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Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders

Abstract

Background

Pakistan faces high incidence of congenital anomalies (CA) and hereditary anomalies due to various factors, including a high rate of consanguinity, early marriages, and predominance of extended families. There is a paucity of epidemiological studies that could provide a baseline for management strategies for these anomalies.

Objectives

We aimed to elucidate the pattern, as well as the clinical and genetic aspects, of CA prevalence among the general population in Sialkot District of Pakistan.

Methods

In a cross-sectional sampling design, subjects and families with a certain type of CA were recruited from hospitals and medical centers in Sialkot District. Subjects were also selected from various towns and remote villages by visiting public places. Phenotypic and descriptive data were obtained, pedigrees were constructed, and parental and demographic attributes were recorded.

Results

A total of 241 independent subjects and/or families with CA were recruited. The malformations were classified into five major and 56 minor categories. Limb defects had the highest representation (n = 113; proportion = 0.469; 95% confidence interval (CI) = 0.406–0.532), followed by neurological anomalies (n = 76; proportion = 0.315; 95% CI = 0.257–0.374). Among the limb defects, polydactyly and talipes were most prevalent while, among neurological disorders, intellectual disability and cerebral palsy were more frequent. In this cohort, sporadic occurrence was customary compared to the familial presentation (n = 144 vs 97). Analyses of various attributes, such as gender differences, parental consanguinity, and paternal ages, as well as pedigree analyses, revealed marked heterogeneity among the major and minor categories of CA.

Conclusion

The pattern of anomalies witnessed in this cohort and a high occurrence of sporadic cases point to a substantial role of nongenetic etiological factors, which could be minimized by strengthening the health-care system.

Open access
Incretin levels in patients with hypothyroidism and the evaluation of incretin levels alterations with treatment

Abstract

Background

Incretin hormones may influence the effects of thyroid hormones on insulin secretion, insulin resistance, and glucose metabolism. Thyroid hormones regulate insulin secretion, and the risk of diabetes was found to be associated with thyroid hormones.

Objectives

To determine whether incretin hormones influence the effects of thyroid hormones on insulin resistance and glucose metabolism.

Methods

A total of 26 patients were included in 2 groups consisting of 13 patients with hypothyroidism and 13 healthy controls. Levels of glucose, insulin, glucagon-like peptide 1 (GLP-1), and gastric inhibitory polypeptide (GIP) levels were measured in 0, 30, 60, 90, and 120th min during the oral glucose tolerance test in the control group and before and after thyroxine treatment in the hypothyroid group.

Results

In the hypothyroid group, waist circumference decreased after the euthyroid state was achieved (P = 0.026). No statistically significant differences were detected in the GLP-1 and GIP levels at baseline and 30, 60, 90, and 120 min between the hypothyroidism and control groups or after ensuring the euthyroid state in patients with hypothyroidism. Peak GLP-1 levels were observed at 30 min in the control group, whereas peak GLP-1 and GIP levels were detected at 90 min in the hypothyroidism group. After achieving the euthyroid state, peak GLP-1 and GIP levels were detected at 30 min as well.

Conclusion

In patients with hypothyroidism, the incretin hormones, especially the peak response of the incretin system, are significantly affected. Significant changes were observed in the incretin system by correcting hypothyroidism.

Open access
Pathways to parental anxiety: effect of coping strategies for disruptive behaviors in children with attention deficit-hyperactivity disorder

Abstract

Background

Disruptive behaviors are commonly found in children with attention deficit-hyperactivity disorder (ADHD) and affect the mental health of parents. However, a study of the direct and indirect effects between disruptive behaviors in children with ADHD and parental anxiety and coping strategies is apparently lacking.

Objective

To examine the direct and indirect relationship between disruptive behaviors in children with ADHD and parental anxiety and coping strategies as a mediator.

Method

A cross-sectional study was conducted at King Chulalongkorn Memorial Hospital, Thailand between March 2015 and January 2016. Participants comprised 200 parents whose children were diagnosed with ADHD by physicians. Participants completed questionnaires regarding sociodemographic characteristics including The Thai Hospital Anxiety and Depression Scale, The Swanson, Nolan and Pelham (SNAP-IV): parent form (Thai version), and The Coping Scale Questionnaire (Thai version).

Results

The direct path between disruptive behaviors and anxiety was significant (b = 0.21, P = 0.002). Moreover, a significant indirect path was found between disruptive behaviors and coping behavior with escape–avoidance (β = 0.20, P = 0.005), and an indirect path was found between escape–avoidance and anxiety (b = 0.31, P <0.001).

Conclusions

Health care professionals should evaluate the use of coping strategies by parents of children with ADHD and encourage the parents to use a positive strategy for coping with the disruptive behaviors of their children.

Open access
Patient and injury characteristics associated with road traffic mortality in general hospitals in southern Thailand

Abstract

Background

Road traffic injuries are a major public health burden in developing countries. Thailand has the highest fatality rate from road traffic injuries in southeast Asia so that prevention of unintentional injuries is important.

Objective

To identify patient and injury characteristics associated with road traffic mortality in the southern provinces of Thailand.

Methods

Data on a total of 78,862 road traffic injuries recorded by the general hospitals in 5 southern provinces of Thailand, during 2008–2013, were obtained from the Office of Disease Prevention and Control. Chi-squared test was used to determine the association between patient/injury characteristics and road traffic mortality, and logistic regression was used to identify the strength of associations.

Results

In this study, road traffic mortality was found to be 1.8% of all injuries. Most of the deaths occurred in males (61.7%), who were aged 25–44 years (35.8%), being drivers (68.6%), using motorcycle (78.4%), and not wearing a helmet (61.0%). Road traffic mortality was higher among males, older age people, those who were not wearing a helmet or not fastening a seat belt, pedestrians and when people crashed with or by motor car, with wound being penetrating or blunt with penetrating, and when they were having head or neck, chest, or abdominal or pelvic cavity injuries.

Conclusion

Policies and measures for reducing road traffic mortality should focus on males and older aged persons, use of safety devices, and occurrence of multiple injuries.

Open access
A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

Abstract

Background

Macrodactyly is a rare congenital deformity characterized by gigantism of all structures of the digits. Previous reports showed that the mosaic PIK3CA variants were associated with overgrowth syndromes including macrodactyly.

Objectives

To determine the genetic alteration in a Thai patient with enlarged soft tissue of the left middle and left fourth fingers with abnormal enlarged phalanges.

Method

A nerve and a skin piece were separated from a therapeutically surgically removed part of the enlarged digit. Skin fibroblasts were cultured from the removed skin piece. DNA was isolated from the nerve tissue, cultured skin fibroblasts, and peripheral blood leukocytes. Polymerase chain reaction (PCR) followed by Sanger sequencing of PIK3CA was performed.

Results

Mutation analysis revealed the c.3140A>T (p.(H1047L)) variant of PIK3CA in the nerve tissue and the cultured dermal fibroblasts but not in leukocytes from the peripheral blood.

Conclusion

The somatic c.3140A>T (p.(H1047L)) variant of PIK3CA was found in a Thai patient with isolated macrodactyly, the same as those previously identified in other populations.

Open access
Survival outcomes of low-risk and intermediate-risk stage IB1 cervical cancer patients

Abstract

Background

Survival for patients with early stage cervical cancer without any high-risk factors treated with radical hysterectomy is excellent. However, there are few data on the survival outcomes for low-risk and intermediate-risk early stage cervical cancer patients.

Objective

To determine survival outcomes and prognostic factors of low-risk and intermediate-risk stage IB1 cervical cancer patients.

Methods

Stage IB1 cervical cancer patients with radical hysterectomy and pelvic lymphadenectomy were retrospectively reviewed. Patients with positive pelvic nodes, parametrial involvement, and positive margin who are classified as high-risk patients were excluded. Patients with squamous cell carcinoma or grade 1–2 adenocarcinoma, tumor size less than 2 cm, no lymphovascular space invasion (LVSI), and depth of stromal invasion (DSI) less than 10 mm were defined as low-risk patients. Survival was evaluated using the Kaplan–Meier method and compared by the log-rank test. Multivariate analysis was performed using Cox proportional-hazards regression.

Results

There were 82 (42.3%) low-risk patients and 112 (57.7%) intermediate-risk patients. More patients in intermediate risk received adjuvant treatment (3.6% and 14.3%, P = 0.07). Three (3.6%) low-risk patients and 18 (16.1%) intermediate-risk patients had recurrent disease (P = 0.004). At median follow-up of 86 months, 1.2% of low-risk patients and 8.9% of intermediate-risk had cancer-related deaths (P = 0.02). Low-risk patients had significantly better 5-year disease-free survival (98.2% vs 91.1%, P = 0.01) and estimated 5-year overall survival (98.5% vs 91.1%, P = 0.01). DSI more than 10 mm and presence of LVSI were significantly associated with recurrence. However, LVSI was an independent prognostic factor.

Conclusion

Stage IB1 cervical cancer patients had excellent survival. Low-risk patients had significantly better survival. Presence of LVSI was an independent prognostic factor.

Open access
Time to blood cultures positivity of microorganisms using a continuous-monitoring automated blood cultures system

Abstract

Background

Previous studies showed that clinically significant pathogens were detected within 3 days of incubation using a continuous monitoring automated blood culture instrument.

Objectives

To determine time to blood culture positivity (TTP) of microorganisms using a BD BACTEC™ FX.

Methods

A cross-sectional study was conducted at Maharaj Nakorn Chiang Mai Hospital, Thailand from October to November 2014.

Results

One-hundred and eighty-one patients with 195 episodes of infection and 436 cultures were included in the analysis. Among 181 patients, 55.2% were male and the median age was 61 years (interquartile range (IQR) 50, 76). Of the 195 episodes of infections, the most common source was genitourinary tract (15.4%). Overall, the median TTP was 17 hours (IQR 11.5, 24.5), the shortest TTP was observed in Streptococcus agalactiae. Four-hundred and seventy-eight cultures (97.6%) and all (100%) were detected at 3 days and 5 days of incubation. Factors associated with TTP ≤24 hour were blood drawn from patients who had hematologic malignancy (odds ratio (OR) 9.6, 95% confidence interval (CI) 1.2, 74.3, P = 0.030), endocarditis and vascular infection (OR 8.7, 95% CI 1.1, 67.2, P = 0.038), thrombocytopenia (OR 2.4, 95% CI 1.3, 4.4, P = 0.004), clinical of systemic inflammatory response syndrome (SIRS) (OR 2.3, 95% CI 1.2, 4.5, P = 0.014), and not receiving antimicrobials within 72 hours before cultures taken (OR 2.2, 95% CI 1.4, 3.6, P < 0.001).

Conclusions

TTP varied depends upon the pathogens and clinical settings. However, bacteria were isolated from almost, but not all of the blood cultures within 3 days of incubation.

Open access
Carotid Atherosclerotic Disease and Risk Factors in Patients with Ischemic Stroke – Study Report –

Abstract

Ischemic stroke (IS) is the second frequent vascular disease after myocardial infarction, with different clinical and etiological aspects and various risk factors. Large vessel atherosclerotic disease is the most frequent IS causing pathology, followed by cerebral microangiopathy and cardioembolic events. Cervical arteries Doppler ultrasonography helps identifying the subtype of IS, and by revealing the vascular status of the patient, guides the therapeutic decision and secondary IS prevention. The aim of this paper is to present the results of an observational, retrospective, analytical study on a number of 174 patients with acute IS evaluated by Doppler carotid ultrasound in CVASIC Research Centre of Academic Emergency Hospital of Sibiu from January to December 2018. Materials and methods: All patients with IS admitted in our centre received a Doppler carotid ultrasound evaluation. We observed the degree of carotid stenosis, presence of atherosclerotic risk factors and their influence. Results: The mean age of patients was 71.3 years (36 to 92 years range). 16 (9.19%) patients presented occlusion of internal carotid artery (ICA) on the same side as stroke, 37 (21.26%) had severe carotid stenosis (>70%), 31 (17.81%) presented moderate stenosis (50-70%), the remaining patients had mild or no stenosis. 129 (74,13%) patients presented arterial hypertension, 51 (29.31%) patients had diabetes mellitus, 14 (8.04%) were smokers, 81 (46.56%) had dyslipidemia. Conclusions: A large number of patients had severe carotid stenosis and occlusion. The most common risk factor was arterial hypertension, followed by dyslipidemia and diabetes mellitus. Continuous medical education of population at risk regarding good nutrition principles and healthy lifestyle are needed to reduce the social costs of ischemic stroke.

Open access
Clinical and Epidemiological Study on Patients with Mandibular Fractures within the Oral and Maxillofacial Surgery Compartment in the Sibiu County Clinical Emergency Hospital between 2013-2018

Abstract

Traumatology from the oral and maxillofacial area represents a very important and frequent pathology within this specialty, the mandibular fractures occupying the first place in terms of location and frequency due to the anatomical prominent position of the mandible. The first three etiological factors are represented by aggressions, accidental falls and car accidents. This article, accomplished in collaboration with the statistical service of the Sibiu County Clinical Emergency Hospital, aims at analysing the distribution by sex, origin environments, levels of studies, presentation of patients, analysis which was broken down by days of the week, frequent symptoms of these types of pathologies, for a period of 5 years, between 2013-2018.

Open access