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1.
Chemphyschem ; 21(9): 888-894, 2020 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-32039549

RESUMO

Although the conformation of the polymer chain of Ubiquitin (Ub) mainly depends on the type of isopeptide linkage connecting two Ub molecules, the non-covalent (noncovalent) interaction between two Ub molecules within the chain could also tune their conformational preference. Here, we studied the conformation of noncovalently formed Ub dimers in solution using residual dipolar couplings (RDCs). Comparing the RDC derived alignment tensor of the noncovalently formed dimer with the two most abundant (K11 and K48) covalent linked Ub dimers revealed that the conformation of K11 linked and noncovalent Ub dimers were similar. Between the various NMR and crystal structures of K11 linked Ub dimers, RDC tensor analysis showed that the structure of K11 linked dimer crystalized at neutral pH is similar to noncovalent dimer. Analogous to the experimental study, the comparison of predicted order matrix of various covalent Ub dimers with that of the experimentally determined order matrix of noncovalent Ub dimer also suggests that the conformation of K11 linked dimers crystalized at neutral pH is similar to the noncovalent dimer.


Assuntos
Ubiquitina/química , Ubiquitinas/química , Dimerização , Concentração de Íons de Hidrogênio , Ligação Proteica , Conformação Proteica
2.
Genet Couns ; 27(4): 449-460, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-30226963

RESUMO

We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in families with a dystrophinopathy. Fifty three Indian families with provisional diagnosis of Duchene muscular dystrophy or Becker muscular dystrophy were evaluated by MLPA and multiplex polymerase chain reaction (PCR). Sanger sequencing was used to analyze the entire gene in one patient. Mothers were tested for carrier status whenever possible. Molecular analysis of DMD gene by combining MLPA and multiplex PCR yielded a mutation detection rate of 62% (33/53). Deletions were detected in 27/53 (51%) cases, duplications in 5/53 (9%) cases, a small deletion one case and Sanger sequencing detected a nonsense mutation in one case. Mutation was not detected in 36% (19/53) cases. Fifty six percent of mothers (9/16) were found to be carriers. MLPA helped to refine the results of multiplex PCR testing in 22 patients (5 duplications, 16 deletions and one small deletion). We also describe a situation where a deletion of single exon on MLPA (but not detected by multiplex PCR) was actually due to a deletion of two nucleotides in the probe ligation site. MLPA appears to score over multiplex PCR in diagnosis and carrier detection, specifically by detecting deletions and duplications that are not detected by traditional multiplex PCR.


Assuntos
Triagem de Portadores Genéticos/métodos , Reação em Cadeia da Polimerase Multiplex/métodos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Adolescente , Adulto , Criança , Pré-Escolar , Análise Mutacional de DNA , Distrofina/genética , Éxons/genética , Feminino , Humanos , Índia , Masculino , Exame Neurológico , Adulto Jovem
3.
East Mediterr Health J ; 14(3): 571-8, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18720621

RESUMO

To elucidate the bacterial etiology of childhood diarrhoea in Dhahira, 856 children < 12 years admitted for diarrhoea to Ibri Regional Referral Hospital from 2000 to 2002 were studied. The mean age was 2.4 (SD 2.3) years; the majority (92.9%) were < 5 years. Bacterial etiology was found in 15.2% of cases; 10.6% due to Shigella and 2.1% to Salmonella. Sh. sonnei was the commonest Shigella serogroup isolated. Salmonella infection was significantly associated with cramps, while Shigella infection was associated with fever, bloody stools and cramps. Antibiotics were prescribed in 36.2% of cases and the resistance to the common antibiotics tested was low.


Assuntos
Diarreia/epidemiologia , Diarreia/microbiologia , Pacientes Internados/estatística & dados numéricos , Doença Aguda , Distribuição por Idade , Antibacterianos/uso terapêutico , Criança , Pré-Escolar , Desidratação/microbiologia , Diarreia/tratamento farmacológico , Farmacorresistência Bacteriana , Disenteria Bacilar/complicações , Disenteria Bacilar/microbiologia , Escherichia coli Enteropatogênica , Infecções por Escherichia coli , Fezes/microbiologia , Feminino , Febre/microbiologia , Hemorragia Gastrointestinal/microbiologia , Humanos , Incidência , Masculino , Cãibra Muscular/microbiologia , Omã/epidemiologia , Vigilância da População , Prevalência , Estudos Prospectivos , Análise de Regressão , Fatores de Risco , Infecções por Salmonella/complicações , Infecções por Salmonella/microbiologia
4.
Int J Soc Psychiatry ; 41(4): 292-8, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-8815053

RESUMO

Frequent associations have been found between family interaction and anorectic behaviour. Family theorists have viewed anorexia as a manifestation of a dysfunctional family system. We report three families of cases of anorexia (one male and two female) where the symptom was a reflection of family pathology and was being maintained by it. The cases emphasize the need to assess families of anorectics in detail and view them in the cultural context of eating.


Assuntos
Anorexia/etiologia , Cultura , Família/psicologia , Adolescente , Anorexia/diagnóstico , Anorexia/epidemiologia , Feminino , Humanos , Índia/epidemiologia , Masculino , Escalas de Graduação Psiquiátrica
7.
Indian J Psychiatry ; 38(4): 201-7, 1996 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21584131

RESUMO

The present paper reports the findings of a study of scholastic backwardness among five to eight year old school going children. 1535 children were screened by their class teachers, of which 10.23% were found to have scholastic backwardness. No gender differences were noticed. The rates of specific difficulties such as reading, writing and arithmetic were found to be 4.69%, 5.15% and 15.96% respectively. About 26% of the scholastically backward children were also found to have psychological disturbance. In addition, they most often came from families which could not afford basic amenities, had fathers with alcohol dependence, inconsistent disciplining and poor parental interaction. They also had more frequent school changes, tution attendence and fewer hobbies compared to the scholastically superior children.

8.
Soc Psychiatry Psychiatr Epidemiol ; 33(2): 66-73, 1998 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9503989

RESUMO

This paper presents findings on the prevalence of psychological disturbance among a sample of 5- to 8-year-old Indian school children. The study was cross-sectional with a two-instrument, two-phase design. In the first phase (screening), 48 teachers rated 1535 children (810 boys and 725 girls) drawn from five schools in Bangalore city on the 26-item Children's Behaviour Questionnaire (CBQ). This resulted in 281 children being identified as disturbed, giving a prevalence of 18.3%. In the second phase, 279 of the children identified as disturbed on the CBQ and a matched group of 272 'non-disturbed children' (182 boys and 90 girls) were again rated by teachers, this time using the Child Behaviour Checklist--Teacher Report Form, yielding a corrected prevalence rate of 19.8%. In the same phase, 166 of the disturbed children and a matched group of 169 non-disturbed children were rated by parents using the Child Behaviour Checklist, yielding a corrected prevalence rate of 31.7%. A larger proportion of boys than girls were identified as disturbed by teachers, whereas parents identified a large proportion of disturbed girls. Boys were found to manifest externalizing problems more often, while girls more frequently showed internalizing problems. Learning problems were identified in a substantial number of disturbed boys and girls.


Assuntos
Transtornos Mentais/epidemiologia , Criança , Transtornos do Comportamento Infantil/epidemiologia , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Masculino , Variações Dependentes do Observador , Prevalência , Distribuição por Sexo
12.
(East. Mediterr. health j).
em Inglês | WHOLIS | ID: who-117468

RESUMO

To elucidate the bacterial etiology of childhood diarrhoea in Dhahira, 856 children < 12 years admitted for diarrhoea to Ibri Regional Referral Hospital from 2000 to 2002 were studied. The mean age was 2.4 [SD 2.3] years; the majority [92.9%] were < 5 years. Bacterial etiology was found in 15.2% of cases; 10.6% due to Shigella and 2.1% to Salmonella. Sh. sonnei was the commonest Shigella serogroup isolated. Salmonella infection was significantly associated with cramps, while Shigella infection was associated with fever, bloody stools and cramps. Antibiotics were prescribed in 36.2% of cases and the resistance to the common antibiotics tested was low


Assuntos
Diarreia , Shigella , Salmonella , Doença Aguda , Estudos Prospectivos , Fezes , Desidratação
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