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INTRODUCTION: Tumor-induced osteomalacia is an acquired rare disease manifested by hypophosphatemic osteomalacia due to excessive secretion of fibroblast growth factor 23 (FGF23). FGF 23 is a non-classical hormone secreted by bone tissue (osteocytes) and regulates phosphorus metabolism.The aim of this work is to present clinical experience in the diagnosis, treatment and rehabilitation of patients with tumor-induced osteomalacia. MATERIALS AND METHODS: 40 patients with clinically-confirmed tumor-induced osteomalacia were included in the study, 34 of whom had the tumor localized, 27 underwent surgical treatment and 21 achieved stable remission. RESULTS: The median age was 48 [41; 63] years, 43% were men, the time left from the the onset of the disease was 8 [4; 10] years. Biochemical findings were hypophosphatemia 0.47 [0.4; 0.53] mmol/l, a decrease in the tubular reabsorption phosphate 62 [52; 67]%, and an increase in alkaline phosphatase of 183 [112; 294] units/l. At the time of diagnosis, 100% had multiple pathological fractures, only 10% could move independently, and 77.5% classified the pain as unbearable (8-10 points according to the 10-point pain syndrome scale ). Among the methods used to detect tumors, the most sensitive were scintigraphy with tectrotide with SPECT/CT 71.4% (20/28) and MRI 90% (18/20). In 35% of cases, the tumor was localized in soft tissues and in 65% in bone tissue; The tumor was most often detected in the lower extremities, followed by the head in frequency of localization. 18 patients currently have no remission and they receive conservative treatment (phosphorus and alfacalcidol n=15 and burosumab n=3). In case of achieving remission (n=21), regression of clinical symptoms and restoration of bone and muscle mass was observed. Extensive excision of the tumor without prior biopsy resulted in the best percentage of remission - 87%. CONCLUSION: Tumor-induced osteomalacia is characterized by severe damage to bone and muscle tissue with the development of multiple fractures, muscle weakness and severe pain syndrome. In laboratory diagnostics, attention should be paid to hypophosphatemia, a decrease in the tubular reabsorption phosphate index and increased alkaline phosphatase. The use of functional diagnostic methods with a labeled somatostatin analogue to the subtype 2 receptor and MRI with contrast enhancement are the most accurate methods of topical diagnostics. In case of localization of the tumor, a wide excision without a preliminary biopsy is recommended.
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Hipofosfatemia , Neoplasias de Tejido Conjuntivo , Masculino , Humanos , Persona de Mediana Edad , Femenino , Neoplasias de Tejido Conjuntivo/diagnóstico , Neoplasias de Tejido Conjuntivo/cirugía , Neoplasias de Tejido Conjuntivo/patología , Fosfatasa Alcalina , Hipofosfatemia/diagnóstico , Hipofosfatemia/etiología , Hipofosfatemia/cirugía , Fosfatos , Fósforo , DolorRESUMEN
BACKGROUND: The majority of Kallmann patients have anosmia or hyposmia. This is how the disease is diagnosed. Some of them don't have such complaints but olfactory dysfunction is diagnosed via olfactometry. Nowadays there is the lack of information about correlation between olfactometry results and subjective complaints. Correlation between olfactory bulbs size and olfactory dysfunction has been little studied. AIM: To explore olfactory bulb size and olfactory function in patients with congenital isolated hypogonadotropic hypogonadism. To correlate olfactory bulb sizes and smell test scores. MATERIALS AND METHODS: Single-centre comparative study. 34 patients were included. The main group consisted of 19 patients with hypogonadotropic (15 -with Kallmann syndrome, 4 - with normosmic hypogonadism). Olfactory bulbs MRI were provided to all the patients, olfactory test (Sniffin' Sticks Test) and molecular-genetic studies were provided in all patients with hypogonadism. Control group consisted of 15 patients who were provided with orbits MRI. Olfactory bulbs were evaluated additionally in them. RESULTS: Normal size of olfactory bulbs were only in 1 patient with hypogonadism. Olfactory bulbs height and width were significantly smaller in patients with hypogonadism in comparison with control group (p<0.01). Height median of right bulb was 1.0 mm [0.2; 1.8] in patients from the main group vs. 3.0 [2.5; 3.2] in controls, width median of right bulb was 1.0 mm [0.2; 1.9] in patients from the main group vs. 2.5 [2.0; 3.0] in controls. Height median of left bulb was 0.8 mm [0.0; 1.2] in patients from the main group vs. 3.0 [2.7; 3.2] in controls, width median of left bulb was 0.8 mm [0.0; 1.2] in patients from the main group vs. 2.5 [2.0; 3.0] in controls. Correlation has been established between left bulb height (r=0.59) and width (r=0.67) and olfactometry results (p<0.05). 4 patients had no anosmia complaints but had olfactory dysfunction according to Sniffin' Sticks Tests. CONCLUSION: Olfactometry was able to diagnose olfactory dysfunction in 78.5% (i.e. in 15 out of 19 patients with congenital isolated hypogonadotropic hypogonadism. However, anosmia complaints had only 11 out of 19 patients. It is the first results of olfactory bulb sizes in patients with hypogonadotropic hypogonadism in Russia. Uni - or bilateral hypoor aplasia were diagnosed in 94.7% patients with hypogonadism regardless of olfactory dysfunction. Bilateral olfactory bulbs hypoplasia were the most common MRI-finding (36.8%). Unilateral hypoor aplasia was diagnosed in 31.6% patients.
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Hipogonadismo , Síndrome de Kallmann , Trastornos del Olfato , Humanos , Síndrome de Kallmann/complicaciones , Bulbo Olfatorio/diagnóstico por imagen , Bulbo Olfatorio/anomalías , Trastornos del Olfato/congénito , Trastornos del Olfato/diagnóstico , Hipogonadismo/complicaciones , Olfato , AnosmiaRESUMEN
AIM: To present a clinical case of reversible hypopituitarism due to hypophysitis developed after COVID-19 infection. MATERIALS AND METHODS: A patient with residual clinical manifestations of hypopituitarism underwent clinical evaluation at the time of symptoms of hypopituitarism and in follow-up. Morning serum cortisol (171-536 nmol/l) was measured by electrochemiluminescence immunoassay. Morning ACTH (7.2-63.3 pg/ml), prolactin (66-436 mU/l), TSH (0.25-3.5 mIU/L), fT4 (9-19 pmol/l) and fT3 (2.6-5.7 pmol/l) were measured by chemiluminescence immunoassay. Data were analyzed throughout the course of the disease. RESULTS: A 35-year-old female developed clinical symptoms of hypopituitarism two months after recovery from a confirmed COVID-19 infection. Laboratory investigation confirmed hypocorticism, hypothyroidism, hypogonadism and the patient was prescribed appropriate hormonal therapy in January 2021. Four months later the symptoms were alleviated (April 2021) and there were signs of recovery shown by imaging and hormonal: morning serum cortisol 227 nmol/l, morning ACTH 33.96 pg/ml, prolactin 68.3 mU/l, TSH 2.626 mIU/L, fT4 10.75 pmol/l, fT3 3.96 pmol/l. Thyroid hormone was discontinued, but hypogonadism and hypocorticism persisted with estradiol - 51.48 pmol/l, 24h urine cortisol level - 41.8 nmol/day. MRI results showed that the signs of hypophysitis were alleviated in comparison with MRI from January 2021. Full recovery of pituitary axis was reported in October 2021, with recovery of normal menstrual cycle. Furthermore, hormonal profile was likewise normal. CONCLUSION: This report provides evidence of delayed damage to the pituitary gland after infection with the COVID-19, with recovery of its function and structure. To date, the mechanisms of such an impact are not entirely clear; further collection of data on such cases and analysis is required.
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COVID-19 , Hipogonadismo , Hipofisitis , Hipopituitarismo , Hormona Adrenocorticotrópica , Adulto , COVID-19/complicaciones , Femenino , Humanos , Hidrocortisona/uso terapéutico , Hipopituitarismo/complicaciones , Prolactina , TirotropinaRESUMEN
BACKGROUND: Cushing's disease (CD) is a rare disorder of a persistent cortisol excess caused by ACTH-secreting pituitary tumor (corticotropinoma). Transsphenoidal surgery (TSS) is a treatment of choice for СD, which effectiveness range is from 70 to 90%. Recurrence rate after successful treatment is about 25%. If surgical treatment is unsuccessful or recurrence appear, radiation treatment is the next therapeutic option, which effectiveness range is also 90%, but the hypopituitarism rate as side effect of treatment is higher. Preoperative predictors of remission and recurrence are still unexplored what leads to further investigations. AIM: Analysis of remission and recurrence rates of pediatric CD after successful treatment according to preoperative MRI and therapeutic option. MATERIALS AND METHODS: We conducted a retrospective analysis of 90 pediatric patients with CD who were observed between 1992 and 2020 at the Endocrinology Research Centre. RESULTS: The most common clinical symptoms of CD were weight gain [94%] and growth retardation [72%]. Pituitary tumor was detected on radiological imaging in 53/90 patients [59%], there were no signs of visible adenoma in 37/90 of patients [41%]. 63 of 90 patients underwent TSS (70%), 27 patients underwent radiosurgery (30%). Remission rate after TSS was 71% [45/63], after radiosurgery - 85% [23/27]. There were no significant differences in remission rates after radical treatment according to preoperative MRI results (P=0.21 after TSS and P=0.87 after radiosurgery, Ñ 2 analysis). Recurrence after successful treatment was diagnosed in 10 patients. There were no significant differences in time to recurrence according to preoperative MRI results (P=0.055, Ñ 2 analysis). Time to recurrence was statistically different after TSS compared to radiosurgery (P=0.007, Kaplan-Meier analysis) and in the group with developed adrenal insufficiency in the early postoperative period (P=0.04, Kaplan-Meier analysis). Analysis of side effect of treatment showed that the frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery (Ñ<0.01, Kruskel-Wallis ANOVA test). Diabetes insipidus was diagnosed only after TSS. CONCLUSION: Results of our study didn`t allow to use MRI-results as predictor of effectiveness treatment in pediatric CD. Therapeutic option has an impact on time to recurrence, not on recurrence rates. The frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery compared to TSS. Further studies are needed to identify predictors of remission and recurrence in CD.>< 0.01, Kruskel-Wallis ANOVA test). Diabetes insipidus was diagnosed only after TSS. CONCLUSION: Results of our study didn`t allow to use MRI-results as predictor of effectiveness treatment in pediatric CD. Therapeutic option has an impact on time to recurrence, not on recurrence rates. The frequency of growth hormone and gonadotrophin deficiency was statistically higher after radiosurgery compared to TSS. Further studies are needed to identify predictors of remission and recurrence in CD.
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Adenoma , Diabetes Insípida , Hipopituitarismo , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT) , Neoplasias Hipofisarias , Niño , Hormona del Crecimiento , Humanos , Imagen por Resonancia Magnética , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/diagnóstico por imagen , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/patología , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/cirugía , Neoplasias Hipofisarias/cirugía , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
This article presents a literature review of the various forms of hypophysitis, its varieties, as well as the problem of radiation diagnosis and treatment of this pathology. Hypophysitis is a poorly understood and multifactorial disease which the difficulty of diagnosing is not only to a variety of nonspecific clinical manifestations and hormonal research data, but also the ambiguous results of MRI studies, the lack of clear MR patterns. The article reflects the main histological types of hypophysitis, the peculiarities of diagnosis in connection with general clinical symptoms, outlines the features of each type of hypophysitis with their own clinical observations. This review is devoted to modern ideas about the clinical course of hypophysitis, presented a set of characteristic diagnostic signs of the disease according to MRI and the treatment algorithms recommended today are also highlighted. The article summarizes data from foreign literature and our own clinical observations in order to develop an optimal protocol for MRI studies in patients with suspected hypophysitis, to develop recommendations for radiologists and endocrinologists for the correct results interpretation. The uniqueness of this review is the lack of data on the clinic, diagnosis and treatment of hypophysitis in the Russian literature today.
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Hipofisitis , Humanos , Hipofisitis/diagnóstico por imagen , Imagen por Resonancia Magnética , Radiografía , Federación de RusiaRESUMEN
BACKGROUND: Current genetic and genomic tests measuring homologous recombination deficiency (HRD) show limited predictive value. This study compares the performance of an immunohistology-based RAD51 test with genetic/genomic tests to identify patients with HRD primary triple-negative breast cancer (TNBC) and evaluates its accuracy to select patients sensitive to platinum-based neoadjuvant chemotherapy (NACT). PATIENTS AND METHODS: This is a retrospective, blinded, biomarker analysis from the GeparSixto randomized clinical trial. TNBC patients received neoadjuvant paclitaxel plus Myocet®-nonpegylated liposomal doxorubicin (PM) or PM plus carboplatin (PMCb), both arms including bevacizumab. Formalin-fixed paraffin-embedded (FFPE) tumor samples were laid on tissue microarrays. RAD51, BRCA1 and γH2AX were quantified using an immunofluorescence assay. The predictive value of RAD51 was assessed by regression models. Concordance analyses were carried out between RAD51 score and tumor BRCA (tBRCA) status or genomic HRD score (Myriad myChoice®). Associations with pathological complete response (pCR) and survival were studied. Functional HRD was predefined as a RAD51 score ≤10% (RAD51-low). RESULTS: Functional HRD by RAD51-low was evidenced in 81/133 tumors (61%). RAD51 identified 93% tBRCA-mutated tumors and 45% non-tBRCA mutant cases as functional HRD. The concordance between RAD51 and genomic HRD was 87% [95% confidence interval (CI) 79% to 93%]. In patients with RAD51-high tumors, pCR was similar between treatment arms [PMCb 31% versus PM 39%, odds ratio (OR) 0.71, 0.23-2.24, P = 0.56]. Patients with RAD51-low tumors benefited from PMCb (pCR 66% versus 33%, OR 3.96, 1.56-10.05, P = 0.004; interaction test P = 0.02). This benefit maintained statistical significance in the multivariate analysis. Carboplatin addition showed similar disease-free survival in the RAD51-high [hazard ratio (HR) 0.40, log-rank P = 0.11] and RAD51-low (0.45, P = 0.11) groups. CONCLUSIONS: The RAD51 test identifies tumors with functional HRD and is highly concordant with tBRCA mutation and genomic HRD. RAD51 independently predicts clinical benefit from adding Cb to NACT in TNBC. Our results support further development to incorporate RAD51 testing in clinical decision-making.
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Neoplasias de la Mama Triple Negativas , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Proteína BRCA1/genética , Carboplatino/uso terapéutico , Recombinación Homóloga , Humanos , Recombinasa Rad51/genética , Ensayos Clínicos Controlados Aleatorios como Asunto , Estudios Retrospectivos , Neoplasias de la Mama Triple Negativas/tratamiento farmacológico , Neoplasias de la Mama Triple Negativas/genéticaRESUMEN
AIM: Microsatellite instability (MSI) has been proposed as a possible mechanism in the development of cancer. The aim of the current study was to determine whether MSI is involved in the pathogenesis of paediatric malignant astrocytomas. METHODS: We screened a cohort of 126 high-grade astrocytoma samples for MSI using a sensitive and precise method of DNA analysis including a panel of five mononucleotide repeats, in combination with immunohistochemistry for DNA mismatch repair (MMR) proteins. RESULTS: We identified low level of MSI (MSI-L) in four of 126 (3.2%) paediatric malignant astrocytic tumours. To analyse the molecular profile associated with MSI-L positive tumours, we performed immunohistochemistry for protein expression of hMSH6 and p53 as well as mutational analysis of the K-ras gene. In MSI-L paediatric malignant astrocytic tumours we detected retained nuclear expression of hMSH6 protein and strong nuclear accumulation of p53 protein indicating possible mutations of TP53. There was no correlation between K-ras mutational status and frequency of MSI in this patient population. CONCLUSION: Our results suggest that the MSI-L phenotype is associated with p53 accumulation and/or mutations. However, this represents only a small subgroup of paediatric gliomas with possible distinct biological features, and the deficiencies of DNA MMR genes do not play a main role in the tumourigenesis of the majority of paediatric malignant astrocytomas.
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Astrocitoma/genética , Neoplasias Encefálicas/genética , Inestabilidad de Microsatélites , Niño , Análisis Mutacional de ADN , Proteínas de Unión al ADN/genética , Genes ras/genética , Humanos , Inmunohistoquímica , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Proteína p53 Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/metabolismoRESUMEN
A cross-sectional study of the cerebral epiphysis, by using brain magnetic resonance imaging was studied in 146 patients with hyper-prolactinemia and 141 persons without diseases of the endocrine or central nervous system. The purpose of the study was to compare the volume and structure of the pineal gland in hyperprolactinemic patients with the similar values in apparently healthy individuals. There was a significant increase in the volume of the epiphysis and a rise of the proportion of cysts and cystic changes in the structure of the epiphysis in patients with idiopathic hyperprolactinemia as compared with healthy individuals. The increased volume of the epiphysis and the change in its structure may be pathogeneticalfy associated with idiopathic hyperprolactinemia. To clarify this as-sumption, it is necessary to perform a larger study and to include hormonal tests characterizing epiphyseal function into the study protocol and to reveal a relationship between the changes in the sizes and structure of the epiphysis and the level of secretion of major hormones.
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BACKGROUND AND AIMS: In critically ill patients, fractional hepatic de novo lipogenesis increases in proportion to carbohydrate administration during isoenergetic nutrition. In this study, we sought to determine whether this increase may be the consequence of continuous enteral nutrition and bed rest. We, therefore, measured fractional hepatic de novo lipogenesis in a group of 12 healthy subjects during near-continuous oral feeding (hourly isoenergetic meals with a liquid formula containing 55% carbohydrate). In eight subjects, near-continuous enteral nutrition and bed rest were applied over a 10 h period. In the other four subjects, it was extended to 34 h. Fractional hepatic de novo lipogenesis was measured by infusing(13) C-labeled acetate and monitoring VLDL-(13)C palmitate enrichment with mass isotopomer distribution analysis. Fractional hepatic de novo lipogenesis was 3.2% (range 1.5-7.5%) in the eight subjects after 10 h of near continuous nutrition and 1.6% (range 1.3-2.0%) in the four subjects after 34 h of near-continuous nutrition and bed rest. This indicates that continuous nutrition and physical inactivity do not increase hepatic de novo lipogenesis. Fractional hepatic de novo lipogenesis previously reported in critically ill patients under similar nutritional conditions (9.3%) (range 5.3-15.8%) was markedly higher than in healthy subjects (P<0.001). These data from healthy subjects indicate that fractional hepatic de novo lipogenesis is increased in critically ill patients.
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Reposo en Cama , Carbohidratos de la Dieta/metabolismo , Nutrición Enteral , Lípidos/biosíntesis , Hígado/metabolismo , Adulto , Glucemia/análisis , Calorimetría Indirecta , Isótopos de Carbono , Enfermedad Crítica , Femenino , Humanos , Insulina/análisis , Metabolismo de los Lípidos , Masculino , Persona de Mediana Edad , Radioinmunoensayo , Factores de TiempoAsunto(s)
Descongestionantes Nasales/uso terapéutico , Enfermedades Nasales/tratamiento farmacológico , Enfermedades de los Senos Paranasales/tratamiento farmacológico , Extractos Vegetales/uso terapéutico , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Descongestionantes Nasales/administración & dosificación , Factores de TiempoRESUMEN
OBJECTIVE: The aim of this study was to clarify the relationship between morphologic changes of the pituitary gland and the genotype of Prophet of Pit-1 (PROP1), a newly discovered gene responsible for congenital combined pituitary hormone deficiency, in a series of eight humans with this disorder. CONCLUSION: Congenital hypoplasia of the anterior pituitary gland is the most common MR imaging finding in patients with combined pituitary hormone deficiency. Our findings suggest a crucial role for PROP1 in pituitary organogenesis as well as anterior pituitary cell differentiation.
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Proteínas de Homeodominio/genética , Imagen por Resonancia Magnética , Hipófisis/patología , Hormonas Hipofisarias/deficiencia , Factores de Transcripción/genética , Adolescente , Adulto , Femenino , Humanos , Masculino , MutaciónRESUMEN
146 patients were subjected to radical operations on the maxillary sinus with opening of the ethmoidal labyrinth cells. The superior effect of postoperative insertion of the latex tampon over gauze turunda was seen. Effective were also analgetics-antipiretics (paracetamol) and tactivin as medical correctors of early postoperative symptoms.
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Sinusitis del Etmoides/cirugía , Cuidados Posoperatorios , Acetaminofén/uso terapéutico , Adulto , Anciano , Analgésicos/uso terapéutico , Analgésicos no Narcóticos/uso terapéutico , Cafeína/uso terapéutico , Enfermedad Crónica , Codeína/análogos & derivados , Codeína/uso terapéutico , Combinación de Medicamentos , Sinusitis del Etmoides/tratamiento farmacológico , Humanos , Persona de Mediana Edad , Péptidos/uso terapéutico , Extractos del Timo/uso terapéutico , Resultado del TratamientoAsunto(s)
Quistes/complicaciones , Absceso Peritonsilar/complicaciones , Neoplasias de la Base del Cráneo/complicaciones , Adulto , Quistes/diagnóstico , Quistes/cirugía , Diagnóstico Diferencial , Estudios de Seguimiento , Humanos , Masculino , Absceso Peritonsilar/diagnóstico , Recurrencia , Neoplasias de la Base del Cráneo/diagnóstico , Neoplasias de la Base del Cráneo/cirugíaAsunto(s)
Otitis Media , Enfermedad Aguda , Oído Medio/microbiología , Oído Medio/patología , Oído Medio/cirugía , Haemophilus influenzae/aislamiento & purificación , Humanos , Moraxella catarrhalis/aislamiento & purificación , Otitis Media/microbiología , Otitis Media/patología , Otitis Media/cirugía , Oxígeno/sangre , Índice de Severidad de la Enfermedad , Streptococcus pneumoniae/aislamiento & purificaciónRESUMEN
The authors review variants of therapeutic policy in paratonsillitis. They think it necessary to perform in paratonsillar abscess abscess-tonsillectomy on the affected and tonsillectomy on the collateral side. Follow-up results are presented for cases of paratonsillitis treated in the ENT clinic of the Russian Medical University throughout 1990-1992.
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Celulitis (Flemón)/cirugía , Premedicación , Tonsilectomía/métodos , Tonsilitis/cirugía , Adulto , Celulitis (Flemón)/complicaciones , Drenaje , Femenino , Humanos , Masculino , Cuello , Cuidados Posoperatorios , Tonsilectomía/instrumentación , Tonsilitis/complicacionesRESUMEN
The action of bacterial insecticides based on Bacillus thuringiensis H-14 and B. sphaericus in a dose of 0.005-2 mg/l on the mermithids Romanomermis iyengari, R. culicivorax and R. jingdeensis was studied. It was shown that though bacterial agents suppressed mermithid preparasite larvae density about 30-40%, the survivors might invade 100% of mosquito larvae. The viability and fertility of adult mermithids did not change under the influence of bactoculicide in doses 5-50 times higher than those used against mosquitoes in practice. In combined field trials of sphaerolarvicide (1.5 kg/ha) and R. iyengari mermithids the infectivity of Anopheles sacharovi larvae reached 96%. Mermithids in combination with bactoculicide and sphaerolarvicide might be useful in integrated control systems because these bacterial agents are harmless for mermithids of all stages in doses useful against mosquito larvae.
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Anopheles , Bacillus thuringiensis , Bacillus , Toxinas Bacterianas , Insecticidas , Mermithoidea , Control de Mosquitos/métodos , Animales , Relación Dosis-Respuesta a Droga , Fertilidad/efectos de los fármacos , Larva , Compuestos OrgánicosRESUMEN
A group of 42 cystic fibrosis (CF) patients and 80 heterozygote carriers was analysed for determining the prevalent CF haplotypes and the frequency of delta F508. The "high-risk" haplotype B (XV2c-KM19/1 2) was found in 66% of CF chromosomes. The prevalent normal haplotypes were A (1 1) and B (2 1). The deletion was detected in 54 CF chromosomes (56%), homozygotes constituting 35% of all CF patients. In 88% of cases the mutation was linked to haplotype B, and in 12% to haplotype D (2 2). Chromosomes that did not have delta F508 were found to be evenly distributed among all four XV2c-KM19 haplotypes. The use of restriction fragment length polymorphisms and direct detection of the mutation makes 94% of CF families fully informative for prenatal analysis.
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Fibrosis Quística/genética , Bulgaria/epidemiología , Deleción Cromosómica , Fibrosis Quística/epidemiología , Frecuencia de los Genes , Humanos , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
Field trials of R. iyengari and R. culicivorax in the biological control for the mosquito larvae were conducted in Parkhar, Kuibyshevsk, Gissar districts and the outskirts of the city of Dushanbe, the Tadjik SSR. Larvae of Anopheles superpictus, An. pulcherrimus and An. hyrcanus in a dosage of 1-5 thousand intact larvae per sq. m were invaded by mermithids. The mean infection rate was 46 per cent. The maximum infection rate was 98 per cent. It depended on several factors: the dosage of intact larvae, temperature, water salinity, water flowage in the waterbodies and their overgrowth with plants. Slow-flowed rice paddies and flow-free fresh waterbodies turned to be the proper sites for mermithids. The effect was higher in Anopheles than in Culex mosquitos.