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1.
Nat Commun ; 10(1): 2884, 2019 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-31253780

RESUMO

Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease in homozygosis or heterozygosis, and yet is significantly enriched in HRD patients (frequency = 2.1%, i.e., a 3.5-fold enrichment; p-value = 9.2 × 10-5). Familial co-segregation and association analyses show that p.Arg1933* can act as a Mendelian mutation in trans with the Alu insertion, but might also associate with disease in combination with two alleles in the EYS gene in a non-Mendelian pattern of heredity. Our results suggest that rare conditions such as HRDs can be paradoxically determined by relatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritance.


Assuntos
Ciliopatias/genética , Proteínas do Olho/genética , Predisposição Genética para Doença , Doenças Retinianas/genética , Elementos Alu/genética , Grupo com Ancestrais do Continente Asiático/genética , Genômica , Humanos , Japão , Mutação , Linhagem
2.
Int J Legal Med ; 2018 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-30327922

RESUMO

Pakistan is located at an important cross-road of human history and has been a passageway for many invaders and dynasties in the past. The historic human migrations across this country have resulted in a blend of ancient civilizations, which are still reflected in the current socio-cultural fabrication of this population. This makes Pakistan an ideal country to study the genetic differentiation and various other genomic aspects of a human population.

3.
PeerJ ; 6: e4245, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29441229

RESUMO

Background: Beaches are recreational spots for people. However, beach sand contains harmful microbes that affect human health, and there are no established methods for either sampling and identifying beach-borne pathogens or managing the quality of beach sand. Method: This study was conducted with the aim of improving human safety at beaches and augmenting the quality of the beach experience. Beach sand was used as a resource to isolate bacteria due to its distinctive features and the biodiversity of the beach sand biota. A selected bacterial isolate termed FSRS was identified as Pseudomonas stutzeri using 16S rRNA sequencing and phylogenetic analysis, and the sequence was deposited in the NCBI GenBank database under the accession number MF599548. The isolated P. stutzeri bacterium was cultured in Luria-Bertani growth medium, and a crude extract was prepared using ethyl acetate to examine the potential pathogenic effect of P. stutzeri on human skin. A human skin keratinocyte cell line (HaCaT) was used to assess cell adhesion, cell viability, and cell proliferation using a morphological analysis and a WST-1 assay. Result: The crude P. stutzeri extract inhibited cell adhesion and decreased cell viability in HaCaT cells. We concluded that the crude extract of P. stutzeri FSRS had a strong pathological effect on human skin cells. Discussion: Beach visitors frequently get skin infections, but the exact cause of the infections is yet to be determined. The beach sand bacterium P. stutzeri may, therefore, be responsible for some of the dermatological problems experienced by people visiting the beach.

4.
Pak J Pharm Sci ; 31(1(Suppl.)): 353-358, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29386165

RESUMO

Spectrophotometric technique is considered to be the simplest and operator friendly among other available analytical methods for pharmaceutical analysis. The objective of the study was to develop a precise, accurate and rapid UV-spectrophotometric method for the estimation of chlorpheniramine maleate (CPM) in pure and solid pharmaceutical formulation. Drug absorption was measured in various solvent systems including 0.1N HCl (pH 1.2), acetate buffer (pH 4.5), phosphate buffer (pH 6.8) and distil water (pH 7.0). Method validation was performed as per official guidelines of ICH, 2005. High drug absorption was observed in 0.1N HCl medium with λmax of 261nm. The drug showed the good linearity from 20 to 60µg/mL solution concentration with the correlation coefficient linear regression equation Y= 0.1853 X + 0.1098 presenting R2 value of 0.9998. The method accuracy was evaluated by the percent drug recovery, presents more than 99% drug recovery at three different levels assessed. The % RSD value <1 was computed for inter and intraday analysis indicating the high accuracy and precision of the developed technique. The developed method is robust because it shows no any significant variation in with minute changes. The LOD and LOQ values were assessed to be 2.2µg/mL and 6.6µg/mL respectively. The investigated method proved its sensitivity, precision and accuracy hence could be successfully used to estimate the CPM content in bulk and pharmaceutical matrix tablets.

5.
Springerplus ; 5(1): 859, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27386308

RESUMO

Fish is a vital food for humans and many animals. We report an environmental monitoring study to assess the trace metals in fish species caught from Arabian Sea and commercially available in the coastal city Karachi, Pakistan. Heavy metals such as copper, iron, lead and cadmium were determined in the skin, fillet and heart of the fish species Pampus argenteus, Epinephelus chlorostigma, Rachycentron canadum, Scomberomorus commerson, Johnius belangerii, Labeo rohita, Lutjanus argentimaculatus, Trachinotus blochii, Pomadsys olivaceum and Acanthopagrus berda by the atomic absorption spectrophotometer. The concentration (mg kg(-1), dry weight) range was: Cd (0.00-0.041), Cu (0.006-0.189), Fe (0.413-4.952) and Pb (0.00-0.569). Cadmium, copper and iron levels were below the tolerable limits whereas concentration of lead in the skins of S. commerson, E. chlorostigma, J. belangerii, A. berda; L. argentimaculatus, fillets of J. belangerii, E. chlorostigma and in the heart of J. belangerii exceeded the recommended limits. Therefore fish skin should be discouraged as food for humans or animals. The results indicate that a number of fish species have higher concentration of heavy metals dangerous for human health. Since the fish P. olivaceum (Dhotar) has the lowest level of trace metals therefore we recommend it for breeding and human consumption.

8.
J Biosoc Sci ; 48(1): 113-28, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26627887

RESUMO

The north-western populations of Pakistan in the Federally Administered Tribal Areas (FATA) adjoining the Pakistan-Afghanistan border are an amalgamation of native and migrated Pashtun tribes. These tribal populations are in transition due to war conditions and geo-political turmoil on both sides of the border since the Soviet invasion in 1979. Bio-demographic and epidemiological data for these tribes are scarce. A prospective cross-sectional sample of 967 males was selected from a representative Pashtun population of Bajaur Agency, and information obtained on bio-demographic variables and marital union types. Analysis of these data revealed that consanguinity was 22.34% and the inbreeding coefficient F was calculated to be 0.0134. The inbreeding coefficient was observed to be higher in subjects who were illiterate, had unskilled jobs and who belonged to younger age categories, extended families and the Tarkalani tribe. Further analyses with respect to temporal variables like subject's age, year of marriage and age at marriage revealed that after a transition in marital union types in the early 80s, there has been a declining trend in the rate of consanguineous unions. Further, consanguineous unions in the parental generation were only 5%, but parental marriage types were predictors of subjects' marital union types. The data further establish that, contrary to a general notion about a high consanguinity rate in Pakistan, consanguineous unions are not common in Bajaur Agency and first cousin marriage is not the preferred type. Furthermore, this research shows that there is a great regional variation in the pattern of consanguinity in Pakistan that needs to be documented in order to draw a more comprehensive picture of the inbreeding coefficient in the country.


Assuntos
Consanguinidade , Grupos Étnicos/estatística & dados numéricos , Casamento/etnologia , Casamento/estatística & dados numéricos , Adolescente , Adulto , Afeganistão , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Família/etnologia , Família/psicologia , Características da Família/etnologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paquistão , Estudos Prospectivos , População Rural/estatística & dados numéricos , Inquéritos e Questionários , População Urbana/estatística & dados numéricos , Guerra , Adulto Jovem
9.
Anal Sci ; 21(9): 1133-5, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16363487

RESUMO

In this study, a simple, fast, accurate and sensitive spectrophotometric method has been developed for the determination of tranexamic acid in bulk and pharmaceutical preparations. The method is based on the reaction of ninhydrin with the primary amino group of tranexamic acid in the basic medium at pH 8.0. The reaction produces a bluish-purple color which absorbs maximally at 565 nm. Beer's law was obeyed in the range of 3-40 microg ml(-1) with molar absorptivity of 5.093 x 10(3) L mol(-1) cm(-1). The effects of various factors such as temperature, heating time, concentration of reagent, color stability and interferences were investigated to optimize the procedure. The results have been validated analytically and statistically. The proposed method has been applied for the determination of tranexamic acid in bulk and pharmaceutical preparations with good results.


Assuntos
Preparações Farmacêuticas/química , Ácido Tranexâmico/análise , Formas de Dosagem , Estrutura Molecular , Ninidrina/química , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Espectrofotometria/métodos , Fatores de Tempo
10.
J Pak Med Assoc ; 55(5): 188-92, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15960282

RESUMO

OBJECTIVE: To determine the pattern of excretion of total bilirubin IXa and IXb in the first meconium of newborn infants. METHODS: First two newborns of varying gestational age were selected every week through random sampling from the neonatal unit. Of the 41 newborn infants selected 8 expired before meconium passage, hence the results are from 33 newborns. Meconium was collected and stored at -20 degrees C, protected by aluminium foil. Samples were defrosted, vortex mixed with equal amount of dimethyl-sulfoxide, centrifuged, and analyzed by HPLC. RESULTS: Unconjugated Bilirubin-IXalpha and -IXbeta were identified and quantitative estimation of Bilirubin-IXa done. Bilirubin-IXb was greater than 50% of the total, in the first meconium of the newborn. Amount of bilirubin excreted in meconium was 29.2 - 90.8 mg [0.051 - 0.155 mmol] per sample of meconium passed. Amount was 9.7 mg/ Kg of body weight in term newborn and 12 mg/kg in preterm. CONCLUSION: The amount of bilirubin -IXb decreases and bilirubin-IXa increases with increasing gestational age. Newborns with birth asphyxia (BA) had significantly greater quantity of bilirubin in meconium, compared to infants without BA.


Assuntos
Pigmentos Biliares/análise , Bilirrubina/metabolismo , Fezes/química , Recém-Nascido/metabolismo , Mecônio/metabolismo , Ácidos e Sais Biliares , Bilirrubina/análise , Biomarcadores , Cromatografia Líquida de Alta Pressão , Idade Gestacional , Humanos , Recém-Nascido Prematuro/metabolismo , Mecônio/química
11.
J Ayub Med Coll Abbottabad ; 14(3): 27-8, 2002 Jul-Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12476861

RESUMO

Bochdalek hernia is a rare condition that usually presents in the neonatal age. Rarely it presents late and is usually misdiagnosed. We came across a Bochdalek hernia, which presented at the age of 15 years and was initially misdiagnosed as pulmonary tuberculosis. The case history, diagnosis and management of this condition along with literature review are presented here.


Assuntos
Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/cirurgia , Obstrução Intestinal/diagnóstico , Tuberculose Pulmonar/diagnóstico , Adolescente , Fatores Etários , Diagnóstico Diferencial , Seguimentos , Humanos , Masculino , Paquistão , Radiografia Torácica , Medição de Risco , Resultado do Tratamento
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