Clinical and Genetic Heterogeneity of Familial Early-Onset Diabetes: Case of Six Tunisian Patients Suspected of Maturity-Onset Diabetes of the Young 12

Background and objective: Maturity-onset diabetes of the young 12 (MODY12) is a form of early-onset type 2 diabetes, which is transmitted in an autosomal dominant mode. It has clinical features similar to MODY1 and MODY3. The aim of this study is to screen for mutations in ABCC8 gene in six Tunisian patients suspected of MODY12 using Sanger sequencing. Methods: Six probands, with diabetes in 2-3 generations and found previously negative for mutations in HNF1A, HNF4A, INS, IPF1 and NEUROD1, were screened for known mutations in ABCC8 gene using Sanger sequencing. A comparison of the clinical features of our patients with MODY12 cohorts of other studies was also performed using ANOVA test. Results: The six patients were diagnosed with overt diabetes (fasting glycemia: 12.85 ± 3.5 mmol/l, HbA1c: 12.51 ± 2.58%) at mean age of 25.16 ± 5.11 years. They had a BMI mean equal to 26.7 ± 5.9 kg/m2. The majority of the patients were initially treated with OHA or on diet. Some of them converted to insulin therapy. Although, the comparison of our cohort with other MODY12 cohorts showed no significant difference in age at diagnostic and HbA1c, molecular analysis showed only two synonymous non-pathological polymorphisms rs1799857 and rs1805036. Conclusion: Our study highlighted the clinical and genetic heterogeneity of familial earlyonset diabetes in the Tunisian population, which is concordant with previous studies Thus, the need for using nextgeneration sequencing technologies to determine the aetiology of these forms of diabetes.

Efficacy of serum blood urea nitrogen, creatinine and electrolytes in the diagnosis and mortality risk assessment of patients with acute coronary syndrome

Background Although blood urea nitrogen (BUN), creatinine (Cr) and electrolytes are not the mainstay of diagnosis in acute coronary syndrome (ACS) patients but they may have a role in providing a more detailed view of the complications and mortality rates. The aim of this study was to determine the efficacy of these parameters in the diagnosis and mortality risk-assessment of patients with ACS. Methodology A total of 200 patients with ACS were recruited in this prospective study. The relationship of serum BUN, Cr and electrolytes with cardiac enzymes, Global Registry of Acute Coronary Events (GRACE) and mortality was assessed during a 6-months follow-up. Statistical test like multivariate linear regression and binary logistic regression analysis were applied. Results On multivariate linear regression analysis, serum potassium (K) (Unstandardized Coefficient B = −3.77; p = 0.04) showed significant negative association with Creatine Kinease and serum BUN (Unstandardized Coefficient B = 0.52; p = 0.001) showed significant positive association with Troponin I. The patients with GRACE > 105 had significantly higher levels of serum BUN and Cr. Receiver operating characteristic curves showed that area under curve (AUC) of BUN (0.7) was higher than AUC of Cr (0.5). Multiple adjusted model showed that patients with BUN > 32.5 mg/dl were almost 20 times more likely to be associated with mortality as compared to reference group. Conclusion In addition to cardiac enzymes, K along with BUN and Cr may serve as important aid in diagnosis of ACS. BUN and Cr may also serve as important tools in mortality-risk assessment of ACS patients.

Prognostic value of blood count parameters in patients with acute coronary syndrome

Background Recent studies have shown that complete blood count (CBC) parameters can effectively predict long-term mortality and re-infarction rates in acute coronary syndrome (ACS). However, the role of these parameters in predicting short term mortality has not been studied extensively. The main objective of this study was to determine whether CBC parameters can predict 30-days mortality and the incidence of major adverse cardiac event (MACE) in ACS patients. Methodology A total of 297 patients with ACS were recruited in this prospective study. The relationship of baseline white blood cell (WBC) to mean platelet volume ratio (WMR) with MACE and mortality was assessed during a 30-days follow up. The patients were divided into two groups: Group A [WMR < 1000] and Group B [WMR > 1000]. Multivariate COX regression was performed to calculate hazard ratios (HR). Results WMR had the highest area under receiver operating characteristics curve and highest discriminative ability amongst all CBC parameters in predicting mortality. Patients in Group B had a higher mortality rate (p < 0.001) than patients in Group A. WBC count (p = 0.02), platelet count (p = 0.04), WMR (p = 0.008), platelet to lymphocyte ratio (p < 0.001) and neutrophil to lymphocyte ratio (p = 0.03) were significantly higher in the MACE-positive group as compared to MACE-negative. In multivariate cox regression analysis, WMR > 1000 (HR = 2.9, 95% confidence interval 1.3–6.5, p = 0.01) was found to be strongest biochemical marker in predicting mortality. Conclusion WMR is an easily accessible and an inexpensive indicator, which may be used as a prognostic marker in patients with ACS.

Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: a polymerase chain reaction - gene based study

Background: Numerous viral infections have triggered acute asthma exacerbations. Despite the fact that diagnosis of M. pneumoniae infection is based on sero-prevalence studies but molecular diagnostic techniques, such as PCR, have offered improvements in sensitivity, specificity and rapidity over the latest methods

Objectives: The aim of this molecular study is to determine the infection rates of M. pneumoniae in acute asthma exacerbation in a group of Iraqi children from Baghdad and also to examine the correlation of the disease with different variable characteristics and symptoms

Methods: This study included 94 children between 2 and 13 years old; Fifty in-patient asthmatic children and 44 non-asthmatic children as control group who were out-patients of the same hospital. Throat and nasal swab samples were taken for DNA extraction and PCR procedures

Results: PCR results show that 33.3% asthmatic patients were positive for M. pneumoniae while 66.7% were negative [p < 0.001]. 53.8% of M. pneumonia-positive asthmatic children were 2-5 years while 46.2% were 6-14 years old. Among asthmatic patients with positive PCR, 30.8% had positive history of seasonal pattern [p = 0.026] and 69.2% have positive family history of atopy [p = 0.05]

Conclusions: Family history of atopy has strong association with asthma [p = 0.005], while factors such as sex, residence, seasonal allergen, animal allergen, passive smoking, mode of delivery or consanguinity has not been associated with asthma. M. pneumonia in a respective bulk among pediatric patients with asthma constituted an important risk factor for asthma exacerbation presented as cough and wheezy chest without fever or chest X-ray findings

Bevacizumab in Recurrent Glioma: Patterns of Treatment Failure and Implications

Glioblastoma, the most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. Bevacizumab, a monoclonal antibody against the vascular endothelial growth factor receptor, has increasingly been used in the treatment of recurrent glioblastoma. It has achieved excellent rates of radiographic response, but most patients will progress after only a few months. Upon recurrence, tumors may not enhance, secondary to vascular normalization. We describe four patterns of radiographic progression commonly associated with Bevacizumab failure: 1) Distant enhancing tumor, 2) Local tumor progression without enhancement, 3) Diffuse gliomatosis-like infiltration, and 4) Local or multifocal progression, with enhancement. Some have noted an increased incidence of distant or diffuse disease upon recurrence, suggestive of a transition to a more aggressive phenotype, but a review of the literature suggests there is no conclusive evidence that Bevacizumab treatment is associated with an increased rate of distant or diffuse recurrence.

Incidence Of Pneumococcal Meningitis In Children Less Than 5 Years Age In Malaysia, Singapore And Thailand: Review

Streptococcus pneumoniae (pneumococcus) is the most common cause of community-acquired pneumonia, meningitis, and bacteremia in children and adults, including the elderly, and is responsible for high rates of morbidity and mortality worldwide. Aim of this paper to review published articles on incidence of pneumococcal meningitis in children less than 5 years of age in Malaysia, Singapore and Thailand, and compare the incidence of pneumococcal meningitis among the children in the three courtiers. Literature searches were conducted using google scholar, PubMed, the World Health Organization (WHO) website of the Weekly Epidemiological Record, and the countries’ Ministry of Health (MOH) website, and were limited to articles written in English. All relevant publications/abstracts published/presented during the period December 2000 through March 2014. Searches were conducted from April 1, 2014, till July 11, 2014 using various combinations of the following search terms “ Pneumococcal diseases” OR “meningococcal” OR “pneumococcal meningitis” OR “meningococcus”. A total of five articles and abstracts described the incidence of pneumococcal meningitis among children 5 years old. These five documents include two conference abstracts from Malaysia, one published paper from Singapore and two published papers from Thailand. The Malaysian, Singaporean and Thai pneumococcal meningitis incidence rate was 3.8-8.6, 2.3 and 0.10-1.8 per 100,000 children respectively. Our review confirmed that the incidence rate of pneumococcal meningitis was vary among the countries. The highest incidence rate of pneumococcal meningitis was found in Malaysia followed by Singapore and Thailand.

HCV transmission between serodiscordant couples through sexual route

To determine the rate of transmission of HCV between spouses through sexual route. Descriptive study. This study was carried out at Military Hospital, Rawalpindi, Pakistan. It was conducted over a period of 4 years from June 2009 to June 2013. One hundred and sixty eight consecutive patients confirmed to have HCV infection by PCR for HCV RNA were enrolled in the study. Their spouses were also included in the study, and it was established through PCR for HCV RNA that the spouses were not suffering from HCV infection. All couples were inducted in the study within the first two months of starting the study. Therefore, the maximum and minimum follow-up time was 48 months and 46 months, respectively. The spouses were questioned for HCV risk factors and were tested for HCV antibodies six monthly. Once spouses were found to be anti-HCV positive, their HCV status was confirmed with PCR for HCV RNA. Out of 168 patients, 90 [53.57%] were males and 78 [46.43%] were females. PCR for HCV RNA was found to be positive in 4 of 168 [2.38%] spouses. All these 4 couples in whom HCV transmission was found had genotype 3a. Out of the 4 spouses who tested positive for HCV RNA PCR, 3 [75%] were females and 1 [25%] was male. So HCV infection was transmitted in 3 out of 90 [3.33%] and 1 out of 78 [1.28%] female and male spouses, respectively. In PCR for HCV RNA positive and negative spouses, the duration of marriage was 202 +/- 53 and 199 +/- 49 weeks; and the number of total sexual intercourses was 171 +/- 93 and 169 +/- 89, respectively. HCV transmission among serodiscordant couples in our setup did occur. The overall rate of transmission was 2.38%. The rate of transmission from male to female [3.33%] was higher than female to male [1.28%]. However, a large scale study conducted over a longer duration of time is needed to recommend protected sex in serodiscordant couples if either partner is suffering from HCV infection

Role guided intraperitoneal port-a-cath insertion in the managment of cancer ovary of fluoroscopic

The use of intraperitoneal [IP] chemotherapy as a treatment for ovarian cancer has been demonstrated to result in improved survival. The aim of this work is to evaluate the applicability and efficacy of fluoroscopic placed intraperitoneal port-A-cath and to assess the response rate to intraperitoneal chemotherapy in cases of ovarian carcinoma. The studied group included, 22 female patients with malignant ovarian cancer whom referred from gynecological surgery and gynecological oncology units to the Vascular and Interventional Radiology Unit, Ain Shams University Hospitals, for peritoneal port-A-cath application. All the patients were known cases of either primary or recurrent ovarian cancer, underwent cytoreductive surgery and referred to us. Intraperitoneal port-A-cath with the aid of fluoroscopy showed highest technical success [91.9%] and lowest complication rate on the long run compared to other methods of peritoneal access. Patients with cancer ovary showed significant improvement of the disease process denoted by changes in the degree of ascites, peritoneal nodules and tumor marker level after receiving combined IV/ IP chemotherapy. Port catheters proved to be the most safe method of long term access to the peritoneal cavity with the lowest complication rate compared to other methods of access to the peritoneal cavity

Fibromyalgia syndrome in 104 Iraqi patients with inflammatory bowel disease

Fibromyalgia syndrome [FMS] is a common rheumatologic syndrome with multiple systemic manifestations and associated with many diseases. To assess fibromyalgia syndrome in inflammatory bowel disease. One hundred four Iraqi patients with inflammatory bowel disease were studied and compared with another [112] healthy individuals matched for age and sex as a control group. Full history was taken and complete clinical examination was done for all individuals in both groups. Fibromyalgia syndrome was diagnosed in all patients on base of the American College of Rheumatology [ACR] 1990 Criteria for the classification of FMS. Inflammatory bowel disease was detected by colonoscopy and tissue biopsy. There was a significant increase in the frequency of FMS among individuals with IBD [24%] compared to healthy control group [5.4%] [[P-value=0.0001, Odd ratio=0.18, 95% CI=0.07-0.46]. FMS occurs with increased frequency in IBD

Comparison of efficacy of calcium channel blockers with angiotensin converting enzyme inhibitors in the treatment of essential hypertension in elderly men

To cornpare efficacy of calcium channel blockers [CCBs] with angiotensin converting enzyme inhibitors [ACEIs] in the treatment of elderly men [age more than 55 years] with essential hypertension. Randomized controlled trial. Military Hospital Rawalpindi, one year [From September 2005 to September 2006]. One hundred male patients with stage 2 hypertension, aged more than 55 years, meeting the inclusion and exclusion criteria were randomized in 2 groups by non-probability convenience sampling. One group received calcium channel blockers [CCBs], and the other group received angiotensin converting enzyme inhibitors [ACEIs] daily for duration of 6 months from the day of enrolment during the one year study period. Reductions in blood pressure means were observed in both groups after six months of therapy i.e. 28.52 mm Hg [with CCBs] and 26.4 mm Hg [with ACEIs] for systolic blood pressure and 16.32 mm Hg [with CCBs] and 13.4 mm Hg [with ACEIs] for diastolic blood pressure. The mean drop of systolic blood pressure in group 1 was 2.12 mm Hg more than group 2 and was significant [p value < 0.05]. The mean drop of diastolic blood pressure in group 1 was 2.92 mm Hg more than group 2 and was significant [p value < 0.05]. The study suggests that calcium channel blockers have a superior efficacy in controlling blood pressure; both systolic as well as diastolic, as compared to angiotensin converting enzyme inhibitors for stage 2 hypertension in elderly men

Measurement of bilirubin in the newborns by bilirubinometer

High blood concentrations of bilirubin are toxic to the brain and may cause kernicterus. Therefore, determination of bilirubin levels is performed for many newborns, and several different methods are available. We compared 2 standards used for bilirubin determination among newborns under routine conditions, to define their sequence of use. This study was carried out during the period from March 2003 and December 2006 at the Vaccine and Sera institute / Ministry of Health, Baghdad, Iraq. Bilirubin concentrations were determined with 2 standards: local standard [prepared from chemical compound which has a broad spectral absorption peak at 460 nm, this solution is stable indefinitely], and randox standard [obtained industrially by extraction of either cattle or pig bile, or bovine, and it can be isolated as light-sensitive orange-red crystals with certain "stability" about 24 hours]. A total of 100 samples were obtained. The 2 standards showed very strong correlations [correlation coefficients 0.9999] with each other; and; their means were used as comparison values. In the routine care of newborns, the measurement of total bilirubin by bilirubinometer provides better agreement with local standard than does randox and it is the first choice. Testing specimens based on human serum would provide meaningful information regarding the accuracy and precision of total bilirubin assays. The ability to grade proficiency testing participants for accuracy, using target values determined by the reference method, could become a valuable contribution toward improving the quality of bilirubin assays, which is essential for the management of neonatal hyperbilirubinemia. Local standard give accurate information on bilirubin concentrations as do randox standard did, and presented the best results

Malign ant lung tumors; efficacy of bronchial wash cytology and its correlation with biopsy in diagnosis

To determine sensitivity and specificity of bronchial wash cytology in diagnosis of malignant lung tumors, with histopathology as gold standard. Validation study of bronchial wash cytology as a screening procedure. Pulmonology unit, Department of Medicine, Military Hospital Rawalpindi. Six months [from Nov 2004 to May 2005]. Hundred indoor patients either gender with clinical suspicion of lung tumors were included in this study by convenience non probability sampling. Transbronchial biopsies of the lesions were done and samples to tissues were collected for histopathological examination. Ten ml of reaspirated isotonic saline was sent for bronchial wash cytology examination. Out of 100 patients histopathological examination confirmed malignancy in 75 [75%], whereas cytology could detect malignancy in 58 [58%]. Thus bronchial wash cytology had a sensitivity of 77.33% and a specificity of 1-00%. Pulmonary wash cytology has good sensitivity and specificity but yields less information as compared to biopsy. It is particularly useful in patients were the latter is contraindicated or the required expertise is not available

Retroperitoneal tumors: types and presentations

The retroperitoneal tumors is usually confined to lesions arising from tissues [muscles, fat, lymph nodes, nerves, and, developmental remnant] of this compartment but excluding origin from the retroperitoneal organs [panaceas, kidney, ureters and adrenals]. The aim of the study is to focus a light on the types of retroperitoneal tumors, ways of the investigations and the presentations. A prospective review study of 25 patients with retroperitoneal tumors has been collected in the Medical City Teaching Hospitals During the period between Jan 2001 to Mar 2004. The data included age, gender, risks factors, clinical presentations, diagnostic modalities and results ofhistopathology. 14 males [56%] and 11 females [44%_ patients. The highest incidence of patients were in the [51-60 years] age group [10/25, 40%]. The most common presenting feature was abdominal mass [20/25, 80%]. u/s and CT scan were the most reliable investigations in the diagnosis. The most common tumors were sarcomas [15/25, 60%] and lymphomas [5/25, 20%]. Although retroperitoneal neoplasms account for 0.1 - 0.2% of all malignancies [s], it seems that from our findings most of the tumors were malignant, where the sarcoma represents the common tumor among them, the presentations and the diagnostic modalities especially u/s and CT have a similarity with most of the studies reviewed

Latest approaches to the diagnosis and management of food allergies in children

Adverse food reactions are a challenge for physicians. As the prevalence of this condition rises, it is important that paediatricians and other health care professionals adeptly diagnose this condition. We begin by discussing the relevant points in history and physical examination, then we discuss the recent effective diagnostic tests and techniques available for doctors and patients, along with several management options. Over the last decade, there have been major advancements in this field and novel mechanisms have been proposed which efficiently modulate immune mechanisms involved. Although results are only preliminary, they do however, indicate a promising future for patients with food allergies

Osteochondritis dissecans of the knee: correlation of magnetic resonance imaging and arthroscopy

Twenty-three patients with osteochondritis dissecans of the knee were examined with MR imaging and subsequently under went arthroscopy. The youngest patient was 15 years old, and the eldest 42 years with mean age of 20.2 years. MR imaging permitted direct visualization of the lesion as well as the overlying articular cartilage in all cases. Based on the MR imaging findings 4 lesions were classified as stable [14.7%], 5 loose in situ [21.7%], and 14 grossly loose [60.9%]. Arthroscopically 5 lesions were classified as stable [21.7%], 4 loose in situ [17.4%], and 14 grossly loose [60.9%]. Correlation of these findings revealed that the MR imaging was accurate in separating loose from stable lesions in 95.7% of the cases. MR imaging is the only non-invasive radiologic tool that can provide direct and conclusive evidence of loosening as well as displacement of the lesion. These informations have assisted in deciding whether surgery is likely to be needed, and how the lesion should be approached

Role of CT and MRI in diagnosing clinically obscure orthopedic cases

Seventeen patients with non-diagnostic clinical and radiographic findings were studied with CT scan. MR imaging was done in 12 cases. The preoperative diagnosis has been improved by using these imaging modalities. Accurate localization of the lesion has facilitated the surgical procedure in all cases. 7 lesions were osteoid osteoma, 6 Brodie's abscess, and 4 tuberculosis. CT scan results were found to be in agreement with the surgical and biopsy findings in 82% of the cases. MR imaging was found to be superior to CT scan in delineating the soft tissues and marrow space involvement. CT scan was superior to MR imaging in showing cortical involvement and calcifications within the lesion. These data lend strong support to use these imaging modalities when conventional methods fail to show up the lesion