Beta[2]-adrenergic receptor gene polymorphisms in normal and in patients with myocardial infarction in the eastern province of Saudi Arabia

Introduction: Single nucleotide polymorphisms [SNPs] of the beta[2]-adrenergic receptor [beta[2]-AR] gene have been implicated in the pathogenesis of cardiovascular diseases. This study evaluated two beta[2]-AR SNPs in association with myocardial infarction [MI], namely arginine-glycine [G16R] substitution at codon 16 and glutamine-glutamic [Q27E] substitution at condon 27

Objectives: Therefore, our main objective was to determine the association of these two SNPs among patients with MI with and without type 2 diabetes [T2D]

Materials and Methods: Blood samples were collected from 201 MI patients with and without diabetes and from 115 controls and the beta[2]-AR gene polymorphisms at codon 16 and codon 27 were assessed by restriction fragment length polymorphism. The CHI[2] test was used to compare differences between groups

Results: The SNPs did not deviate significantly from Hardy-Weinberg equilibrium in the control population. The allele and genotype frequencies of the beta[2]-AR gene polymorphism at codon 16 [G16R] was significantly different between MI cases and controls [CHI[2] = 10.495, P < 0.05 and CHI[2] = 8.849, P < 0.05, respectively]. No significant difference in genotype and allele frequencies at codon 27 was shown between these two groups [CHI[2] = 2.661, P >/= 0.05 and CHI[2] = 1.587, P >/= 0.05, respectively]. When the MI patients with and without T2D were pooled together, genotype distribution was different between cases and controls at codon 16 [CHI[2] = 4.631, P = 0.099] and codon 27 [CHI[2] = 7.247, P = 0.027]. However, no significant differences were found in allele frequencies for codon 16 and codon 27 between the two groups [CHI[2] = 0.628, P = 0.428; CHI[2] = 0.33, P = 0.565, respectively]

Conclusion: Our findings indicate a moderate association of the beta[2]-AR G16R gene polymorphism with MI suggesting that this gene plays a universal role in the development of MI across ethnicities. However, there was no association of beta[2]-AR G16R gene polymorphism with diabetic patients with MI

Can the duration of vomiting predict postoperative outcomes in hypertrophic pyloric stenosis?

Hypertrophic pyloric stenosis [HPS] is a common cause of gastric outlet obstruction [GOO] in infants. Prolonged GOO is believed to result in acid and electrolyte disturbances, gastric atony, and delayed postoperative recovery. We studied the impact of prolonged vomiting as an indicator of GOO symptoms on the post-operative outcomes in HPS. A retrospective chart review of all patients who underwent pyloromyotomy at a tertiary care center between February 1997 and February 2009. The duration of pre-operative vomiting was correlated with presenting electrolytes and acid-base balances, postoperative time to full feed, postoperative morbidity and duration of hospitalization. Forty-seven patients were identified. At presentation, the median [range] for duration of symptoms was 14 [3-60] days, and surgeries were performed at 2 [0-6] days after admission. Apart from one case of postoperative wound infection, all patients had an unremarkable recovery. The unusually prolonged duration of vomiting in our cohort did not correlate with the mean [SD] preoperative chloride level of 93.9 [8.8] mEq/L, mean [SD] pH level of 7.5 [0.9], mean postoperative time to full feeding of 31 [15.1] hours, or mean duration of hospitalization of 5.1 [2.2] days. Duration of vomiting in HPS at presentation does not seem to have a significant impact on the postoperative outcomes

Pattern of major congenital anomalies

Currently, in the Arabian Peninsula, genetically determined disorders account for an increasing proportion of death, morbidity, chronic handicap, and disability. To study the pattern and classification of MCAs in Asir region, during six-year period, in order to allow proper genetic counseling, early management and rehabilitation. The study included all neonates with congenital anomalies referred to Asir Central Hospital from 1997 to 2002. Cases with genetic syndromes were diagnosed by review of Mandelian inheritance in man and the London dysmorphology database. The major congenital anomalies were classified according to the ICD-10 system, and multiple MCAs were counted only once by the system of the most major anomaly. Of 1171 newborns admitted to neonatal intensive care unit [NICU] at Asir Central Hospital, 691 newborns were proved to have congenital anomalies, constituting 59.1% of all admissions. According to ICD-10 classification of congenital anomalies, the systems involved in the MCAs investigated were [in descending order of frequency] as follows: digestive 28.6%, central nervous 26.1%, circulatory 16.5%, urogenital 7.1%, face and neck 4.1%, respiratory 6.2%, musculoskeletal 3.6%, chromosomal 3.3%, and other anomalies 4.5%. Congenital anomalies represent the main reason for referral to NICU in Asir region, and this implies that congenital malformations constitute significantly to perinatal and infant morbidity in the region. Premarital counseling should be advised, especially in the presence of parental consanguinity and family history of a congenitally malformed child

Comparative study of different inhaler devices in asthmatic children

The inhaler is an important drug delivery system in the treatment of asthma, but inhaler technique is often inadequate. We assessed technique in children diagnosed with asthma, comparing the performance of three devices. Patients and In a cross-sectional survey, 523 children [271 boys, 252 girls, ages 5 to 12 years; mean SD 7.53 1.79 years] demonstrated inhalation technique according to Netherlands Asthma Foundation criteria during a first visit to a primary care clinic in Abha, Saudi Arabia. Patients used the device with which they were most familiar [either pMDI, Turbuhaler or Diskus]. Two hundred children [38% of total population] used a pMDI, while 323 [62% of total population] used one of the dry powder inhalers

Assessment of inhalation technique in children with asthma, Abha, Saudi Arabia

The inhalation technique of asthma in children was assessed using the criteria defined by the standardized inhaler checklist of the Netherlands Asthma Foundation and Dutch asthma foundation. Four hundred and thirty seven newly referred patients to chest clinic, department of pediatric, Assir Central Hospital, Southwestern Saudi Arabia were instructed to demonstrate their inhalation technique and to fill out a questionnaire related to the inhalation instructions received before their referral. Four hundred and thirty seven patients newly referred for evaluation of their asthma 5-12 years of age with mean age of 7.16+1.69 years, 202 [46.2%] girls, 235 [53.8%] boys were included in the study. Two hundred two [46.2%] patients use MDI. The remaining [53.8%] patients use the DPI, 123 [52.35%] of them use turbohalers white 112 [47.65%] use diskhalers. Only 36 patients [8.2%] completed the assessment without making any mistake. Of the remainders, 399 [91.8%] made one or more mistakes. Of the MDI users, eleven patients [5.4%] performed correctly all the steps, and 54 [26.7%] performed correctly four or more steps. Ten [8.9%] of the diskhaler users performed all the steps correctly and forty nine [43.8] performed correctly four or more steps. Fifteen [12.2%] of the turbohaler users performed correctly all the steps and ninety five [77.2%] performed correctly four or more steps. One hundred five of the male patients [44.7%], performed correctly more than three steps as compared to 93 of the female patients [46.5] with p value=0.704. One hundred and one patients [67.3%] between the age of 8-12 years performed more than three steps correctly as compared to 97 [33.8%] of patients aged 5-7 years p=0.001. In conclusion, many asthmatic children use their inhaler devices too poorly with the result of an unreliable drug delivery. Turbohaler device inhalation technique was the easiest, followed by diskhaler then lastly the MDI. Education of asthmatic children and their families is highly needed to make sure the patient perform the correct inhalation technique

Group D salmonella as cause of urinary tract infection

A case of primary urinary tract infection caused by group-d salmonella is presented. Even though it is not the usual pathogen at this site, it proves that under certain circumstances this enteric pathogen can cause urinary tract infection. Other reported cases are also reviewed