Tuberous sclerosis complex: case report and management by multidisciplinary approach

Tuberous Sclerosis Complex [TSC] is a syndrome characterized by cellular hyperplasia, tissue dysplasia and multiple organ hamartomas. It is a lifelong condition requiring periodic monitoring and evaluation to reduce morbidity and mortality. Our patient is a 32-year-old male who presented to us as an undiagnosed case since childhood with one-week history of abdominal pain. He was uneducated, as well as, suffering from bipolar disorder. On examination, he fulfilled five major clinical criteria required for diagnosis of TSC. The abdominal pain was due to renal complications of the disease, bilateral angiomyolipomas. The routine renal function tests were normal; however, confirmatory radioactive nuclear scan [DTPA] was done to evaluate detailed functional status of both kidneys. The results of DTPA indicated critically low split kidney function bilaterally, inhibiting us from any immediate surgical intervention. The patient was put up on monthly follow-up and treated for his bipolar disorder. Delay in diagnosis for more than 30 years lead to the complications of renal angiomyolipomas and bipolar disorder. Prompt diagnosis, periodic monitoring and evaluation based on individual TSC-associated neuropsychiatric disorders [TAND] profile will delay the complications and help patients becoming productive members of the society

Community response towards polio vaccination campaigns in Tehsil Takht E Nasrati of district Karak

Objective: To find out opinion and response of the community people towards anti-polio campaigns in the target area

Study Design: A cross sectional study

Place and duration: The research was conducted in Tehsil Takht e Nasrati of District Karak from 1[st] September 2012 to 28[th] February 2013

Methodology: The sample size for the study was 40 and the respondents for the study were head of households and were having children below 5 years of age. The sample respondents were residing in the study area from decades and were having enough knowledge about the norms, values, customs and beliefs of the study area which was very important for the study

Results: Out of total 40 respondents, 85% answered that the goal of polio vaccination campaigns are to eradicate polio disease and nothing other than this. Similarly 22.5% respondents answered that religious clerics are negatively propagating the anti polio vaccines while the remaining 77.5% answered that religious clerics are not negatively propagating polio vaccines

Conclusion: Community people are taking polio vaccination positive. They are extending cooperation to the polio vaccination teams and are keen to eliminate this disease. The misconception about polio vaccination can be removed through educating the masses

Son preference in Pakistan: M Myth or reality

Objective: To analyze desire for sons/daughters among ladies of Peshawar, Pakistan, with a view to rule out son preference and to study impact of various demographic characteristics on the subject

Methods: Cross-sectional descriptive study conducted at Combined Military Hospital, Peshawar, from August 2015 - January 2016; sampling technique was random/probability/non-purposive. Self-designed questionnaire was utilized; carrying questions pertinent to desire for sons/daughters during marital life, and demographic details. Data analyzed via descriptive analysis [SPSS-21], expressed as frequencies/ percentages and mean +/- standard deviation [minimum/maximum]

Sons and daughters desired [dependent variables] were cross-tabulated with independent variables

Results: Response rate was 63.25% [n-506]

Data revealed following: Sons desired 3.05 +/- 2.061[1/12]; Daughters desired 1.15 +/- 0.767[0/4]; 6.1%[n-31] and 0.6%[n-3] desired infinite number of sons and daughters respectively, 18.2%[n-92] did not desire to have even one daughter, while 2.2%[n-11] considered it immaterial to have daughters or sons

There was a significant relation between sons desired and client's education [p<0.001], husband's education [p<0.001] and socioeconomic class [p<0.001]. There was no significant impact of religion [p-0.142] on desire for sons. Impact of independent variables on daughters desired was similar but less pronounced

Conclusion: There was candid son preference among the respondents. Gender discrimination can be attenuated by adequately addressing son preference at all tiers

Prevalence of hypovitaminosis D in type 2 diabetes mellitus and its relationship with glycemic control

Background: In addition to its effect on the bones, vitamin D has a myriad of extra skeletal roles. It has been implicated both in the development of type 1 and type 2 diabetes mellitus as well as glycemic control. There is widespread vitamin D deficiency in Pakistan. Incidence of diabetes mellitus is also increasing exponentially. There is a need to define the relationship between 25 hydroxy vitamin D and type 2 diabetes

Objective: The purpose of this study was to determine the prevalence of hypovitaminosis D in type 2 diabetes and its association with the level of control of diabetes mellitus

Materials and methods: This descriptive cross sectional study was conducted at the Department of Internal Medicine, Sir Syed College of Medical Sciences and Hospital Karachi from January to June 2015. Total 168 adult cases of Male and Females patients having type 2 Diabetes Mellitus were included. After taking the informed consent; demographic details, duration of diabetes, and modes of treatment for diabetes were recorded. The glycemic profile and levels of vitamin D were assessed. Glycemic control was categorized as satisfactory and unsatisfactory glycemic control while vitamin D levels were categorized as sufficient, insufficient and deficient. The data was analyzed on SPSS version 20.0. Mean +/-SD was computed for quantitative variables. Frequency and percentages was computed for categorical variables. Relationship of the glycemic control with vitamin D was computed through Chi-square test. P-value of <0.05 was considered significant

Results: Among 168 cases [45.2% males and 54.8% females], mean age was 46.7+/-12 years and mean duration of diabetes 7+/-4.4 years. Mean HbA1c was 8.3 +/-2.28 with 62% patients having unsatisfactory glycemic control. A large proportion of the patients had vitamin D deficiency [80.8%]. Deficiency of vitamin D was significantly associated with both fasting and random blood glucose levels as well as HbA1c

Conclusion: A large majority of patients with type 2 diabetes mellitus have vitamin D deficiency and the poorly controlled diabetes mellitus is significantly associated with vitamin D deficiency

Identification of causative organisms and role of ceftriaxone in spontaneous bacterial peritonitis [SBP] secondary to decompensated liver disease

Background there is increasing trend of gram positive organism present in ascetic fluid culture as a result of selective gut decontamination of gram negative organisms by prophylactic antibiotics for SBP and due to different invasive procedures

Objectives to identify causative organisms in ascetic fluid culture of patients with spontaneous bacterial peritonitis secondary to decompensated liver disease and their sensitivities to ceftriaxone as an empiric therapy

Methods a Cross sectional study was conducted at Department of Gastroenterology, Shifa International Hospital, Islamabad. Aseptic technique was adopted to aspirate ascetic fluid. At least 10 ml of ascetic fluid was inoculated in blood culture bottle at bed side before starting ceftriaxone

Result total 97 patients were included in this study. Among them 57 [58.8%] were male and 40 40[41.2 %] were female. The most common organism was E. coli with a frequency of 42[43.2 %] almost half were ESBL strains 20[20.6%] followed by Klebsiella 15[15.4%] among which 5[5.2%] were ESBL strains while Pseudomonas aeruginosa was 12[12.3%]

Conclusion no increasing trend of gram positive pathogens was observed, however ESBL strains are emerging pathogens. Gram negative organisms are still the common pathogens of SBP

Hspb1 and Tp53 mutation and expression analysis in cat mammary tumors

Background: Molecular marker based cancer diagnosis gaining more attention in the current genomics era. So, Hspb1 and Tp53 gene characterization and their mRNA expression might be helpful in diagnosis and prognosis of cat mammary adenocarcinoma. It will also add information in comparative cancer genetics and genomics

Objectives: Eight tumors of Siamese cats were analyzed to ascertain germ-line and tissue-specific somatic DNA variations of Hspb1 and Tp53 genes along with the ectopic differential expression in tumorous and normal tissues were also analyzed

Materials and Methods: Tumorous tissues and peripheral blood from mammary adenocarcinoma affected Siamese cats were collected from the Pet center-UVAS. DNA and RNA were extracted from these tissues to analyze the Hspb1 and Tp53 DNA variants and ectopic expression of their mRNA within cancerous and normal tissues

Results: Exon 1 and 3 revealed as hotspots in Hspb1 gene. The 5'UTR region of the exon1 bearsix mutation including 3 transitions, 2 transversion and one heterozygous synonymous transversion in two samples at locus c.34C>C/A. Exon 3 has 1 transversion at c.773A>A/T, 3'UTR of this exon harbor two point mutations at 1868A>T and 2193C>T loci. Intron 2 has two alterations at 1490C>C/T and GTCT4del at 1514. Overall up-regulation of Hspb1 gene was observed. While exons 3, 4 and 7 of Tp53 harbor a single variationat c.105A>A/G, c.465T>T/C and c.859G>T respectively. The locus c.1050G>G/A in exon 9 is a heterozygous [G/A] in 3 samples and homozygous [G] in 2 other tumours. Introns 3, 5, 7 and 9 harbor 3, 4, 2 and 7 altered loci respectively. Sixty percent of cancers showed up-regulated trend of Tp53 gene

Conclusions: Tumor specific mutations and ectopic expression of Hspb1 and Tp53 genes might be helpful in the diagnosis of the mammary lesions and endorse their involvement in cat mammary neoplasm

Prevalence of anxiety and depression among doctors; the unscreened and undiagnosed clientele in Lahore, Pakistan

Objectives: To analyze prevalence of anxiety and depression among doctors serving in a tertiary care hospital in Lahore, with a study of impact of relevant demographic features

Methods: A cross sectional study was conducted at Combined Military Hospital, Lahore, from February 2014 to Jan 2015. Participants were doctors serving in subject hospital for at least six months duration. Standardized Hospital Anxiety Depression Score [HADS] inventory was selected as inventory. Formal approval from hospital ethical committee and written informed consent from participants were obtained. Demographic characteristics of participants were recorded as independent variables; anxiety and depression scores being outcome variables. Data analysis was done via descriptive statistics [SPSS-20], qualitative data expressed as frequencies, percentages; quantitative as mean +/- standard deviation[SD]. Cross tabulation was done via chi-square, p-value < 0.05 considered as significant

Results: Out of 203 volunteers, 97[47.78%] responded. Score of anxiety was 7.04 +/- 4.470, maximum being 19, scores of depression was 4.94 +/- 3.605, maximum score being 15. Mild to moderate anxiety and depression were revealed in 33[34%] and 24[24.8%] respectively, while 7[7.2%] and 1[1.0%] had severe anxiety and depression respectively. There was strong positive relation between anxiety and depression[p<0.001]. There was significant impact of service years on depression[p-0.011] and gender on anxiety[p-0.002],9[17.31%] males and 24[53.33%] females had mild to moderate anxiety while 4[7.69%] males and 3[6.66%] females revealed severe anxiety and other variables did not reveal significant impact on HADS scores

Conclusion: Doctors showed high grades of anxiety and depression. They must be promptly screened and managed at all medical institutions

Sequential Application of Plastic Media- Trickling Filter and Sand Filter for Domestic Wastewater Treatment at Low Temperature Condition.

Present research was aimed towards designing and construction of efficient plastic media-trickling filter (TF) for the treatment of domestic wastewater. The hydraulic flow rate through the TF was maintained at 80±2 ml/min at a temperature range of 5-15ºC by selecting treatment time of 12, 24, 36 and 48 hrs. Parameters like COD, BOD5, TSS, turbidity, NO3, NO2, SO4, PO4 and pathogenic indicator microbes were monitored after treatment of 12, 24, 36 and 48 hrs. The efficiency of the TF was improved with increase of time from 12 to 48 hrs. Maximum efficiency of TF was observed after 48 hrs treatment viz. 93.45, 93, 86.25, 57.8, 63.15, 25, 32.43, 99.95 and 86.3% reduction from the zero time value for BOD5, COD, TSS, PO4, SO4, NO3, NO2, turbidity and fecal coliforms respectively. Finally 48 hrs treated sample was passed through sand filter (SF) for further final polishing and approximately, 95.72, 95, 100, 73.5, 65.8, 58.3, 37.83, 100 and 91.5% reduction in BOD5, COD, TSS, PO4, SO4, NO3, NO2, turbidity and fecal coliforms was observed. This study showed that plastic media-trickling filter along with sand filter is a promising technology for wastewater treatment and can be scaled up for small communities in the developing countries.

Role of modified triple test scoring system for evaluation of palpable breast masses in women under age 40

This prospective analytical clinical study was carried out to determine if a modification of the triple test score in which ultrasonography is substituted for mammography could be developed to rapidly and accurately assess breast mass in women under 40 years of age. Total hundred women were included in this study. Women younger than 40 years with palpable masses were evaluated utilizing modified triple test scoring. Surgical oncologist performed physical examination radiologist performed ultrasonography and cytopathologist did FNAC. All the patients were below age 40; about 50% were between 25-29 years. The youngest patients were of 20 years of age. Seventy-five patients were married and 25 were unmarried. Eleven% of the patients gave history of breast cancer in one of their family members. All the patients have a breast lump; most of the patients found their lumps incidentally while palpating them; however 38% of the patients had associated pain. Weight loss and anorexia was present in 3[3%] cases. Most of the patients 53[53%] presented with breast problem of less than three month duration, 26[26%] presented with complaints of 4-6 months duration while 21[21%] having duration of complaints more than 6 months. Fifty-five cases [55%] of breast lump were found on left side as compared to right 45[45%]. We thus conclude that to minimize delay and, therefore, reduce anxiety in majority of patients presenting to hospital and to avoid unnecessary out patient follow up and open biopsy, a policy of modified triple assessment [where ultrasonography is substituted for mammography especially female under the age of 40 years] with immediate reporting to provide a "one stop" diagnostic service proved highly beneficial for patients. The triple test score thus modified and named as modified triple test score [MTTS]

Extra intestinal manifestations of irritable bowel syndrome

Objectives: This study was done to assess the frequency of extra intestinal features present in patients with irritable bowel syndrome

Design and place of study: It was an observational study conducted in out-patient Department of Medicine, Shaikh Zayed Hospital, Lahore affiliated with Federal Postgraduate Medical Institute, over a period of two years from January 2005 to December 2006

Subject and methods: The patients fulfilling the Rome II criteria of IBS were included in the study. A check list of extra intestinal symptoms was administered to all the patients

Results: A total of 63 patients were included in the study. There were 41 men and 22 women [male to female ratio of 1.86: I] with the age range from 18 to 61 years [mean of 33 .09 +/- 8.5 SD]. The mean duration of disease was 2.78 years. Urinary symptoms like frequency and urgency were present in almost one third of patients. These symptoms were more frequent in men [47%] than in women [33%]. The most common non-specific pain was chronic headache [62%] followed by fibromyalgia [43%] and non-specific chest pain [37%] of all cases. All of these non-specific pain symptoms were more common in women. Dysmenorrhoea [45%] was the commonest genitourinary symptom in women while impotence and premature ejaculation each were seen in 7% of men. As a group sexual and genital symptoms were more common in women than men

Conclusion: Majority of the IBS patients along with intestinal symptoms also suffers from extra intestinal complaints. Therefore, these patients should be actively screened for the presence of these extra intestinal complaints so that a timely multidisciplinary intervention may prevent further prolongation of their misery

Hairy cell leukemia: a case report

We report a case of a middle aged male diagnosed as Hairy cell leukemia. Clinicohematologic features were fever, weight loss, splenomegaly, anemia and thrombocytopenia. Bone marrow and spleen were infilterated by Hairy cells. An unusual feature was high TLC with large number of Hairy cells resembling superficially Hairy cell Variant. But the Flow cytometric analysis confirmed that immunophenotype was that of classic Hairy cell leukemia. Patient responded to Cladarabine therapy and had an uneventful recovery

Performance of ICT-TB test in the detection of pulmonary and extra-pulmonary tuberculosis

Tuberculosis is a major public health problem of the developing nations including Pakistan. We need a simple, economical and non invasive test to make an early diagnosis of T.B. in order to avoid the complications. A study was conducted at the Dept. of Pulmonology, PGMI LRH Peshawar and Ayub Teaching Hospital Abbottabad with the collaboration of Deptt of Pathology KMC Peshawar from Jan 1998 to Dec 2002. A total of 129 patients were included in the study. Out of these 129 patients 52 were pulmonary TB [PTB] smear positive, 30 were PTB smear negative, 30 pleural effusion and 17 were TB lymphadenitis. The control group consisted of 25 non TB patients and healthy subjects. Antibody was detected in 23 of 52 [44%] sputum positive patients, 11 of 30 [36%] sputum negative PTB patients, 10 of 30 [20%] patients of TB pleural effusion and 6 of 17 [35%] patients of TB lymphadenitis. Antibody was detected in none of the control subjects. The overall sensitivity for Pul-T.B. Sputum positive patients was 44%, 36% for sputum Negative Pulmonary TB, 20% for TB pleural effusion and 35% for TB lymphadenitis. The specificity was 100%. ICTTB is a highly specific, but less sensitive aid in the diagnosis of Pulmonology and extra Pulmonology TB