Cytogenetic and molecular analyses of philadelphia chromosome variants in CML [chronic myeloid leukemia] patients from Sindh using karyotyping and RT-PCR

To determine the frequency of Philadelphia chromosome [Ph] and its variants in chronic myeloid leukemia [CML] cases at a tertiary care hospital of Sindh. The study was conducted at the Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro and Isra University Hospital, Hyderabad during May-to-September 2014. Bone marrow and peripheral blood samples from a total of 145 diagnosed cases of CML were collected. Cytogenetic analyses were performed using karyotyping as per the International System for Human Cytogenetic Nomenclature guidelines. All karyotypic images were analyzed using the Cytovision software. In order to identify BCR-ABL transcripts, RT-PCR was performed. Statistical analysis of the data was done using SPSS-version-21.0. Of the 145 samples, a total of 133 [91.7%] were positive for the Ph [Ph+] while 12 [8.3%] were negative for the Ph [Ph-]. Of the 133 Ph+ samples, standard karyotypes were noted in 121 [91%], simple variants in 9 [6.7%] and complex variants in 3 [2.3%] of the samples. All the Ph+ samples [n=133] showed BCR-ABL positivity. Of the 12 Ph- samples, a total of 7 [58.3%] were BCR-ABL-positive and 5 [41.6%] were BCR-ABL-negative. Frequency of the Ph was found to be of 90.9% in CML patients using a highly sensitive technique, the RT-PCR. Cytogenetic abnormalities were at a lower frequency. Cytogenetic and molecular studies must be conducted for better management of CML cases. These findings could be very useful in guiding the appropriate therapeutic options for CML patients

Differential immune cell densities in ductal carcinoma In-Situ and invasive breast cancer: possible role of leukocytes in early stages of carcinogenesis

To investigate immune cell densities in pre-neoplastic [DCIS], cancer [IDC] and control breast tissues. A total of four preneoplastic, 104 cancer and 104 control samples were analyzed. Morphological classification and prognostic scoring along with quantification of immune cells/mm[2] was performed. Data were entered and analyzed using SPSS version 16. Correlation of immune cell densities with various tumour sub-types was investigated using paired t-test and ANOVA. A p-value of <0.05 was considered as significant. Our data show increased infiltration of lymphocytes [mean lymphocytes = 287.6 cells/mm[2]] as well as myelocytes [mean lymphocytes = 117.1 cells/mm[2]] in pre-neoplastic tissues. This infiltration was significantly high compared to cancer [p-value<0.001] as well as control tissues [p-value <0.001]. Moreover, we report increased infiltration of lymphocytes in cancer tissues compared to controls [p-value<0.001]. There was no difference in lymphocyte densities within various tumour sub-types [all p-values >0.05]. Leukocytes may play a role in early stages of breast carcinogenesis

Use of corticosteroids in the management of idiopathic pulmonary haemosiderosis: do we have enough evidence

Idiopathic Pulmonary Haemosiderosis [IPH] is a rare disease commonly affecting the paediatric population with approximately 500 globally reported cases in the literature. The disease usually presentswith a symptom triad consisting of ferropenic anaemia, cough with haemoptysis and diffuse bilateral alveolar infiltrates. Therapeutic options for this disorder are not only limited but also not fully effective. Moreover, corticosteroids remain the mainstay of IPH treatment. This communication reviews the available evidence in support of corticosteriod usage in the treatment of IPH. We conclude that the use of corticosteroid in IPH treatment is unfathomed and demands further investigation

Various presentation of abdominal tuberculosis in surgical patients

To see the various presentation of abdominal tuberculois in surgical patients. prospective study. This study was carried out in the Surgical Department at civil Hospital Karachi, from Oct 2011 to 31[st] May 2012. Study consisted of twenty six patients. Base line and specific investigations were done in all patients, especially mantoux test, sputum examination x-ray abdomen and ultrasound of abdomen. Inclusion criteria were that all patients diagnosed as case of tuberculosis on the basis of history, clinical examination and investigations. Exclusion criteria included unfit patients for general anesthesia, pregnant ladies due to risk of foetal loss, patients with carcinoma of colon. Data was analyzed through SPSS software. 26 cases of abdominal tuberculosis. 12 males [46.15%] and 14 females [53.84%]. Male to female ratio was 1:1.16. Age ranged from fifteen to seventy years with mean age of patients were 42.1 years. Twelve Patients [46.15%] presented in subacute intestinal obstruction, four patients [15.38%] with acute intestinal obstruction, six [23.07%] with signs of peritonism and four [15.38%] with mass in abdomen. Erythrocyte sedimentation was 2 patients [7.70%] had ESR 20 mm/hr, eight patients [30.77%] between 20 to 40 mm/hr, eleven patients [42.1%] between 40 to 60 mm/hr and five patients [19.23%] between 60 to 100 mm/hr. Liver Function Test was within normal range in all of them. Mantoux Test was found positive in fourteen [53.84%]. Plain x-ray abdomen erect and supine position showed sixteen patients [61.54%] significant findings were observed. Barium meal and Follow through examination was performed in four patients [15.38%]. Three patients [75%] showed narrowing of ileum and irregularities in the caecum and one' patient [25%] had dilated small bowel loops with narrowing of terminal part of ileum while caecum was normal. In one patient [3.84%] small bowel enema revealed delayed emptying of small bowel with dilatation of jejunum, Barium enema was performed in three cases, which revealed, filling defect in caecum and narrowing at ileocecal junction. We conclude that. The clinical features of this disease are usually non-specific, vague and diverse therefore the accurate diagnosis is some times difficult

Single incision Trans scrotal versus standard inguino-scrotal orchidopexy in children with palpable undescended testis: our experience from April 2007 to April 2010

To compare the efficacy and complications of single incision trans scrotal versus standard inguinal orchidopexy in children with palpable undescended testes. This randomized controlled trial was conducted at the Paediatric Surgery Department Bahawal Victoria Hospital Bahawalpur from April 2007 to April 2010. Children aged 9 months to 12 years, diagnosed as cases of palpable undescended testes were randomized into two groups. In group A orchidopexy was performed through single scrotal incision and in group B by standard two incision inguinal approach. The groups were compared for operative time, hospital stay, scrotal hematoma, wound infection, and secondary ascent. Each group had 134 cases. Mean operative time and hospital stay in group A and B were 28.32 +/- 0.92 minutes and 47.83 +/- 0.76 minutes [p value 0.0001] and 1.027 +/- 0.205 days and 3.023 +/- 0.203 days [p value 0.0001] respectively. There was no significant difference in the formation of scrotal haematoma, wound infection and secondary ascent of testis between the two groups. The conversion rate of surgery in group A was 7.46%.Trans scrotal orchidopexy is the simple, effective and less invasive technique as compared to the standard two incision inguinal approach.

Treatment of old supracondylar fractures of humerus In children

To study the outcome of open reduction and fixation with K wires of supracondylar fractures of humerus in children presenting between 2-14 days after injury. Case series. Department of Orthopaedics, B.V.Hospital Bahawalpur, from April 2009 to March 2010. This study included patients with displaced extension type supracondylar fracture of the humerus [Gartland type III] who presented between 2-14 days post injury. Open reduction and internal fixation[ORIF] with crossed K-wire was done. The results were assessed by the criteria described by Flynn et al and Mark et al. The average age of patients was 4.5 year. The average hospital stay was 2 days [range 1-3 day]. The average duration of follow-up was 15 months [range: 12-24 months]. Forty patients were managed during the study period. Eighteen [45%] patients had excellent results with less than 5 degree loss of range of motion and minimal loss of carrying angle; thirteen [32.5%] had good results out of which seven had less than 10 degree loss of carrying angle and six had less than 20 degree loss of motion. Six [15%] had fair results due to transient nerve lesions. One of the six patients had 30 degree loss of motion. The remaining three [7.5%] had poor results due to varus deformity that needed corrective surgery. Delayed presentation of displaced supracondylar humerus fractures in children did not increase complication rates or unsatisfactory results following an open reduction and internal fixation with K wires. It is a safe and effective method of treatment even with delayed presentation of supracondylar fractures of humerus in children

Pakistani journals and the impact factor: where are we standing right now

To summarizes the performance of Pakistani journals in terms of their Impact Factor. Pakistani journals were analyzed for their impact factor [IF], citations and publications from 2000-2009. Journal Citation Reports [JCR] published by Thomson Reuter was used to retrieve the data electronically. All tables and graphical presentations were generated by using either Minitab version-10 or MS-Excel for Macintosh. Total seven journals have their IF in the year 2009. Only two Pakistani Bio-medical journals have an international impact factor listed by JCR. The highest impact factor of any Pakistani journal is 0.825 in 2009 of Pakistan Journal of Pharmaceutical Sciences. In the year 2009, Journal of College of Physicians and Surgeons Pakistan [JCPSP] and Pakistan Journal of Medical Sciences [PJMS] were included in the list of IF journals for the very first time after 13 and 26 years of their first publication respectively. The IF of JCPSP is 0.554 and PJMS is 0.203 for the year of 2009. There is a very small contribution by Pakistani journals in terms of ISI indexation. Basic sciences journal continues to overshadow in term of ISI indexation with highest impact factor of 0.825 by Pakistan Journal of Pharmaceutical Sciences

Empyema thoracis; possible factors for predicting this complication in children with community acquired bacterial pneumonia

Empyema as a complication of community acquired pneumonia [CAP] is relatively common occurrence in developing countries. Prospective study. 4 year Jan 2001- Dec 2004. Department of Pediatric surgery the Children's hospital Lahore. A total of 114 cases of empyema thoracic secondary to CAP were dealt with during this period, while in the same duration a total of 1768 cases of pneumonia were treated at the Children's hospital Lahore. Majority of the patients with CAP [59.61%] were below one year of age whereas the patients who developed empyema, were mainly [45.67%] between 2 to 5 years of age. Patients above 5 years of age having CAP [31.70%] and having repeated attacks of respiratory tract infection were most susceptible to develop empyema. Staphylococcus aureus was the most common organism found [40.35%] in this series. Vaccination, poverty and gender did not significant affected the development of empyema among the patients of CAP. Antibiotic resistance had no role in the development of empyema. Ibuprofen may be a risk factor. All the patients were initially managed with tube thoracostomy and antibiotics. Forty-eight patients [42.10%] needed subsequently operative management. Three patients [2.63%] had fatal course in this series same as seen in patients of CAP [2%]. Immunization against causative organism and modification of out patient treatment may affect the incidence of empyema in children and should be studied prospectively

Daily progress notes by surgical interns: an assessment of quality

To evaluate the quality of daily progress notes documented by surgical interns in a tertiary care teaching hospital. Daily progress notes documented by interns during two months period from February to March 2008 were assessed according to the guidelines developed by the Unit. During each working day progress notes were evaluated in a specially designed proforma about documentation, which included subjective, objective, assessement and plan. Data was analysed by SPSS version 10 and Chi square test was applied between categorial data. Two hundred fifty patient's record were assessed for daily progress notes. Out of them 44 [17.6%] daily notes were not found, so a total of 206 morning follow up notes were analyzed. These included 63 [30.6%] preoparative and 143 [69.4%] postoperative patient notes. Most common documented variable was Blood Pressure reading in 194 [94.2%] notes followed by pulse rate in 193 [93.7%]. The leaset documented variable was assessement of patient's current condition in 111 [53.9%] patients' notes. There was statistical significant difference between quality of notes in preoperative patients as compared to postoperative patients. Overall no significant difference was noted while comparing elective vs emergency surgery patient's notes and hepatits positive vs negative notes. Our results showed that our documentation as regards daily progress notes was overall fair. Systematic audit of this type can lead to the development of improved documentation supporting the clinical process within a busy general surgical department with benefits for patient care, clinical governance and inter-specialty communication

Microcephaly: tracing the evolutionary lineage of ASPM gene

Microcephaly, in the form of congenital autosomal recessive disorder [MCPH], is characterized by the reduced occipital frontal head circumference >3 standard deviation of otherwise normal population of matching age and sex. The disease is primarily associated with mild to severe mental retardation. Earlier studies have unravelled that among Pakistani population, mutations in ASPM gene is strongly associated in MCPH. In the present study, we have explored the ancestral root of this disease and the process involved in its evolution using tools of bioinformatics. Experimental Methods: cDNA gene and protein sequences of ASPM gene were retrieved from NCBI database and subjected to the non-redundant BLAST. Consensus phylogenetic tree was developed after multiple sequence alignment and bootstrapping of the protein sequences of ASPM gene from different mammals using Neighbour Joining method, selecting non mammals as an out group. Comparisons of the gene synteny and exon and intron patterns of ASPM gene were also undertaken to investigate chromosomal changes during the course of human evolution. Different statistical evolutionary models namely, Codon Based Z test and Maximum Composite Likelihood Estimate were used in order to estimate the nature of nucleotide substitution and the type of selection pressure the gene has undergone. Phylogenetic tree based on ASPM gene clearly segregated all non mammalian members as an out group. Mammalian in group holds the established evolutionary lineage, based on morpho-genetic attributes of mammalian evolution, segregating monotremes at the beginning followed by the members of rodentia and finally radiation of the primates including humans. Orientation of the ASPM gene remains conserved between human and chimpanzee, however, it was found reversed along with two flanking genes, a zinc finger binding domain 41 and coagulation factor XIII, which suggest relatively recent event of gene inversion. Some earlier and, in comparison, more intricate chromosomal changes have also been detected among the lower order of mammals. Aligning ASPM gene exons with the primates and lower order mammals indicates transitional bias of mutation over transversion [R value= 1.563]. Holistically, codon based Z test revealed positive selection pressure on of ASPM gene from rodentia to primates. Briefly, the studies highlights the evolutionary events of ASPM gene in mammals especially primates including humans. Further studies in connection to correlating the cranial cavity size and ancestral gene sequences and in depth sequence comparison would be more insightful in this regard and studies in this connection are ongoing and will be reported shortly

Biliary Atresia: Liver histology and its relation to the age of the patient

There are gross and histological changes in liver with increasing age in patients with biliary atresia. These changes have inverse relation to the outcome after surgery. There are geographical differences in the histological changes and severity as well as outcome of patients with biliary atresia. This study determines the histological changes in liver biopsy specimen taken during surgery on patients with biliary atresia from various age groups. No such data on Pakistani population is available. All children, total number 42, with age from one month and above, diagnosed to have biliary atresia, were studied. It is a single center, prospective, interventional study over a period of 5 years. Spearman correlation was used to find a correlation between the age of the patient and severity of histological variables. The only constant histological finding that evolved with increasing age was cirrhosis of liver. It was not present up to the age of 2 months. 57.1% of patients from 2 months to 2.5 months and 62.5% of patients up to the age of 3 months had cirrhosis of liver. It was statistically significant with a p value =0.004. Other statistically significant variables were, portal fibrosis with a p value =0.005, bile duct proliferation with a p value =0.002 and portal cholestasis with a p value =0.024. Onset of cirrhosis impairs the prospects of a good recovery. Significant changes take place in liver histology in patients with biliary atresia with increasing age.Early diagnosis and prompt treatment is necessary for a satisfactory outcome. The findings in our population are very similar to the results by many other workers and the onset of cirrhosis appears to be rather earlier in this small group of patients