, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22308863

RESUMEN

A 3-year-old girl with Graves' disease developed a generalized convulsion as a result of hypoglycemia (25 mg/dL). At the time of the hypoglycemic seizure, her plasma adrenocorticotropin (ACTH) level (1460 pg/mL) was extremely high, but her serum cortisol level (28.4 microg/dL) was relatively low given the severe stress. The cortisol-releasing hormone (CRH) provocation test done after thyroid function had improved revealed normal ACTH and cortisol responses. Since there was no other cause of hypoglycemia, such as hyperinsulinemia, long-term starvation, suddenly advanced emaciation, or prolonged fasting, it was suspected that the transient adrenal hyporesponsiveness was the main cause of hypoglycemia.


Asunto(s)
Insuficiencia Suprarrenal/complicaciones , Enfermedad de Graves/complicaciones , Hipertiroidismo/complicaciones , Hipoglucemia/etiología , Insuficiencia Suprarrenal/sangre , Hormona Adrenocorticotrópica/sangre , Preescolar , Femenino , Gráficos de Crecimiento , Humanos , Hidrocortisona/sangre , Convulsiones/etiología
10.
J Pediatr Endocrinol Metab ; 34(9): 1191-1195, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34162032

RESUMEN

OBJECTIVES: 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. CASE PRESENTATION: A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. CONCLUSIONS: This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.


Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Andrógenos/sangre , Trastorno del Desarrollo Sexual 46,XY/patología , Proteínas de la Membrana/genética , Mutación , Polimorfismo de Nucleótido Simple , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , Trastorno del Desarrollo Sexual 46,XY/sangre , Trastorno del Desarrollo Sexual 46,XY/genética , Familia , Humanos , Lactante , Masculino , Proteínas de la Membrana/deficiencia , Pronóstico
11.
Circ J ; 74(2): 371-4, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20009390

RESUMEN

BACKGROUND: Previous studies have reported a high prevalence of autoimmune thyroid disease (AITD) in adult patients with pulmonary arterial hypertension (PAH). The aim of this retrospective study was to determine the prevalence of AITD in children and adolescents with idiopathic PAH (IPAH). METHODS AND RESULTS: The study group included 16 patients who had been diagnosed as having idiopathic PAH when they were younger than 15 years old; all were younger than 20 years of age. Thyroid function and antithyroid antibody levels were examined regularly at 6-12-month intervals and when there were clinical signs of thyroid dysfunction. In total, 7 patients (44%) had AITD; 2 patients developed Graves' disease, 2 developed silent thyroiditis, and 3 had antithyroid antibodies with euthyroidism. The duration after PAH onset and the prostacyclin (PGI(2)) treatment period were significantly longer in patients with AITD (7.6+/-2.1 and 7.4+/-2.3 years, respectively) than in patients without AITD (5.0+/-1.1 and 4.8+/-1.2 years, respectively; P<0.01 and P<0.05). CONCLUSIONS: The prevalence of AITD is high in children and adolescents with IPAH, so evaluation of thyroid function is important to prevent deterioration of right heart failure.


Asunto(s)
Enfermedades Autoinmunes/epidemiología , Hipertensión Pulmonar/epidemiología , Hipertiroidismo/epidemiología , Adolescente , Antihipertensivos/uso terapéutico , Autoanticuerpos/sangre , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Niño , Preescolar , Epoprostenol/uso terapéutico , Femenino , Humanos , Hipertensión Pulmonar/tratamiento farmacológico , Hipertiroidismo/diagnóstico , Hipertiroidismo/inmunología , Japón/epidemiología , Masculino , Prevalencia , Estudios Retrospectivos , Pruebas de Función de la Tiroides , Factores de Tiempo
12.
Endocr J ; 57(10): 909-13, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20798475

RESUMEN

The gonadal function of patients with Turner syndrome (TS) is variable. Individuals with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX are more likely to experience spontaneous menarche compared with other karyotypes. Prepubertal gonadotropins of TS patients with spontaneous menarche are reportedly normal or significantly lower than those of patients with induced menarche. The present study investigated an index of spontaneous and cyclical menstruation at 10-12 years old in TS. Subjects comprised 50 patients with TS, divided into three groups: Group A (n=7), with spontaneous menarche before 16 years old and regular menstruation for at least 1 year and 6 months; Group B (n=6), with irregular menstruation since menarche leading to secondary amenorrhea despite spontaneous menarche before 16 years old; and Group C (n=37), without spontaneous breast budding before 14 years old or without spontaneous menarche before 16 years old. Karyotype, LH and FSH concentrations at 10 and 12 years old were analyzed retrospectively. Spontaneous and cyclical menstruation was more frequently observed in TS with mosaicism characterized by 45,X/46,XX or 45,X/47,XXX than in TS with other karyotypes, as previously described. Spontaneous and cyclical menstruation in TS was observed when serum FSH level was <10 mIU/mL at 12 years old, suggesting this FSH level as an index of spontaneous and cyclical menstruation in TS.


Asunto(s)
Hormona Folículo Estimulante Humana/sangre , Ciclo Menstrual , Síndrome de Turner/sangre , Síndrome de Turner/fisiopatología , Adolescente , Adulto , Amenorrea/etiología , Biomarcadores/sangre , Cromosomas Humanos X/genética , Femenino , Humanos , Cariotipificación , Estudios Longitudinales , Hormona Luteinizante/sangre , Registros Médicos , Menarquia , Mosaicismo , Pubertad/sangre , Síndrome de Turner/genética , Adulto Joven
13.
J Cardiol Cases ; 13(2): 63-66, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30524558

RESUMEN

Percutaneous transcatheter aortic valve implantation (TAVI), first introduced in 2002, is a viable solution for previously inoperable or high-risk patients with aortic stenosis, providing the benefit of valve replacement without the associated risks of surgery. When these patients develop prosthetic valve endocarditis (PVE), management is complicated, owing to their often, atypical presentations and baseline comorbidities. Moreover, it is often difficult to detect vegetations in such patients, even with transesophageal echocardiography. Here, we describe a case of post-TAVI PVE that was successfully treated medically after a rapid diagnosis was made based on physical examination. Our experience shows that physical examination continues to be important for rapid diagnosis of infective endocarditis, even in the era of structural heart disease intervention. .

14.
J UOEH ; 27(2): 209-17, 2005 Jun 01.
Artículo en Japonés | MEDLINE | ID: mdl-15986776

RESUMEN

We investigated the isolation circumstances of multiple-drug-resistant Pseudomonas aeruginosa (MDRP) in the UOEH hospital and the bacterial analysis of isolated MDRP. From January to October 2003, MDRP was isolated from 2 patients. During this period, the isolation frequency of MDRP was 0.57% (2/350). Case 1 had 2 MDRP isolates from catheter urine, and case 2 had 5 MDRP isolates from pus. Regarding serotype, 2 isolates from case 1 were B type and the other 16 isolates from case 2 were E type. Pyomelanin was produced by 9 isolates of 16 E type isolates. The same PFGE patterns were observed in 2 isolates from case 1; that is, 9 pyomelanin producers from case 2 and the other 7 isolates from case 2, respectively. Metallo-beta-lactamase was produced by 2 isolates from case 1. bla(IMP) was detected from the 2 isolates by PCR, and the clones from case 1 were quite different from the clones from case 2. Regarding the pyomelanin producing isolates from case 2, although the clones were the same genetically, the MICs of imipenem and meropenem increased from 8 to > 32 microg/ml with the progress of time. In the UOEH hospital, 6 patients with MDRP isolates have been isolated so far, but these 6 patients are not correlated with each other. It is important that we detect and report MDRP as early as possible to prevent nosocomial infection.


Asunto(s)
Pseudomonas aeruginosa/aislamiento & purificación , Anciano , Resistencia a Múltiples Medicamentos , Humanos , Masculino , Melaninas/biosíntesis , Persona de Mediana Edad , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/metabolismo , Supuración/microbiología , Orina/microbiología
15.
Horm Res Paediatr ; 84(6): 370-5, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26402613

RESUMEN

BACKGROUND/AIMS: Patients developing neonatal thyroid dysfunction following maternal hysterosalpingography (HSG) involving the use of oil-soluble iodinated contrast medium (ethiodized oil) have been reported. The present study aimed to investigate the frequency and risk factors for neonatal thyroid dysfunction following HSG. METHODS: We studied 212 infants born to mothers who had become pregnant after undergoing HSG involving the use of ethiodized oil. RESULTS: Five of the 212 infants tested positive during congenital hypothyroidism screening; this frequency (2.4%) was higher than the recall rate among first congenital hypothyroidism screening results (0.7%) in Tokyo, Japan. Two of the 5 screening-positive infants showed hypothyroidism, and 3 showed hyperthyrotropinemia. The urinary iodine concentrations in 4 out of the 5 screening-positive infants were 1,150, 940, 1,570, and 319 µg/l. The subjects were divided into thyroid dysfunction (n = 5) and normal thyroid function (n = 207) groups. The median dosage of ethiodized oil in the thyroid dysfunction group was significantly higher than in the normal thyroid function group (20 vs. 8 ml, p = 0.033). CONCLUSION: When infertile women undergo HSG, the dosage of oil-soluble iodinated contrast medium should be as low as possible to minimize the risk of fetal or neonatal thyroid dysfunction.


Asunto(s)
Hipotiroidismo Congénito/etiología , Medios de Contraste/efectos adversos , Aceite Etiodizado/efectos adversos , Histerosalpingografía/efectos adversos , Hipotiroidismo Congénito/sangre , Femenino , Humanos , Histerosalpingografía/métodos , Recién Nacido , Embarazo , Pruebas de Función de la Tiroides , Tirotropina/sangre
16.
J Pediatr Endocrinol Metab ; 28(5-6): 657-61, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25928756

RESUMEN

Subjects who are heterozygous for thyroid stimulating hormone receptor (TSHR) gene mutations present various phenotypes that range from euthyroid to hyperthyrotropinemia. Similarly, heterozygous dual oxidase 2 (DUOX2) gene mutations result in variable phenotypes, such as transient congenital hypothyroidism, subclinical hyperthyrotropinemia, and euthyroid in children. Here, we describe an 8-year-old boy who had normal newborn screening results, but who developed nonautoimmune hypothyroidism at the age of 1 year and 8 months of age. He was heterozygous for previously reported R450H-TSHR mutation and heterozygous for a novel double mutant allele A1323T-DUOX2 and L1343F-DUOX2. He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 µg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism. Therefore, the coexistence of a heterozygous TSHR mutation and a heterozygous DUOX2 mutation may have affected the severity of his hypothyroid condition.


Asunto(s)
Heterocigoto , Hipotiroidismo/genética , Mutación , NADPH Oxidasas/genética , Receptores de Tirotropina/genética , Secuencia de Aminoácidos , Niño , Oxidasas Duales , Humanos , Masculino , Datos de Secuencia Molecular , NADPH Oxidasas/química , Homología de Secuencia de Aminoácido
17.
Int J Oncol ; 42(4): 1175-80, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23427003

RESUMEN

Polysaccharide K (PSK), a protein-bound polysaccharide used as a non-specific immunotherapeutic agent, is said to improve the prognosis of malignant tumors such as colon cancer, but there have been few in­depth investigations of its mechanism of action. In the present study, we investigated which genes in colon cancer cells themselves are regulated by PSK and what sort of action it exerts. Colon cancer cells were exposed to PSK in vitro and changes to their morphology and adhesive capacity were investigated, as were the changes in integrin expression that occurred. Exposure to PSK caused colon cancer cells to become spherical in morphology and investigation of their adhesion rate showed that it reduced adhesion to laminin, fibrinogen, collagen IV, collagen I and fibronectin. In terms of changes to molecules on the surface of cancer cells, there was reduced expression of integrin mRNA α and ß, which are ligands for the proteins of basement membrane. An investigation of the adhesiveness of PSK-stimulated colon cancer cells to vascular endothelial cells also showed that the adhesion rate decreased significantly compared with cells not exposed to PSK. Suppression of integrin expression on the cell surface and reduced adhesion to vascular endothelial cells were observed as a novel mechanism of action of PSK on colon cancer cells.


Asunto(s)
Antineoplásicos/farmacología , Integrinas/metabolismo , Proteoglicanos/farmacología , Adhesión Celular/efectos de los fármacos , Moléculas de Adhesión Celular/metabolismo , Forma de la Célula/efectos de los fármacos , Supervivencia Celular/efectos de los fármacos , Técnicas de Cocultivo , Neoplasias del Colon , Expresión Génica/efectos de los fármacos , Células HCT116 , Células HT29 , Células Endoteliales de la Vena Umbilical Humana/fisiología , Humanos , Integrinas/genética
18.
Clin Pediatr Endocrinol ; 18(4): 95-100, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23926367

RESUMEN

About 30% of children with elevated TSH levels during neonatal screening have a transient form of disorder. On the other hand, it has been reported that subclinical hypothyroidism persists in late childhood in about 30% of children found to be false-positive during neonatal screening. The aim of this study was to determine whether transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening are influenced by genetic background. The TSH receptor (TSHR), thyroid peroxidase (TPO) and dual oxidase 2 (DUOX2) genes, for which it has been reported that heterozygous defects cause neonatal transient thyroid dysfunction, were analyzed. Nine children with transient thyroid dysfunction or subclinical hypothyroidism detected during neonatal screening were studied. One child was heterozygous for a TSHR gene mutation (R450H), and another child was heterozygous for a TPO gene mutation (P883S). No children with mutation of the DUOX2 gene were identified. Genetic background may contribute to development of transient thyroid dysfunction and subclinical hypothyroidism detected during neonatal screening.

19.
Clin Pediatr Endocrinol ; 18(1): 23-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-24790376

RESUMEN

Adrenal crises (ACs) sometimes progress rapidly and can be fatal. The aims of the present study were to reveal whether stress doses of glucocorticoids (SDGs) can prevent progression of severe ACs and to suggest a method of prevention, through analysis of its clinical features. We studied 24 severe ACs (nine patients) that occurred after diagnosis of primary or secondary adrenal insufficiency, retrospectively. The following information was analyzed: 1) whether SDGs were given orally and/or sc; 2) duration from the time when some symptoms started to the time when the patient came to the hospital; and 3) presence of hypoglycemia and electrolyte disturbance (hyponatremia, hyperkalemia). Eleven crises occurred after taking SDGs. Ten crises progressed within 3 h. Six of these ten crises progressed to severe ACs despite the fact that the patients took SDGs. Six crises were observed in association with hypoglycemia, and five of these six crises occurred in patients under 5 yr of age. Three of the six crises in association with hypoglycemia progressed to ACs within 3 h. Two of the three crises progressed to severe status within 3 h despite the fact that the patients took SDGs. Electrolyte disturbance was observed in only one crisis. In conclusion, SDGs cannot prevent progression of all ACs. Progression can be associated with hypoglycemia, particularly in patients under 5 yr of age. Patients should be given guidance on an ongoing basis on how to prevent ACs and hypoglycemia.

20.
Clin Pediatr Endocrinol ; 17(3): 75-80, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-24790367

RESUMEN

Auxological data are the gold standard indexes of the therapeutic conditions in patients with CYP21 deficiency over long-term periods, whereas urinary pregnanetriol (PT) for 24 h has been used as an index for short-term periods. We previously reported that the range of 1.2-2.1 mg/m(2)/day of PT for 24 h (24-h PT) could be used as an index of optimal control in patients with CYP21 deficiency. The purpose of this study was to analyze the range of PT in the first morning urine samples (morning PT) as an index of optimal control in patients with CYP21 deficiency. First, the therapeutic periods of 15 participants (aged 2 yr and 5 mo to 17 yr and 4 mo) were classified into excessive, good or poor control periods using auxological data and Cushing-like symptoms, and 24-h PT levels were analyzed in each period, retrospectively. The 95% confidence intervals for the means of 24-h PT levels in the excessive, good and poor control periods were 0.24-2.24 (n=25), 2.88-4.92 (n=114) and 13.26-21.28 (n=72) mg/gCr, respectively. Subsequently, 24-h PT and morning PT levels collected on the same day were analyzed for 14 participants (aged 9 mo to 29 yr and 8 mo). There was a significant correlation between the above two PT levels (n=25, p<0.0001). When the 24-h PT range of the good control period, 2.88-4.92 mg/gCr, was adjusted by the correlation, the ideal morning PT range became 2.15-3.34 mg/gCr. In conclusion, a morning PT in the range of 2.2-3.3 mg/gCr can be used as an index of optimal control in patients with CYP21 deficiency.

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