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1.
Clin Endocrinol (Oxf) ; 98(1): 41-48, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-35514026

RESUMEN

OBJECTIVE: Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow-up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients. DESIGN: A method was developed to measure steroids in hair, the stability of steroids in hair was assessed, and the concentration range in healthy volunteers was determined. Hair samples of patients, before and after starting therapy, were transported at ambient temperature to The Netherlands for analysis. PATIENTS: Twenty-two Indonesian CAH patients and 84 healthy volunteers participated. MEASUREMENTS: Cortisol, 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone in hair were measured by liquid chromatography with tandem mass spectrometry. RESULTS: Steroids in hair could be measured and remained stable (<4.9% deviation) for at least 3 weeks at 4°C and 30°C. In each of the untreated patients, hair concentrations of 17OHP (9.43-1135 pmol/g), androstenedione (36.1-432 pmol/g), and testosterone (2.85-69.2 pmol/g) were all above the upper limit of the corresponding range in healthy volunteers; 5.5 pmol/g, 13 pmol/g, and 1.8 pmol/g, respectively. After starting glucocorticoid treatment, the steroid concentrations in the hair of CAH patients decreased significantly for androstenedione (73%) and testosterone (59%) after 6 months. CONCLUSIONS: CAH could be confirmed in Indonesian patients based on the concentration of 17OHP, androstenedione, and testosterone in hair, and a treatment effect was observed. These findings open up opportunities to diagnose and/or monitor CAH in developing countries with a simple noninvasive technique.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Humanos , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Indonesia , Esteroides/uso terapéutico , Cabello , Testosterona
2.
Am J Med Genet A ; 182(11): 2731-2736, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32945093

RESUMEN

We present a family with three girls presenting similar dysmorphic features, including overgrowth, intellectual disability, macrocephaly, prominent forehead, midface retrusion, strabismus, and scoliosis. Both parents were unaffected, suggesting the presence of an autosomal recessive syndrome. Following exome sequencing, a heterozygous nonsense variant was identified in the NFIX gene in all three siblings. The father appeared to have a low-grade (7%) mosaicism for this variant in his blood. Previously, de novo pathogenic variants in NFIX have been identified in Marshall-Smith syndrome and Malan syndrome, which share distinctive phenotypic features shared with the patients of the present family. This case emphasizes the importance of further molecular analysis especially in familial cases, to exclude the possibility of parental mosaicism.


Asunto(s)
Discapacidades del Desarrollo/patología , Trastornos del Crecimiento/patología , Discapacidad Intelectual/patología , Mosaicismo , Mutación , Factores de Transcripción NFI/genética , Fenotipo , Adulto , Discapacidades del Desarrollo/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Linaje , Hermanos , Adulto Joven
3.
Am J Med Genet A ; 182(2): 303-313, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31854143

RESUMEN

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.


Asunto(s)
Anomalías Múltiples/epidemiología , Cara/anomalías , Síndrome de Noonan/epidemiología , Síndrome de Turner/epidemiología , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Adolescente , Adulto , Pueblo Asiatico/genética , Niño , Preescolar , Cromosomas Humanos X/genética , Cara/patología , Reconocimiento Facial , Femenino , Hispánicos o Latinos/genética , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Síndrome de Noonan/fisiopatología , Fenotipo , Vigilancia de la Población , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatología , Población Blanca/genética , Adulto Joven
4.
J Med Genet ; 56(7): 434-443, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31018998

RESUMEN

BACKGROUND: Desert hedgehog (DHH) gene variants are known to cause 46,XY differences/disorders of sex development (DSD). We have identified six patients with 46,XY DSD with seven novel DHH gene variants. Many of these variants were classified as variants of uncertain significance due to their heterozygosity or associated milder phenotype. To assess variant pathogenicity and to refine the spectrum of DSDs associated with this gene, we have carried out the first reported functional testing of DHH gene variant activity. METHODS: A cell co-culture method was used to assess DHH variant induction of Hedgehog signalling in cultured Leydig cells. Protein expression and subcellular localisation were also assessed for DHH variants using western blot and immunofluorescence. RESULTS: Our co-culture method provided a robust read-out of DHH gene variant activity, which correlated closely with patient phenotype severity. While biallelic DHH variants from patients with gonadal dysgenesis showed significant loss of activity, variants found as heterozygous in patients with milder phenotypes had no loss of activity when tested with a wild type allele. Taking these functional results into account improved clinical interpretation. CONCLUSION: Our findings suggest heterozygous DHH gene variants are unlikely to cause DSD, reaffirming that DHH is an autosomal recessive cause of 46,XY gonadal dysgenesis. Functional characterisation of novel DHH variants improves variant interpretation, leading to greater confidence in patient reporting and clinical management.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Proteínas Hedgehog/genética , Alelos , Células Cultivadas , Análisis Mutacional de ADN , Expresión Génica , Estudios de Asociación Genética/métodos , Genotipo , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética , Proteínas Hedgehog/metabolismo , Humanos , Células Intersticiales del Testículo/metabolismo , Masculino , Mutación , Fenotipo
5.
Am J Med Genet C Semin Med Genet ; 181(2): 177-186, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31037827

RESUMEN

The status of training in clinical genetics and genetic counseling in Asia is at diverse stages of development and maturity. Most of the training programs are in academic training centers where exposure to patients in the clinics or in the hospital is a major component. This setting provides trainees with knowledge and skills to be competent geneticists and genetic counselors in a variety of patient care interactions. Majority of the training programs combine clinical and research training which provide trainees a broad and integrated approach in the diagnosis and management of patients while providing opportunities for research discoveries that can be translated to better patient care. The background on how the training programs in clinical genetics and genetic counseling in Asia evolved to their current status are described. Each of these countries can learn from each other through sharing of best practices and resources.


Asunto(s)
Educación , Asesoramiento Genético/métodos , Genética Médica/educación , Asia , Educación/métodos , Educación/organización & administración , Educación/tendencias , Humanos
6.
Hum Genomics ; 11(1): 1, 2017 02 16.
Artículo en Inglés | MEDLINE | ID: mdl-28209183

RESUMEN

BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty. In rare cases, hypospadias may also be present. RESULTS: Here, we describe genetic mutational analysis of CHH genes in Indonesian 46,XY disorder of sex development patients with under-virilisation. We present 11 male patients with varying degrees of under-virilisation who have rare variants in known CHH genes. Interestingly, many of these patients had hypospadias. CONCLUSIONS: We postulate that variants in CHH genes, in particular PROKR2, PROK2, WDR11 and FGFR1 with CHD7, may contribute to under-virilisation phenotypes including hypospadias in Indonesia.


Asunto(s)
Hipogonadismo/congénito , Hipogonadismo/genética , Mutación , Adolescente , Niño , Preescolar , Estudios de Cohortes , ADN Helicasas/genética , Proteínas de Unión al ADN/genética , Hormonas Gastrointestinales/genética , Humanos , Hipogonadismo/patología , Indonesia , Lactante , Masculino , Proteínas de la Membrana/genética , Neuropéptidos/genética , Proteínas Proto-Oncogénicas/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Receptores Acoplados a Proteínas G/genética , Receptores de Péptidos/genética
7.
Public Health ; 157: 94-103, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29501987

RESUMEN

OBJECTIVES: To identify the factors associated with adolescent maternal healthcare utilization in Bangladesh. STUDY DESIGN: A secondary analysis was undertaken using the latest data set from the Bangladesh Demographic and Health Survey (2014). Data were collected from the cross-sectional survey carried out from June to mid November 2014. In total, 17,863 ever-married women aged 15-49 years were interviewed. According to the definition of the World Health Organization, 2029 of these women were adolescents and therefore eligible for inclusion in this study. METHODS: Both bivariate and multivariate logistic regression models were used to determine the factors influencing adolescent pregnancy, use of contraception, use of antenatal care services, facility-based delivery and presence of a skilled birth attendant at the last birth. The results are presented in terms of adjusted odds ratio (OR) with 95% confidence interval (CI), at a significance level of 5%. RESULTS: Maternal age, education, knowledge of menstrual regulations i.e. any procedure which disrupts the intra uterine environment, awareness of community clinic, household size, socio-economic status and administrative division were found to have a significant effect on adolescent pregnancy in Bangladesh. Sexual knowledge has a significant positive role in the use of modern contraceptives. Adolescents of low socio-economic status are significantly more likely to deliver at home compared with adolescents in the richest quintile (OR 0.26, 95% CI 0.15-0.47; P < 0.001). The likelihood of delivering at a health facility was higher among adolescents who had knowledge about sexually transmitted infections (OR 1.84, 95% CI 1.28-2.65; P < 0.001) and menstrual regulations (OR 1.41, 95% CI 1.04-1.91; P < 0.05). CONCLUSIONS: Adolescent maternal healthcare utilization was associated with a number of factors including low socio-economic status, limited reproductive knowledge (e.g. menstrual regulations, sexually transmitted infections) and geographical region. The study findings will serve to inform policy and would be beneficial for introducing need-based adolescent maternal health programmes by targeting a range of maternal health services and opportunities that contribute to better health and development for adolescent mothers in Bangladesh.


Asunto(s)
Servicios de Salud Materna/estadística & datos numéricos , Adolescente , Bangladesh , Niño , Estudios Transversales , Femenino , Encuestas de Atención de la Salud , Humanos , Embarazo , Factores Socioeconómicos , Adulto Joven
8.
Int J Nurs Pract ; 24(2): e12629, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29462836

RESUMEN

AIM: To examine current practice of genetic counselling by nurses. BACKGROUND: Recent debate argues that genetic counselling is a specialist advanced practice role, whilst others argue it is the role of all nurses. Current evidence is required to determine if genetic counselling could be included in all nurses' scope of practice. DESIGN: Integrative literature review. DATA SOURCES: A search of electronic databases (CINHAL, Medline, PubMed, Scopus), and reference lists published between January 2012 and March 2017, was undertaken. REVIEW METHODS: Studies were critically appraised for methodological quality using the Critical Appraisal Skills Programme. Data from each study were extracted and categorized according to their primary findings. RESULTS: The inclusion criteria were met in 10 studies. Main findings were identified: role of genetic counselling, current knowledge, need for further education, and client satisfaction with nurse genetic counsellors. CONCLUSION: This paper concludes that some nurses do engage in genetic counselling, but how they engage is not consistent, nor is there consensus about what should be the scope of practice. Further investigation into credentialing, role recognition support and education for nurse genetic counselling are strongly recommended. As nurses are widely available, nurses can make a significant contribution to supporting those affected by genetic problems.


Asunto(s)
Asesoramiento Genético , Rol de la Enfermera , Humanos
9.
Infect Immun ; 85(10)2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28760930

RESUMEN

The obligate intracellular parasite Toxoplasma gondii can actively infect any nucleated cell type, including cells from the immune system. The rapid transfer of T. gondii from infected dendritic cells to effector natural killer (NK) cells may contribute to the parasite's sequestration and shielding from immune recognition shortly after infection. However, subversion of NK cell functions, such as cytotoxicity or production of proinflammatory cytokines, such as gamma interferon (IFN-γ), upon parasite infection might also be beneficial to the parasite. In the present study, we investigated the effects of T. gondii infection on NK cells. In vitro, infected NK cells were found to be poor at killing target cells and had reduced levels of IFN-γ production. This could be attributed in part to the inability of infected cells to form conjugates with their target cells. However, even upon NK1.1 cross-linking of NK cells, the infected NK cells also exhibited poor degranulation and IFN-γ production. Similarly, NK cells infected in vivo were also poor at killing target cells and producing IFN-γ. Increased levels of transforming growth factor ß production, as well as increased levels of expression of SHP-1 in the cytosol of infected NK cells upon infection, were observed in infected NK cells. However, the phosphorylation of STAT4 was not altered in infected NK cells, suggesting that transcriptional regulation mediates the reduced IFN-γ production, which was confirmed by quantitative PCR. These data suggest that infection of NK cells by T. gondii impairs NK cell recognition of target cells and cytokine release, two mechanisms that independently could enhance T. gondii survival.


Asunto(s)
Inmunomodulación , Células Asesinas Naturales/microbiología , Células Asesinas Naturales/fisiología , Toxoplasma/inmunología , Toxoplasmosis Animal/inmunología , Animales , Citotoxicidad Inmunológica , Células Dendríticas/inmunología , Células Dendríticas/microbiología , Interacciones Huésped-Parásitos , Interferón gamma/biosíntesis , Interferón gamma/inmunología , Células Asesinas Naturales/inmunología , Ratones , Fosforilación , Proteína Tirosina Fosfatasa no Receptora Tipo 6/biosíntesis , Proteína Tirosina Fosfatasa no Receptora Tipo 6/genética , Factor de Transcripción STAT4/metabolismo , Toxoplasma/fisiología , Factor de Crecimiento Transformador beta/biosíntesis
10.
Mymensingh Med J ; 26(3): 525-529, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28919605

RESUMEN

Hypertensive disorders are one of the most common disorders in pregnancy. They are amongst the major cause of maternal and perinatal morbidity and mortality. Incidence is increasing in developing countries like Bangladesh. This cross sectional descriptive study has done to observe the utilization of antihypertensive drugs in hypertensive disorders of pregnancy and conducted from January 2016 to December 2016 in the department of Pharmacology in collaboration with department of Gynecology and Obstetrics in Mymensingh Medical College Hospital, Mymensingh, Bangladesh. Non random purposive sampling technique was used. Total of 300 patients participated in the study, 281 anti partum and 19 postpartum. Age distribution showed 42% patients were in 21-25 years age group. Majority of the participants (91%) were housewife and majority (79%) came from poor socioeconomic status with below SSC education (68%). About 82% patients lived in rural area. Trimester and gravida wise distribution showed most of the participants were 3rd trimester (61%) and primigravida (57%) and only 6% patients belong to postpartum period. In this study preeclampsia was highest (63.8%) among all other types of hypertensive diseases in pregnancy. Majority of the patient were preferred for dual therapy (53%), mono therapy was used in 29% of cases. Most frequently given drug in pregnancy associated hypertension was methyldopa that is 88.33% (single 22.3%, combination 66%). Second most commonly used drug was nifidipine consisting of 47.6% but used in combination in all cases. Average number of anti hypertensive drugs prescribed per prescription was 1.87 and majorities (92%) were from essential drug list but used as trade name. Preeclampsia and eclampsia were more common among the hypertensive disorders in tertiary level hospital cases. Methyldopa was found to be the commonest prescribed antihypertensive in monotherapy and in combination.


Asunto(s)
Antihipertensivos , Hipertensión Inducida en el Embarazo , Antihipertensivos/uso terapéutico , Bangladesh , Estudios Transversales , Femenino , Humanos , Hipertensión Inducida en el Embarazo/tratamiento farmacológico , Periodo Posparto , Embarazo , Centros de Atención Terciaria
11.
Clin Endocrinol (Oxf) ; 85(2): 247-57, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-26935236

RESUMEN

OBJECTIVE: The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. METHODS: A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. RESULTS: The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. CONCLUSION: A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients.


Asunto(s)
Trastornos del Desarrollo Sexual/diagnóstico , Hormonas/sangre , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Factores de Edad , Androstenodiona/sangre , Niño , Preescolar , Trastornos del Desarrollo Sexual/sangre , Trastornos del Desarrollo Sexual/genética , Femenino , Hormona Folículo Estimulante/sangre , Genotipo , Disgenesia Gonadal 46 XY , Humanos , Indonesia , Lactante , Recién Nacido , Hormona Luteinizante/sangre , Masculino , Fenotipo , Cromosomas Sexuales/genética , Testosterona/sangre
12.
Lett Appl Microbiol ; 62(5): 411-8, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26972777

RESUMEN

UNLABELLED: For an effective control of tuberculosis, rapid detection of multidrug resistant tuberculosis (MDR-TB) is necessary. Therefore, we developed a modified nested multiplex allele-specific polymerase chain reaction (MAS-PCR) method that enables rapid MDR-TB detection directly from sputum samples. The efficacy of this method was evaluated using 79 sputum samples collected from suspected tuberculosis patients. The performance of nested MAS-PCR method was compared with other MDR-TB detection methods like drug susceptibility testing (DST) and DNA sequencing. As rifampicin (RIF) resistance conforms to MDR-TB in greater than 90% cases, only the presence of RIF-associated mutations in rpoB gene was determined by DNA sequencing and nested MAS-PCR to detect MDR-TB. The concordance between nested MAS-PCR and DNA sequencing results was found to be 96·3%. When compared with DST, the sensitivity and specificity of nested MAS-PCR for RIF-resistance detection were determined to be 92·9 and 100% respectively. SIGNIFICANCE AND IMPACT OF THE STUDY: For developing- and high-TB burden countries, molecular-based tests have been recommended by the World Health Organization for rapid detection of MDR-TB. The results of this study indicate that, nested MAS-PCR assay might be a practical and relatively cost effective molecular method for rapid detection of MDR-TB from suspected sputum samples in developing countries with resource poor settings.


Asunto(s)
Antituberculosos/farmacología , Farmacorresistencia Bacteriana Múltiple/genética , Mycobacterium tuberculosis/efectos de los fármacos , Mycobacterium tuberculosis/genética , Esputo/microbiología , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Tuberculosis Resistente a Múltiples Medicamentos/genética , Adulto , Alelos , Proteínas Bacterianas/genética , ARN Polimerasas Dirigidas por ADN/genética , Femenino , Humanos , Isoniazida/farmacología , Reacción en Cadena de la Polimerasa Multiplex/métodos , Rifampin/farmacología , Análisis de Secuencia de ADN , Tuberculosis Resistente a Múltiples Medicamentos/microbiología
13.
Hum Mutat ; 36(12): 1145-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26247899

RESUMEN

We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-ß signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-ß signaling pathway exhibit arterial aneurysms and dissections as key features.


Asunto(s)
Aneurisma/genética , Disección Aórtica/genética , Arterias/metabolismo , Arterias/patología , Mutación , Proteína Smad2/genética , Adulto , Alelos , Aneurisma/diagnóstico , Aneurisma/metabolismo , Disección Aórtica/diagnóstico , Disección Aórtica/metabolismo , Biología Computacional/métodos , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Modelos Moleculares , Dominios y Motivos de Interacción de Proteínas , Análisis de Secuencia de ADN , Proteína Smad2/química , Adulto Joven
14.
Am J Med Genet A ; 167(6): 1354-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25900641

RESUMEN

The fragile X-associated tremor ataxia syndrome (FXTAS) is caused by the premutation in FMR1 gene. Recent reports of environmental toxins appear to worsen the progression of FXTAS. Here we present a case of male adult with FXTAS and a long history of methadone use. The patient shows a faster progression in both symptoms of disease and MRI changes compared to what is typically seen in FXTAS. There has been no research regarding the role of narcotics in onset, progression, and severity of FXTAS symptoms. However, research has shown that narcotics can have a negative impact on several neurodegenerative diseases, and we hypothesize that in this particular case, methadone may have contributed to a faster progression of FXTAS as well as exacerbating white matter disease through RNA toxicity seen in premutation carriers.


Asunto(s)
Ataxia/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Metadona/administración & dosificación , Narcóticos/administración & dosificación , Trastornos Relacionados con Sustancias/genética , Temblor/genética , Sustancia Blanca/efectos de los fármacos , Ataxia/complicaciones , Ataxia/patología , Progresión de la Enfermedad , Síndrome del Cromosoma X Frágil/complicaciones , Síndrome del Cromosoma X Frágil/patología , Expresión Génica , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Trastornos Relacionados con Sustancias/complicaciones , Trastornos Relacionados con Sustancias/patología , Temblor/complicaciones , Temblor/patología , Sustancia Blanca/metabolismo , Sustancia Blanca/patología
15.
Arch Sex Behav ; 44(5): 1339-61, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25813609

RESUMEN

In most Western countries, clinical management of disorders of sex development (DSD), including ambiguous genitalia, begins at diagnosis soon after birth. For many Indonesian patients born with ambiguous genitalia, limited medical treatment is available. Consequently, affected individuals are raised with ambiguous genitalia and atypical secondary sex characteristics. We investigated gender identity and gender role behavior in 118 Indonesian subjects (77 males, 41 females) with different types of DSD in comparison with 118 healthy controls matched for gender, age, and residential setting (rural, suburban, or urban). In Study 1, we report on methodological aspects of the investigation, including scale adaptation, pilot testing, and determining reliability and validity of measures. In Study 2, we report on gender development in 60 children (42 boys, 18 girls), 24 adolescents (15 boys, 9 girls), and 34 adults (19 men, 15 women) with DSD. The majority of participants with DSD never received any medical or surgical treatment prior to this study. We observed a gender change in all age groups, with the greatest incidence in adults. Among patients who changed, most changed from female to male, possessed a 46,XY karyotype, and had experienced significant masculinization during life. Gender identity confusion and cross-gender behavior was more frequently observed in children with DSD raised as girls compared to boys. Puberty and associated masculinization were related to gender problems in individuals with 46,XY DSD raised female. An integrated clinical and psychological follow-up on gender outcome is necessary prior to puberty and adulthood.


Asunto(s)
Trastornos del Desarrollo Sexual/epidemiología , Identidad de Género , Desarrollo Psicosexual , Diferenciación Sexual , Maduración Sexual , Adolescente , Adulto , Niño , Trastornos del Desarrollo Sexual/diagnóstico , Femenino , Humanos , Indonesia/epidemiología , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , Caracteres Sexuales , Adulto Joven
16.
Lett Appl Microbiol ; 60(2): 168-173, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25370946

RESUMEN

Foot-and-mouth disease virus (FMDV) serotypes O, A and Asia1 are responsible for significant number of disease outbreaks in Bangladesh; however serotype Asia1 has not been reported in circulation since 1996. The present investigation reports the detection of serotype FMDV Asia1 from local farms in 2012 and 2013 outbreaks. The farms were located in Jessore and Gazipur districts, and one of these farms was under vaccine control programme. Phylogenetic analysis of the complete VP1 gene revealed that FMDV Asia1 is under genetic lineage C having close similarity to the Asia1 sequences of Indian origin. The circulatory genotype Asia1 showed VP1 protein sequence heterogeneity of eight amino acid substitutions within the G-H loop with the vaccine strain [IND 63/72 (AY304994)] used in vaccination programme. ELISA assay revealed that, of seven, only one local field serum sample (cattle vaccinated 38 days earlier) was positive at a titre level of >2.4 (log10) but failed to protect the cattle from infection occurred by the virus. This investigation focused that the eight amino acid substitution in VP1 protein at G-H loop of the locally circulated FMDV serotype Asia1 strain may be a reason for current vaccination failure.


Asunto(s)
Proteínas de la Cápside/genética , Enfermedades de los Bovinos/virología , Virus de la Fiebre Aftosa/genética , Virus de la Fiebre Aftosa/inmunología , Fiebre Aftosa/virología , Vacunas Virales , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Animales , Bangladesh/epidemiología , Secuencia de Bases , Proteínas de la Cápside/química , Bovinos , Enfermedades de los Bovinos/epidemiología , Fiebre Aftosa/epidemiología , Virus de la Fiebre Aftosa/clasificación , Modelos Moleculares , Datos de Secuencia Molecular , Filogenia , Conformación Proteica , Serogrupo
17.
Lett Appl Microbiol ; 60(2): 128-134, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25402810

RESUMEN

White Spot Syndrome Virus (WSSV) is a dsDNA virus causing White Spot Syndrome Disease (WSSD) in shrimp with almost 100% morality rate within 3-10 days. In Bangladesh, WSSD is one of the major impediments of shrimp farming. This study first investigated the prevalence and distribution of WSSV in cultured shrimps of the coastal regions in Bangladesh. A total of 60 shrimp samples, collected from the 25 shrimp farms of different coastal regions (Satkhira, Khulna, Bagerhat and Cox's Bazar), were analysed during 2013-2014 by conventional PCR using VP28 and VP664 gene-specific primers; 39 of 60 samples were found WSSV positive. SYBR green real-time PCR using 71-bp amplicon for VP664 gene correlated well with conventional PCR data. The prevalence rates of WSSV among the collected 60 samples were Satkhira 79%, Khulna 50%, Bagerhat 38% and Cox's Bazar 25%. Sequencing of WSSV-positive PCR amplicons of VP28 showed 99% similarity with WSSV NCBI Ref/Seq Sequences. Molecular analysis of the VP28 gene sequences of WSSV revealed that Bangladeshi strains phylogenetically affiliated to the strains belong to India. This work concluded that WSSV infections are widely distributed in the coastal regions cultured shrimp in Bangladesh.


Asunto(s)
Acuicultura , Penaeidae/virología , Virus del Síndrome de la Mancha Blanca 1/aislamiento & purificación , Animales , Bangladesh , India , Datos de Secuencia Molecular , Filogenia , Reacción en Cadena de la Polimerasa , Prevalencia , Reacción en Cadena en Tiempo Real de la Polimerasa , Virus del Síndrome de la Mancha Blanca 1/clasificación , Virus del Síndrome de la Mancha Blanca 1/genética
18.
Mymensingh Med J ; 24(4): 743-9, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26620013

RESUMEN

Deafness is the hidden disability and the most common human sensory defects which lead to poor educational and employment prospects of childhood. Is there any association of consanguinity and hearing loss or are there any difference of association of consanguinity and hearing loss in specialized and public school children and how much risk is associated?--were the research questions of this study. Total 428 participants have been selected randomly. Hearing impaired were 186 participants and 242 participants were normal hearing school boy. This was a case control, analytical, hypotheses testing study. In normal public school children group, consanguinity was present in 2.5% parents. The rest were married with non relatives. In parents of hearing impaired children group, consanguinity was very high (17.2%). Pearson chi-square test and Odds ratio analysis was done. The value was less than 0.05 and ratio was 8.173. The 'p' value of Pearson chi-square test was less than 0.05. So, the test was highly significant at 95% confidence interval. Odds ratio showed that the risk of profound sensorineural hearing loss in the baby of parents of consanguineous marriages 8.173 times higher than that of non consanguineous marriages.


Asunto(s)
Consanguinidad , Pérdida Auditiva Sensorineural/etiología , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Niño , Femenino , Humanos , Lactante , Masculino , Oportunidad Relativa , Padres , Factores de Riesgo
19.
Mymensingh Med J ; 24(3): 497-501, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26329946

RESUMEN

A cross sectional descriptive study was designed to find out the difference in weight of the thyroid gland of Bangladeshi people in relation to age and sex. The present study was performed on 70 post mortem human thyroid gland (35 of male and 35 of female) collected from the morgue in the Department of Forensic Medicine, Mymensingh Medical College, Mymensingh by purposive sampling technique. The specimens were collected from Bangladeshi cadavers of age ranging from 10 years to 85 years. All the specimens were grouped into three categories Group A (upto 20 years), Group B (21 to 50 years) and Group C (>50 years) according to age. Dissection was performed according to standard autopsy techniques. The weight of the thyroid glands were measured and recorded. The mean weight of the thyroid gland was 6.94 ± 5.20 gm in Group A, 7.91 ± 5.89 gm in Group B and 10.42 ± 6.27 gm in Group C. The mean weight of the thyroid gland in male was 7.0 ± 5.77 gm in Group A, 9.94 ± 7.63 gm in Group B and 11.89 ± 5.73 gm in Group C and in female was 6.88 ± 4.88 gm in Group A, 5.88 ± 2.15 gm in Group B and 9.10 ± 6.74 gm in Group C. Variance analysis shows that there was no significant difference in mean weight between the Age Group A & B, B & C and C & A. There was significant difference of weight of thyroid gland between sex in age Group B but in Group A and Group C were statistically insignificant. The weight of the thyroid gland was found to increases with age. In statistical analysis, differences between age groups were analyzed by using one way ANOVA test. The present study will help to increase the information pool on the weight of thyroid gland of Bangladeshi people.


Asunto(s)
Glándula Tiroides/patología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Pueblo Asiatico , Autopsia , Bangladesh , Peso Corporal , Cadáver , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores Sexuales , Adulto Joven
20.
Bangladesh Med Res Counc Bull ; 41(2): 73-80, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29624285

RESUMEN

Silkworm, Bombyx mori, has passive immunity and can be infected by pathogenic bacteria. Therefore, it can be used as a robust bacterial infection model for screening of pathogenic isolates from various sources. In this work, 11 environmental, clinical and veterinary isolates were screened for pathogenicity using silkworm larvae by injecting bacterial suspension through their dorsal surface and observing response. Experimental conditions were established by using Bacillus thuringiensis SW_R_F_1, Escherichia coli 0157:H7, E. coli DH5a and 0.6% saline. Nine out of 11 isolates were detected pathogenic after screening. The biochemical and genomic analysis of the nine test isolates confirmed their pathogenicity. The LD50 of Pseudomonas aeruginosa 47D and Salmonella Typhimurium 77 were 4.63x107 at 12 hours was 8.02x107 cells/lOOµI/gram at 24 hours respectively. These results indicated that silkworm exhibits differential pathological response for pathogenic and nonpathogenic bacteria, and can be used as an alternative to animal model for screening diverse isolates.


Asunto(s)
Bacterias/patogenicidad , Infecciones Bacterianas/microbiología , Infecciones Bacterianas/veterinaria , Bombyx , Modelos Animales de Enfermedad , Animales , Genotipo , Larva , Dosificación Letal Mediana , Fenotipo
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