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1.
BMC Endocr Disord ; 24(1): 101, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38951832

RESUMO

BACKGROUND: The triglyceride-glucose index (TyG index) is a simple surrogate marker for Insulin Resistance (IR). However, the relationship between the TyG index and Metabolic Syndrome (MetS) remains unknown in the Northern Sri Lankan population. METHODS: This was a descriptive, cross-sectional study of adults aged between 18 and 65 years living in Jaffna, Sri Lanka. This study aimed to verify the discriminative ability of the TyG index to identify MetS using the International Diabetes Federation (IDF-2006) criteria and to determine the gender-specific TyG index cut-off values for better prediction of MetS in Northern Sri Lankan adults. TyG index was calculated as Ln[Triglycerides (TG) (mg/dl) × Fasting plasma glucose (FPG) (mg/dl)/2]. RESULTS: A total of 540 individuals were included in this study, with a mean age of 42.18 (± 13.89) years for males and 43.80 (± 12.56) years for females. The mean value of the TyG index in the total study population was 8.54 (± 0.53). Individuals in the higher quartiles of the TyG index had a significantly increased risk of MetS compared with those in the lowest quartile (p < 0.01). TyG index showed a stronger association with MetS than the FPG and all the conventional lipid components and the unadjusted odds ratio was 5.47. The area under the curve (AUC) of ROC revealed values of 0.914 (95% confidence interval (CI): 0.884, 0.944) for females, 0.881 (95% CI: 0.830, 0.932) for males and 0.897 (95% CI: 0.870, 0.924) for the total study population. TyG index had a stronger discriminative ability to identify MetS as per IDF criteria in the study population with a cut-off value of 8.60. The mean level of the TyG index significantly increased with the increasing number of MetS components. CONCLUSIONS: The mean value of the TyG index increased as the number of MetS components in the study population increased. Individuals with a higher TyG index had a significantly increased risk of having MetS compared with the lowest quartile of the TyG index. TyG index had a good discriminative ability to diagnose MetS as per IDF criteria among the northern Sri Lankan population.


Assuntos
Glicemia , Síndrome Metabólica , Triglicerídeos , Humanos , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/sangue , Síndrome Metabólica/epidemiologia , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Sri Lanka/epidemiologia , Estudos Transversais , Triglicerídeos/sangue , Glicemia/análise , Biomarcadores/sangue , Adulto Jovem , Adolescente , Idoso , Resistência à Insulina , Prognóstico
2.
Cureus ; 15(3): e35970, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37041896

RESUMO

INTRODUCTION: The global prevalence of autism spectrum disorder is rising. However, the services related to autism are only slowly being developed in poor-resource nations. There is a need to understand the characteristics of autistic children in order to develop individualized, evidence-based interventions. This study aims to analyze the sociodemographic profile and initial clinical presentations of autistic children in the northern part of Sri Lanka and determine the differences in these factors between this region and the rest of the country and the globe. METHODS: This retrospective descriptive study in a center for neuro-developmental disorders in Northern Sri Lanka analyzed data extracted from clinical records of 123 autistic children using a predesigned data extraction form. Descriptive analyses and chi-square tests were performed using RStudio. RESULTS: Among the 123 children, 71.5% were males. The mean age of diagnosis was 3.4 years. Most children (69.9%) had mild to moderate symptoms of autism. At the time of presentation, all children had speech-related complaints, while behavioral issues, poor social interaction, and sensory issues were reported in 91.9%, 96.7%, and 78% respectively. Social stigma was found to be the prime challenge faced by caregivers. CONCLUSION: The findings show that speech and language-related problems are universal among autistic children in this region, while behavioral issues, poor social interaction, and sensory issues are highly prevalent. Further, this study highlights the need for community awareness through the primary healthcare system to address delays in detecting red-flag signs of autism by parents and seeking professional help.

3.
BMC Med Genet ; 19(1): 85, 2018 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-29801475

RESUMO

BACKGROUND: Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. As the disease advances, patients may develop progressive bone marrow failure, pulmonary fibrosis, oesophageal stenosis, urethral stenosis, liver cirrhosis as well as haematological and solid malignancies. Several genes have been implicated in the pathogenesis of dyskeratosis congenita, with the dyskerin pseudouridine synthase 1 (DKC1) gene mutations being the X-linked recessive gene. CASE PRESENTATION: Herein, we report a 31-year-old male with history of recurrent febrile episodes who was found to have reticulate skin pigmentation interspersed with hypopigmented macules involving the face, neck and extremities, hyperkeratosis of palms and soles, nail dystrophy, leukoplakia of the tongue, premature graying of hair, watery eyes and dental caries. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of disease condition. Pedigree analysis suggested a possible X-linked pattern of inheritance. Genetic testing in the proband showed a novel hemizygous, non-synonymous likely pathogenic variant [NM_001363.4: c.1054A > G: p.Thr352Ala] in the PUA domain of the DKC1 gene. Quantitative polymerase chain reaction for relative telomere length measurements performed in the proband showed that he had very short telomeres [0.38, compared to a control median of 0.71 (range 0.44-1.19)], which is consistent with the DC diagnosis. Co-segregation analysis of the novel mutation and telomere length measurements in the extended family members could not be performed as they were unwilling to provide consent for testing. CONCLUSIONS: The novel variant detected in the DKC1 gene adds further to the existing scientific literature on the genotype-phenotype correlation of DC, and has important implications for the clinical and molecular characterization of the disease.


Assuntos
Proteínas de Ciclo Celular/genética , Disceratose Congênita/genética , Hemizigoto , Proteínas Nucleares/genética , Mutação Puntual , Adulto , Proteínas de Ciclo Celular/química , Humanos , Masculino , Proteínas Nucleares/química , Linhagem , Domínios Proteicos , Análise de Sequência de DNA , Homeostase do Telômero
4.
BMC Infect Dis ; 16(1): 741, 2016 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-27931200

RESUMO

BACKGROUND: Amoebic liver abscess is the most common extra intestinal manifestation of amoebiasis in tropical countries. It usually presents with right hypochondrial pain, fever and anorexia. Amoebic liver abscess has gained clinical significance due to the wide variety of clinical presentations which can cause diagnostic dilemmas and high mortality in untreated cases. CASE PRESENTATION: We report a case of a 63-year-old male with a history of anorexia for 3 weeks, fever for 4 days and examination findings of tender hepatomegaly with a liver span of 15 cm in the mid clavicular line and a firm irregular mass in the right iliac fossa. Ultrasound scan of the abdomen showed two large liver abscesses with one of them leaking into the peritoneal cavity causing a localized pus collection, which had been walled off in the right iliac fossa. He was treated with metronidazole and liver abscesses were drained percutaneously under ultrasound scan guidance. The diagnosis of Entamoeba histolytica infection was confirmed with the serology and subsequently by PCR from the aspirated material. He made an uneventful recovery with resolution of the symptoms and right iliac fossa mass. CONCLUSION: Recognition of variable presentation of amoebic liver abscess is vital, considering the curable nature of this disease and potentially fatal outcome of untreated abscess. An intra-abdominal mass in a patient with amoebic liver abscess should raise the suspicion of a localized collection of pus and impending generalized peritonitis. Early diagnosis and prompt intervention can prevent the dreaded complication of peritonitis and toxemia, and hence reduce the consequent morbidity and mortality.


Assuntos
Entamebíase/diagnóstico , Abscesso Hepático Amebiano/diagnóstico , Abdome/diagnóstico por imagem , Drenagem , Entamoeba histolytica/patogenicidade , Entamebíase/tratamento farmacológico , Febre/tratamento farmacológico , Humanos , Abscesso Hepático Amebiano/tratamento farmacológico , Abscesso Hepático Amebiano/patologia , Masculino , Metronidazol/uso terapêutico , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Ultrassonografia
5.
J Pharmacol Pharmacother ; 6(4): 231-2, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26816478

RESUMO

Pleural effusion caused by drug is an uncommon event in clinical practice. Etoricoxib induced pleural effusion is an extremely rare. We describe a patient with pleural effusion as an adverse drug reaction of etoricoxib.

6.
Trop Doct ; 45(2): 151-2, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25515735

RESUMO

Typhoid fever can cause a number of renal manifestations heretofore dubbed 'nephrotyphoid'. Haematuria in the absence of renal impairment is extremely rare among typhoid patients. We report a case of an adult who presented with a prolonged febrile illness and microscopic haematuria. Blood culture confirmed the diagnosis of typhoid and the patient was treated successfully with ceftriaxone.


Assuntos
Salmonella typhi/isolamento & purificação , Febre Tifoide/diagnóstico , Adulto , Diagnóstico Diferencial , Hematúria/etiologia , Humanos , Masculino , Febre Tifoide/complicações
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