Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. MATERIALS AND METHODS: PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. RESULTS: A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. CONCLUSION: Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.

Knee Osteoarthritis And Its Related Issues: Patients’ Perspective / Jurnal Sains Kesihatan Malaysia

Knee osteoarthritis (OA) is a common chronic joint disease that results in pain and disability in many people. Culturalpractice may influence patients’ views about their condition, its related issues and management. The aim of our study wasto explore the perspective about knee OA and its related issues among Malaysian patients with knee OA. Twelve patientsdiagnosed with knee OA (8 females and 4 males) attending physiotherapy sessions at a University Hospital, mean age(SD): 67.1(9.4) years and median visual analog scale score of 5/10 participated in this qualitative study. One to one indepthinterviews were conducted, audio recorded and later transcribed verbatim. Three main themes were identified fromthe transcribed data; knee pain and its’ related issues (reason and aggravating factors of knee pain, coping strategies),impact of knee pain (impact on daily activities and emotions) and physiotherapy management (effects and expectationsof physiotherapy, compliance and adherence towards home exercises). Most participants expressed that their knee painwas aggravated by certain movements that had an effect on their daily activities namely squatting. The findings alsosuggested that physiotherapy management was perceived as secondary prevention rather than a cure. Findings fromthis study provides information about the perceptions and related issues of patients with knee OA. This information mayhelp health professionals in tailoring patient-centered care and provide better management.

Cancers; Sindh based prevalence of different type of cancers reported in civil hospital Karachi

To calculate the prevalence of common types of cancer in SINDH based on Civil Hospital Karachi [CHK] database. Retrospective Observational Study. Clinical Oncology Department Civil Hospital Karachi, from January, 2004 to December 2011[8 Years]. All the Patients attending the oncology department CHK were selected for study. After completing data the cancer registry patients were categorized according to their diagnosis and this data was recorded on Microsoft Excel sheet. During period of January 2004 to December 2011, the total number of patients included in the study was 5504 out of which 2638 were males and 2866 females. The list of prevalence of different types of cancer was created and according to the statistical analysis based on CHK data base, the increasing trend was seen in breast, oral cavity, lymphoid tissue, blood, colorectal, liver and biliary tract, faciomaxillary, lung, uterus, esophagus, gastrointestinal stromal tumor, larynx, ovary, male genital system, Nasopharynx, urinary system and brain cancers. It is concluded that the registration of cancer patients is highly beneficial for the evaluation of cancer prevalence and incidence. This registration is also helpful for calculating the comparative incidence and prevalence of cancers on national and international levels. The recorded data will also help to improve the quality of life of cancer patients as this data is very much helpful to identify the etiology and risk factors of cancers which will improve health prevention and management plans by higher authorities

Assessment of anti-inflammatory, anti-ulcer and neuropharmacological activities of Cyperus rotundus Linn.

This article reports the assessment of anti-inflammatory, antiulcer and neuropharmacological activities of crude extract of Cyperus rotundus. The plant exhibited significant property to act as an anti inflammatory agent. In experimental design, inflammation was produced by carrageenan in rats and compare with saline treated and Aspirin treated group. Simultaneously the drug was also observed for its antiulcer response and found effective enough [these two activities were observed at the dosage of 300mg/kg and 500mg/kg]. The anti ulcer activity was observed 41.2% as a dosage of 500mg/kg. Neuropharmacological activities [open field, head dip, rearing traction and forced swimming test] were also observed at 300 and 500mg/kg of C. rotundus extract. The crude extract showed mild decreased in all test and exhibited slight muscle relaxant effect. Powder drug studies and FTIR analysis were performed for the authentication of C. rotundus

Superficial bladder tumour recurrence on first check cystoscopy after transurethral resection

To determine the frequency of recurrence of Superficial Transitional Cell Carcinoma on first check cystoscopy after TURBT in six months at the Institute of Kidney Diseases Peshawar. All adult male and female patients with superficial transitional cell carcinoma of urinary bladder were evaluated and resection of the tumour was done and tissue sent for histopathology. Three months after resection, the patients were followed up by cystoscopy and findings noted. Recurrent growth, if present, was resected and sent for histopathology. All the above information were recorded and entered into a structured proforma. The data were analyzed through SPSS version 14 and results were presented in the form of tables and graphs. Our study included 41 patients. 33 [80.5%] were males and 8 [19.5%] females. The age rangedfrom 28 to 85 years with a mean of 59.22 +/- 11.47 years. The presenting T-stage was pTa in 11 [26.8%] patients and pT1 in 30 [73.2%] patients. The presenting histological grade was G-I in 16 [39%], G-II in10 [24.4%] and G-III in 15 [36.6%] patients. On first check cystoscopy, 28 [68.3%] patients showed recurrence while the rest, i.e. 13 [31.7%], showed disease free status. Out of 28 cases with recurrence, 2[4.9%] showed pTa and 26 [63.4%] showed pT1. The recurrence of histological G-I, G-II and G-III were 5, 8 and 15 respectively. Recurrence of superficial TCC at first check cystoscopy is high and has a predictive value for future recurrence of the disease

Biological screening of Scrophularia nodosa extract and its fractions

Biological screening of Scrophularia nodosa crude extract and its fractions [hexane, chloroform, ethyl-acetate, n-butanol and aqueous] was carried out on phytotoxicity, cytotoxicity, antibacterial, antifungal and analgesic activities. Crude extract and its fractions produced 50-100% phytotoxicity at 1000 micro g/ml concentration whereas 25-77% phytotoxicity was observed at 10 micro g/ml concentration. The fractions exhibited significant antibacterial and antifungal effects. The non-toxic results of this plant were recorded in Brine Shrimps Bioassay method at all concentrations. Similarly no significant insecticidal activity was observed in crude extracts and fractions. Analgesic activity results of S. nodosa in mice were found highly significant in crude extract as compared to fractions. In writhing test crude extract at 500 mg/kg showed 65.6% highest inhibitory response in mice

Pharmacological and biological evaluation of extracts from Gratiola officinalis L. [Scrophulariaceae]

The crude extract of Gratiola officinalis and its n-hexane, chloroform, ethyl acetate, n-butanol and aqueous fractions were subjected to biological [Brine Shrimp Bioassay, Insecticidal and Phytotoxicity/Cytotoxic] and neuropharmacological [Head dip, Open field Forced swimming test, Sodium pentothal induced sleep] activities. Results obtained in this study indicated that at high concentration dose [1000microg/ml], all test samples showed 60-95% phytotoxicity. In crude extract, n-butanol and aqueous fractions produced more than 85% phytotoxicity. While low concentration [10microg/ml] dose showed 25-28% phytotoxicity in all test samples. The crude extract was devoid of any effect against the growth of Callosbruchus analis and Tribolium castaneum and caused 10 mortality of Rhyzopertha dominica. n-Hexane, chloroform, ethylacetate, n-butanol and aqueous fractions caused 50, 30, 40, 10 and 20% mortality respectively of C. analis where as chloroform, ethyl-acetate, aqueous and crude extract, n-hexane, ethyl-acetate fractions also caused low mortality [10%] of Tribolium castaneum and Rhyzopertha dominica respectively. In cytotoxic assay at 1000microg/ml concentration, n-butanol fraction produced 36.7% and the crude extract produced 13.3% mortality of brine shrimp, its aqueous fraction was inactive at all concentrations. The results of head dip, open field, mobility time and Pentothal Na induced sleep indicated that crude extract, n-butanol and ethylacetate fractions of G. officinalis had mild sedative effect. However aqueous fraction was found to produce a significant decrease in motor activities and potentiated the duration of sleep

Endoscopy in rhinolithiasis

Rhinolith is a stone like nasal mass uncommon in children and adolescent. Diagnosis of rhinolithiasis may be difficult because of the possibility of varying clinical presentations. We report 2 cases in adults. The first was 23 years old female having unilateral nasal obstruction, cacosmia and occasional blood stained nasal discharge. The second case was that of a 47 years old male having unilateral foul smelling nasal discharge, progressive unilateral nasal obstruction, anosmia and atypical facial pain. Both were diagnosed on anterior rhinoscopy and rigid endoscopic examination of nose. Radiological evaluation of nose and paranasal sinuses were performed to confirm the diagnosis. These rhinoliths were removed using zero degree rigid nasal endoscope. Salient features of such large rhinoliths and the role of rigid endoscope in the diagnosis and treatment are discussed briefly enabling the attending physician to be aware of this infrequent entity in adults which requires high index of suspicion

Rhinosporidiosis

Rhinosporidiosis is chronic granulomatous parasitic infection caused by Rhinosporidium seeberi. The organism is now classified under mesomycetozoa as a parasite. It predominantly affects mucous membrane of nose and nasopharynx but other sites are also involved. It is non-contagious sporadic disease which is notorious for its high rate of recurrence and vascularity. We report a 32 years old Indian male who presented in outpatient department of Rafha Central Hospital with complaint of recurrent epistaxis, intermittent left nasal obstruction and pedunculated fragile mass coming out from left nostril after forceful blowing of nose. Diagnosis was established by histopathology of partially excised lesion with high index of suspicion for rhinosporidiosis due to strawberry-like appearance of fragile polypoidal mass. The treatment involved total surgical excision of the lesion with electrocoagulation of the base using rigid nasal endoscope. This case is reported due to its rarity and high recurrence after surgical excision

Spasmolytic effects of Scrophularia nodosa extract on isolated rabbit intestine

Scrophularia nodosa [figwort], an indigenous medicinal plant grows in moist and cultivated waste ground. It contains saponins, cardioactive glycosides, flavonoids, resin, sugar and organic acids. It is traditionally used for anti-inflammatory purpose and in skin disorders. It has diuretic and cardiac stimulant properties. The present studies were carried out on crude extract of Scrophularia nodosa and its n-hexane, chloroform, ethyl acetate, n-butanol and aqueous fractions. During phytochemical studies seven known compounds of flavonoid nature were isolated from the chloroform fraction of crude extract of S. nodosa. The structures of these compounds were elucidated by spectroscopic [UV, IR, Mass [EIMS, HREIMS] and NMR [[1]H-NMR, [13]C-NMR, DEPT, and [1]H-[1]H, COSY, HMQC, HMBC and NOESY] techniques. Compound 1 was identified as 5, 4'-hydroxy-3, 6, 7-trimethoxyflavone, compound 2 as 5-hydroxy-3,6,7,4'-tetramethoxyflavone, compound 3 as Centaurein, compound 4 as 5-hydroxy-7,8,2',3',4'-pentamethoxyflavone [Serpyllin], compound 5 as Kaempferol 7-O- alpha -L-rhamnopyranoside, compound 6 as sakuranetin 4'-O [6"-O-alpha-Lrhamnopyranosyl]-beta-D-glucopyranoside [Vitexoside] and compound 7 as Spinoside. Crude extract and its fractions were tested on isolated rabbit intestine [in vitro] for their effects. The results of crude extract and its fractions in different doses showed the decrease in normal movement of the smooth muscles of rabbit intestine [jejunum]. The chloroform fraction showed maximum relaxant effect [77.37%] at 15mg/ml dose and aqueous fraction showed 38.56% spasmogenic response which was not present in the crude extract. Further study was carried out on different fractions to investigate the possible mechanism of action of S. nodosa extract. For this purpose spasmolytic effect of different fractions were compared with agonist and antagonist activities of standard drugs including adrenaline, atropine andacetylcholine [1x10[-2], 1x10[-4] and 10[-6] M conc.]. It is concluded that the chemical constituents present in S. nodosa having spasmolytic action are possibly acting through muscarinic receptors

Surgical site infection in elective sugery

To determine the causes and rate of surgical rate site infection [SSI]. Descriptive study. Surgical Unit II, Peoples Medical College and Hospital Nawabshah, from August 2009 to July 2010. Patients of different wound categories were included in this study and followed up for 30 days postoperatively. The wound infection which occurred within 30 days of operation was considered as surgical site infection. The diagnosis of infection was made on clinical rather than on bacteriological basis. Total number of patients was 300. Out of 212 patients from 12-50 years of age 14 [6.6%] developed SSI, whereas among 88 patients above 50 years, 14 [15.9%] developed wound infection. Most patients had body mass index between 20-28 kg/m[2]. Obesity was more common in females and BMI more than 35 kg/m[2] appeared to be a risk factor for SSI. Most common organisms were Staphylococcus aureus [50%], E. coli [14.3%], Klebsiella [14.3%] and other organisms found in 5-7% cases. Wound infection occurred in 28 [9.3%] patients. The achievable preventive measures should be taken to save the economic burden on patient, hospital and community as a whole

Postoperative outcome of minicholecystectomy and conventional cholecystectomy

To investigate the effects of different incision lengths following elective Cholecystectomy Prospective cross sectional, comparative study. This study was conducted at Surgical Unit II Peoples Medical University of Health Sciences Nawabshah from January 2009 to December 2010. In this study, 100 patients were taken as a sample size. In this study, sampling technique was Purposive, non probability. Main Outcome Measures were postoperative pain, Length of hospital stay, Cost of treatment, Time until return to work, Complications. Most surgeons still prefer the open approach when dealing with common bile duct stone. The technique of open Cholecystectomy might compete with laparoscopic Cholecystectomy in avoiding prolonged operating time and major expenses. Mini-Cholecystectomy requires less operating time, less postoperative pain, and early return to work than standard conventional open Cholecystectorny. There were 37 female and 13 male in MC group, and 42 female and 8 male in CC group. Median age was 55 [range 20-80 years] median BMI was 23 [range 17-30]. 15 patients in MC and 18 patients in CC group were with acutely inflamed gall bladder and remaining were with chronic gall stone disease. In MC group of 50 patients the mean hospital stay was 2.5 days with shortest 1 day and longest 5 days. 35 [70%] patients were discharged within 2 days 10[20%] on 3[rd] and 5 patients remained for 5 days. Minicholecystectomy offers less pain, earlier recovery and better cosmetic results than conventional open Cholecystectomy

Role of investigations and Alvarado score in acute appendicitis at peoples medical college hospital Nawabshah

Role of investigations and Alvarado score in acute appendicitis at Peoples Medical College Hospital Nawabshah. Prospective observational study. Two years study from October 2008 to November 2010. Was conducted in Peoples Medical College Nawabshah. The study comprises 50 patients all were admitted from OPD [Out Patients Department] and COD [Casulty Department]. The patients were evaluated fully after history, clinical examination and specific investigation, blood CP, X-Ray abdomen, supin and erect posture, X-Ray KUB, ultra sound of abdomen and general assessment. All Patients of pain in right iliac fossa included all patients were manage on the basis of Alvarado score, Complete Blood Picture and Ultra Sound report. In this study 50 patients of acute appendicitis in which 25 were female and 25 were male. The maximum of patients were in age group 15 to 40 years. Peak age group 25 years. Out of 50 patients 42 patients were present leucocytosis. On the behalf of Ultra sound report 38 patients were diagnose acute appendicitis. 10 patients were diagnose perforated appendix, 2 patients were diagnose appendicular abscess. 8 patients were present Alvarado score 3 to 4.30 patients were present Alvarado score 6-7, 12 patients were present Alvarado score 8-9, Patients were operated through procedure of appendectomy then tissue sent for histopathology. Acute appendicitis is a common cause of acute abdomen. Anorexia, migrating pain, tenderness and rebound tenderness are evidence of acute appendicitis

Frequency of malignancy in benign enlarge prostate at peoples medical college hospital Nawabshah

To determine the frequency of Malignancy in Benign enlarge prostate. Prospective observational study: Two years study from October 2008 to October 2010. Was conducted in Peoples Medical College Nawabshah. The study comprises 50 patients all were admitted from OPD [Out Patients Department]. The patients were evaluated fully after history, clinical examination DRE and specific investigation of PSA X-ray Lumbo sacral spine Trans rectal, Endo luminal ultra sound flow metery Trans rectal biopsy C.T scan and Bone scan and General assessment. All Patients with enlarged prostate included out of 50 patients 48 patients under went surgery and tissue sent for histopathology. In this study of 50 patients of enlarge prostate total number of patients were in age group 55 to 75 years, Out of 50 patients 9 patients suspected malignant on the basis of DRE. But PSA will raise in 7 patients. Regarding the histopathology the results 7 patients showed malignancy adeno carcinoma. Prostate carcinoma more common enlarged prostate as compared to fibro tic prostate

Early wound complications following modified radical mastectomy with axillary clearance

To identify the pattern of early wound complications after modified radical mastectomy with axillary clearance and to determine the risk factors predisposing to these complications. Descriptive case series. Surgical Unit II, Peoples University of Medical and Health Sciences Nawabshah, from January 2008 to December 2010. One hundred and fifty patients were included in this study who underwent Patey's modified radical mastectomy with axillary clearance These patients were followed up for one month postoperatively in OPD. Age of the patients was between 30-80 years. Seroma formation was the most common complication seen in 50 [33.3%] patients, wound infection in 15 [10%] and flap necrosis in 4 [2.6%] cases. More than 1000 ml discharge in drain was noted in 30 patients. Wound infection found more in patients with prolonged operation time [>150 minutes] and in those with seroma formation. Seroma formation was the most common complication as well predictive factor for wound infection and flap necrosis

Frequency of malignancy in solitary nodule and multinodular goiter

To determine the frequency of malignancy in solitary nodule as well as multinodular goiter. Prospective observational study. Two years study from November 2006 to October 2008 was conducted in Liaquat University Hospital, Jamshoro and People's Medical College Hospital, Nawabshah. The study comprises 50 patients. All were admitted from OPD of both hospitals. The patients were evaluated fully after history and examinations and specific investigations of thyroid profile, scan, FNAC, indirect laryngoscopey and general assessment. All patients with solitary nodule and multinodular goiter included. Out of 50 patients 49 underwent surgery and tissue sent for histopathology. In this study of 50 patients of nodular goiter, 42 [84%] were female and 8 [16%] were male. The maximum number of patients were in age group 16-70 years. In 27 patients of multinodular 24 were female and 3 male. In 23 patients of solitary nodule 18 were female and 5 male. Regarding the histopathological results 10 [20%] patients showed malignancy, 8 [16%] in solitary nodules and 2 [4%] in multinodular goiter. Papillary.carcinoma seen in 7 [14%], follicular carcinoma in 2 [4%] and 1 [2%] as anaplastic carcinoma. Thyroid malignancy more common in solitary nodule as compared to multinodular goiter

Outcome and management of abdominal trauma at Liaquat University Hospital Jamshoro and Peoples Medical College Nawabshah

Out come and Management of Abdominal Trauma. Prospective observational study. Two years study from September 2006 to December 2008. Was conducted in Liaquat University hospital Jamshoro and Peoples Medical College Nawabshah. The study comprises 50 patients all were admitted from COD [Casualty out Patient: Department] of both hospitals. The patients were evaluated fully after history, clinical examination and specific investigation of X-ray abdomen supine and erect posture ultra sound of Abdomen contrast C.T and D.P.L Diagnostic Peritoneal Levage and General assessment. Al Patients of abdominal trauma included out of 50 patients 46 [92%] Patients an Underwent surgery Laparotomy. In this study of 50 patients of penetrating abdominal trauma 42 [84%] were males and 8 [16%] were Females the maximum number of patients were in age group 16 to 7 years in 40 [80%] Patients had fire arm, were the 6 [12%] cases of stab injury while remaining were the 4 [8%] of Blunt Trauma. Small intestine was the commonest organ injured 13 [26%] fallowed by liver 12 [24%] large intestine 7 [14%], Splenic injury was 7 [14%], Stomach 6 [12%], pan crease in 3 [6%], renal 2[4%]. Abdominal trauma is a serous emergency after Penetrating injury compared Blunt trauma

Increased risk of carcinoma gall bladder in longstanding cases of cholelithiasis

To find out the incidence of carcinoma of gall bladder in longstanding cases of Cholelithiasis with history of more than 5 years. A prospective observational clinico-pathological study. Departments of surgery, Nawabshah Medical College Nawabshah. From March 2000 to Feb: 2005. Total 180 cases were included in the study among all the 520 cholecystectomies performed during this period, which were symptomatic proven cholelithiasis cases for past 5 years or more. Most patients were from rural area with urban rural ratio 30:70. All the specimens of removed gall bladder were examined histologically. Female to male ratio was 4:1 and age incidence was 5 1-72 years. Out of 180 cases included in the study 12 [6.6%] patients were of carcinoma of gall bladder with female to male ratio 3:1 and peak age incidence was 65 years. The longer duration of disease with gall stones increases the risk of carcinoma in gall bladder. The patient diagnosed cholelithiasis should be counseled for early operation and all the specimens of removed gall bladder should be examined histopathologacally

Scabies epidemic at Tando Muhammad Khan, Sindh

Scabies is the most common dermatosis as reported at District Hospital, Tando Muhammad Khan. Scabies has become an epidemic in the newly created District Tando Muhammad Khan previous Taluka of District Hyderabad, Sindh. To assess prevalence of scabies, to determine causes and hurdles in management of scabies. A hospital-based observational study was conducted at dermatological out-patient department of Government District Headquarter Hospital, Tando Muhammad Khan. Duration of study was six months from 1[st] January, 2007 to 30[th] June, 2007. All patients of scabies were included in the study irrespective of any concomitant disease. Patients were diagnosed clinically. During six months study period, 5484 [70.2%] patients of scabies were enrolled. Out of these, 3456 [63%] were males and 2028 [37%] females. 69% of adult males and 92% of adult females were illiterate. Over 75% adult patients belong to low socioeconomic group. Scabies was found to be very common among patients attending dermatology clinic at District Hospital, Tando Muhammad Khan. It is associated with poor hygiene, overcrowding, illiteracy and low socioeconomic conditions. Management of scabies requires special skills including health education and counseling

Frequency of Hepatitis B and C viral markers in patients of cirrhosis liver in the north west frontier province

To assess the frequency of hepatitis B and C viral markers in patients with cirrhosis liver. This descriptive case series was conducted in the Medical units of District Headquarter Hospital Daggar and Lady Reading Hospital Peshawar from January 2006 to December 2006 on 280 cirrhotic patients. All these patients were studied for hepatitis B and C viral markers. Out of 280 patients, 156 [55.7%] were males and 124 [44.3%] were female with age ranging from 14 to 75 years and mean age of 56.3 + 16.4 years. Out of 280 patients, 129 [46.07%] were positive for hepatitis C virus [HCV] antibodies. Seventy nine patients [28.21%] were positive for hepatitis B surface antigen [HBsAg]. Sixteen patients [5.71%] were positive for both HBsAg and anti HCV. Fifty six patients [20%] were negative for seromarkers of both hepatitis B and C viruses. It is evident form this study that Hepatitis C is a leading cause of cirrhosis in the North West Frontier Province of Pakistan, followed by HBV. Both the viruses account for at least three fourths of the patients with liver cirrhosis