novel clinico-biochemical score for screening of inherited metabolic diseases in children

Objective: to evaluate a novel clinico-biochemical score for screening of inherited metabolic diseases [IMDs] in children in our setup

Study Design: descriptive analytical study

Place and Duration of Study: department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi, from August 2016 to August 2017

Methodology: clinical data, preliminary biochemical investigations, plasma amino acid [PAA] and organic acid profiles [where indicated] of 354 children, aged <1 year to 12 years, referred to the study place for evaluation of suspected inherited metabolic diseases, was collected and evaluated. A clinico-biochemical score card named Rawalpindi Inherited Metabolic Diseases Score [RISc] was devised, on a scale from 1 to 10, incorporating 5 clinical and 5 important biochemical findings, and each variable was assigned a score, based on its relative frequency/risk. Each case was then assigned the RISc score and evaluated for presence or absence of any inherited metabolic disease, based on the score. This score was validated keeping plasma amino acids and organic acid profiles [in selected cases] as reference standard

Results: patients were divided into three groups, based on RISc score as low RISc [0.5-2.5], medium RISc [3.0-5.5] and high RISc [6-10]. A total of 354 cases reported in 2016 and 2017 and 33 [9.3%] were diagnosed to be having IMDs. One [3.0%] patient from low RISc, four [12.1%] from medium RISc, and 28 [84.8%] from high RISc group were found to test positive for any one IMD. High RISc group had a statistically significant higher IMD rate than the other two groups [p<0.001]. Specificity, sensitivity, positive likelihood ratio, negative likelihood ratio, positive predictive value, negative predictive value and accuracy were 93%, 85%, 11.8, 0.16, 55%, 98% and 90%, respectively

Conclusion: the cost effective RISc, based on clinical data and preliminary biochemical investigations, is highly accurate in diagnosing IMDs in cost restrained setups. It is strongly suggested that the initial screening for suspected IMDs and decision for advanced laboratory testing be carried out, based on the RISc card presented in the study

Iron deficiency Anemia: a risk factor for Febrile seizures in children

Objective: To find out the association between iron deficiency anemia and febrile seizures in children

Study Design: Analytical: case-control study

Place and Duration of Study: The study was conducted at Paediatrics department, Pak Emirates Military Hospital Rawalpindi, from May 2013 till Oct 2013

Material and Methods: Two Hundred patients were selected through non probability consecutive sampling, one hundred in each group i.e. patients with febrile seizures and patients without febrile seizures. The blood sample of cases and controls were taken at the time of admission and was sent for assessment of hemoglobin [Hb], serum ferritin level, mean corpuscular hemoglobin concentration [MCHC] and mean corpuscular volume [MCV]. The samples were analyzed for iron deficiency anemia and compared in both groups [patients with febrile seizures and those without febrile seizures]

Results: In the febrile seizures group 58 [58 percent] were anemic with a hemoglobin level less than 10gm/dL and 59 [59 percent] had a low plasma ferritin of less than 10ng/dL. In the control group 39 [39 percent] were anemic with a hemoglobin level less than 10gm/dL and 26 [26 percent] had a plasma ferritin of less than 10ng/dL. The frequency of anemia with low MCV, MCHC and serum ferritin was more in the febrile seizure group 38 percent as compared to 20 percent in controls [p-value = 0.002]

Conclusion: The children with febrile seizures have lower hemoglobin, MCV, MCHC and serum ferritin level as compared to the control groups suggesting that iron deficiency anemia has a positive role in the pathogenesis of febrile seizures

Diagnostic accuracy of serum IGA anti-tissue transglutaminase antibody in the diagnosis of celiac disease

Objective: To determine the diagnostic accuracy of serum IgA anti-tissue transglutaminase antibody in the diagnosis of celiac disease taking histopathology as gold standard

Study Design: Cross-sectional survey

Place and Duration of Study: This study was conducted at the department of Pediatrics, Military Hospital Rawalpindi from April 2015 to July 2016

Patients and Methods: Ninety-five consecutive children presenting with suspicion of celiac disease were included in this study after taking written informed consent. A predesigned proforma was used to record patient's demographic details. Anti-tTG level of >/=25 U/ml was taken as diagnostic of celiac disease while results of histopathology on endoscopic biopsy were taken as gold standard

Results: The mean age of the patients was 6.48 +/- 3.20 years and majority [n=53, 55.8%] of the children were aged between 5 to 10 years. The serum anti-tTG level ranged from 8.0 U/ml to 759.0 U/ml with a mean of 298.75 +/- 225.51 U/ml. Taking a cut-off value of >/=25 U/ml for anti-tTG, 81 [85.3%] children were suspected of celiac disease. Histopathology of endoscopic biopsy confirmed celiac disease in 68 [71.6%] children with 62 true positive, 19 false positive, 6 false negative and 8 true negative cases. It yielded 91.18% sensitivity, 29.63% specificity and 73.68% accuracy for anti-tTG [>/=25 U/ml] in the diagnosis of celiac disease with positive and negative predictive values of 76.54% and 57.14% respectively

Conclusion: IgA anti-tissue transglutaminase antibody [>/=25 U/ml] was found to be highly sensitive test for the detection of celiac disease in children

Early diagnosis of Typhoid by PCR for FliC-d gene of Salmonella Typhi in patients taking antibiotics

To compare PCR [Polymerase Chain Reaction] with blood culture, typhi-dot and Widal test for the diagnosis of typhoid in patients taking antibiotics. Cross-sectional, comparative study. National University of Sciences and Technology, Islamabad, Pakistan, from April 2013 to August 2014. One hundred and five patients were included in the study. Blood was collected and inoculated into tryptone soya broth for culture. Any growth obtained was identified by API 20 E and confirmed by Salmonella anti-sera. Typhi-dot and Widal test were also done on all the samples. DNA extraction was done and PCR was carried out. Among the 105 patients, 79 [75.2%] were males and 26 [24.8%] were females, with mean age of 20.64 +/- 14 years. Typhi-dot was positive in 58 [55.2%] and negative in 47 [44.8%] patients. Blood widal test was positive in 27 [25.7%] and negative in 78 [74.3%] patients. Salmonella Typhi was positive on blood culture in only one [1%] patient. PCR for Salmonella Typhi was positive in 102 [97.1%] and negative in 3 [2.9%] patients. Positive cases detected by PCR were significantly higher as compared to Typhi-dot [p < 0.001], blood Widal test [p < 0.001] and blood culture [p < 0.001]. Positivity rate of PCR was significantly higher as compared to blood culture, Typhi-dot or Widal test for diagnosing typhoid in patients who were already taking antibiotics

Chronic suppurative otitis media; empiric quinolones in children

The aim of the study was to determine the most prevalent organisms in chronic otitis media in children and their susceptibility to various antibimicrobials so that an appropriate empiric antibiotic can be started promptly while awaiting the results of the culture and sensitivity. Prospective observational study. The study was conducted at Combined Military Hospital Lahore from Jan 2006 to Dec 2007. A total of 156 patients less than 15 years of age who were having discharge from one or both ears for at least 1 week with tympanic membrane perforation were included in the study. A sample of the ear discharge was collected on the swab and cultured on appropriate media. The Gram positive organisms were identified on the basis of Gram staining, catalase and coagulase test, the Gram negative organisms were identified by API 20e. A total of 156 patients were included in the study of which 96 [61.5%] were males and 59 [37.8%] were females. The organisms isolated were Staphylococcus aureus in 79 [50.6%], Pseudomonas-aeruginosa in 45 [28.8%] patients and Proteus mirabilis 17 [10.9%], Escherichia coli, Acinetobacter sp and streptococi were isolated in occasional patients. Staphylococcus aureus was the commonest organism isolated followed by Pseudomonas aeruginosa and Proteus mirabilis fifty four. [34.6%] of Staphylococcus aureus were sensitive to gentamicin, fifty two [33.3%] to ciprofloxacin and 42 [26.9%]% to both ciprofloxacin and gentamicin. Among the Pseudomonas aeruginosa isolates 40 [25.6%] were sensitive to gentamicin, 27 [17.3%] to ciprofloxacin and 22 [14.1%] to both ciprofloxacin and gentamicin. Out of 156 patients 91 [58.3%] had isolates which were sensitive to ciprofloxacin and 62 [39.7%] were resistant to it. One hundred fourteen patients [73.1%] had isolates which were sensitive to gentamicin whereas 33 [21.2%] were resistant. Similarly 35 isolates [22.4%] were sensitive to sulphamethoxazole/trimethoprim whereas 66 [42.3%] were resistant. Among Proteus mirabilis isolates 12 were sensitive to gentamicin, 11 were sensitive to ciprofloxacin and 11 were sensitive to both ciprofloxacin and gentamicin. Ciprofloxacin ear drops can be recommended to be given empirically in children with chronic discharging ears. The initial therapy can be modified and appropriate therapy started if the result of the culture and sensitivity report shows the isolate to be resistant to the antibiotic started empirically

Association between periurethral colonization with uropathogens and subsequent bacteriuria in catheterized patients

To determine the number of catheterized patients who develop bacteriuria due to the presence of organisms in their periurethral flora, which may subsequently cause Urinary Tract Infection [UTI] in these patients. Non-interventional, cohort study. This study was conducted on patients of Medical Intensive Care, Surgical and Urology Units of Combined Military Hospital, Lahore, from February to April 2006. A total of 60 hospitalized patients, who were catheterized for various underlying diseases, were included in the study. Urine samples and periurethral swabs were obtained from all patients and cultured on appropriate culture media. Various tests used for the identification of microorganisms were: Gram-staining, catalase test, coagulase test and esculin hydrolysis for the identification of Gram-positive bacteria, API 20e for Gram-negative bacilli, whereas lactophenol blue preparation and germ tube test were used for the identification of yeasts. Out of 60 patients, 41[68.3%] were males and 19 [31.7%] were females. The mean duration of catheterization was 4.5 days. In males, culture of periurethral swabs revealed coagulase negative staphylococci in 11 [40.7%], Staphylococcus aureus in 10 [37%] and Enterococcus fecalis in 3 [11.1%] patients. In females, the organisms isolated were coagulase negative staphylococci in 4 [25%], Staphylococcus aureus in 4 [25%], Enterococcus fecalis in 4 [25%], Pseudomonas aeruginosa in 2 [12.5%], Escherichia coli in 3 [18.6%] and Candida albicans in 3 [18.6%] patients. Twenty nine patients developed bacteriuria [p < 0.05]. Escherichia coli was the commonest organism causing bacteriuria in either gender followed by other Gram-negative organisms. Coagulase negative Staphylococcus was isolated in the urine of one male patient only. In males, 2 [10%] out of 20 patients with Gram-negative bacteriuria were colonized by the same organism, whereas in females, 4 [44.4%] out of 9 bacteriuric patients were colonized by the same organism. Predominantly Gram-positive organisms colonized the periurethral area in males as well as in the majority of females, whereas Gram-negative bacteria were mainly responsible for the bacteriuria in both genders. There was a significant association between periurethral colonization and subsequent bacteriuria, however, prior colonization with a particular organism is not a decisive event in the initiation of bacteriuria

Dehydrating diarrhoea in children due to vibrio cholerae

A descriptive study was carried out to determine the causative organism of diarrhea, it's possible source and the clinical outcome after therapy. Fifteen children were admitted with H/ o acute onset of watery diarrhea. Stool samples were submitted to look for motility of the organisms and cultures. Stools in 8 patients revealed the growth of Vibrio cholerae 01 biotype El Tor serotype Ogawa. All the isolates were sensitive to Doxycycline, Ciprofloxacin and resistant to Cotrimoxazole, Chloramphenicol, Nalidixic acid. Three of the isolates were resistant to Ampicillin. Cholera is endemic in Pakistan with the propensity to cause epidemics especially in summer season. Adequately chlorinated water supply and improvement in public and personal hygiene can go a long way in preventing large epidemics of Cholera

Incidence and multidrug resistance in typhoid salmonellae in Bahawalpur area

Typhoid fever is a major problem affecting milions of people all over the world specially the developing countries. Resistance of the salmonella isolates to conventional antityphoid drugs has continued to rise for the last 10-15 years. This study was done to determine the prevalence and susceptibity pattern of various salmonellae isolated in the region of Bahawalpur. A total of 107 blood cultures were performed out of which 42 were found to be positive for salmonella, 39 were Salmonella typhi and 3 were Salmonella paratyphi A. Among Salmonella typhi isolates 21 [53.8%] were resistant to ampicillin, chloramphenicol and Cotrimoxazole, one isolate was resistant to ampicillin and Chloramphenicol but sensitive to Cotrimoxazole. All the isolates were sensitive to the fluoroquinolones and 3rd generation cephalosporins. Inspite of all the drugs available, the problem of spread of typhoid continues. This study shows that the prevalence of overall resistance to Salmonella typhi is high in this area also. The continuous uninhibited use of antibiotics may lead to 100% resistance to these antibiotics and acquisition of resistance by other organisms also. The medical and public health officials must be prepared to tackle the future epidemics of multidrug resistant Salmonella typhi