A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

No abstract available.

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy

No abstract available.

Charcot-Marie-Tooth type 1A disease from patient to laboratory

Charcot-Marie-Tooth [CMT] disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies [HMSN]. The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and research work for the identification of a novel locus and for the treatment of CMT1A is going on. This review article was planned to gather information on CMT disease and updates on its treatment. National Center for Biotechnology Information [NCBI] and PubMed were searched for data retrieval. Molgen database, which is the exclusive site for CMT mutation, was the other source of articles. Different aspects of the CMT disease were compared. Advancements in the finding of the causative gene, discovery of the novel Loci are the current issues in this regard. CMT disease is incurable, but researchers are trying to get some benefits from different natural compounds and several therapeutic agents. Various groups are working on the treatment projects of CMT1A. Major step forward in CMT research was taken in 2004 when ascorbic acid was used for transgenic mice treatment. Gene therapy for constant neurotrophin-3 [NT-3] delivery by secretion by muscle cells for the CMT1A is also one of the possible treatments under trial

Traumatic duodenal injuries, surgical management

Objectives: The purpose of this study is to share our surgical experience of duodenal injuries management and to evaluate outcome of different surgical procedures

Study Design: case series

Place and Duration of Study: Surgical emergency Allied hospital Faisalabad from 01 June 2012 to 31 may 2014

Methods: All patients with traumatic duodenal injuries were included. Data included patient's profile, date of admission, mechanism of injury, grade of duodenal injury, type of procedure, and outcome

Results: Total number of cases in period under study was 29. There were 26 [89.7%] male and 3 [10.3%] female and mean age of 27.8 years. 62% cases were due to blunt abdominal trauma commonly road traffic accident and 38% penetrating injuries predominantly firearm injuries. Second part of duodenum was found to be the most commonly injured site in 55.17% case and grade II injuries accounted for 65.52% of total injuries. The most common operative procedure performed was Primary repair. Postoperatively 10.34% cases developed duodenal fistula, and the overall morbidity was found to be 34.48% and mortality 31%

Conclusion: It is concluded that blunt trauma abdomen is common cause of duodenal injury in our setup. Most injuries can be managed by primary repair. Early diagnosis and surgical intervention is most important factor for good results

Relation of breast cancer with parity and breastfeeding

Objective: The purpose of this study was to evaluate the relationship of breast cancer with parity and breastfeeding in local settings since no such studies have been carried out previously. The results of such study can provide data for comparison from other parts of country and international research

Study Design: Observational study

Place and Duration: Department of Surgery Allied Hospital Faisalabad between October 2013 and October 2014

Methods: A sample of 500 breast cancer patients diagnosed clinically and histopathologically was included in the study after informed consent. Patients were interviewed using a questionnaire. We observed the variables of age, parity, menstrual history and months of breastfeeding for each child. Analysis was done using SPSS version 12. 0

Results: In present study, 500 patients of breast cancer were included with age ranging from 28 years to 80 years. Most common age group was 40 to 50 years. 91.8% females with breast cancer were multiparous and all 91.8% females gave history of breastfeeding their children. 48% of the females breastfed for more than 5 years, 40% of them for 1to5 years and 3.8% of them for less than 1 year. Only 8.2% females who were either unmarried or had no issues did not breastfeed at all

Conclusion: In our local settings, multiparity and breastfeeding do not alter the risk of breast cancer and thus other risk factors must be studied

Comparison of excision and primary closure [primary closure] versus modified Limberg flap [modified limberg flap] repair in the treatment of sacrococcygeal pilonidal sinus disease [sacrococcygeal pilonidal sinus disease]

Objective: To compare excision with primary closure and excision with modified limberg flap repair in the treatment of sacrococcygeal pilonidal sinus disease

Design: Quasi experimental study. Setting and duration of study: Surgical Unit-I at Allied Hospital, PMC, Faisalabad, from April 2011 to July 2012

Methods: A total of 60 patients with sacrococcygeal pilonidal sinus disease, 30 underwent Excision with primary closure, and 30 had Excision of sinus with modified limberg flap repair

Results: Though modified limberg flap group was associated with comparatively longer operative time [48.57 vs 32.57 minutes] and longer hospital stay [5.90 vs 4.17 days]. However, post op analgesic requirement in either groups was comparable [33.3% vs 40%]. There was a significant difference in recurrence rate in both groups [20% vs 3.3%]

Conclusion: For the surgical treatment of sacrococcygeal pilonidal sinus disease, modified limberg flap repair is a better technique due to less chances of recurrences, in maiaging sacrococcygeal pilonidal sinus disease

Pancreatic trauma; 3 years experience at allied hospital, Faisalabad

Introduction: Pancreatic injuries remain a clinicalenigma. Minor injuries are easy to treat but ifmissed are associated with significant morbidity and mortality. Blunt trauma to upper abdomen is oftenassociated with pancreatic injury. Isolated injury topancreas is rare. There are different protocols ofmanaging the pancreatic trauma. In this article weare presenting different cases of pancreatic traumamanaged by us according to severity of injury

Objectives: 1.To define comonest mode ofpresentation of patients with pancreatic trauma. 2.To suggest appropriate investigations in suspectedpancreatic injuries. 3. To suggest the treatmentstrategy in different types of pancreatic injuries

Study Design: Descriptive prospective studyconducted in Surgical Unit III, Allied HospitalFaisalabad from Feb 2008 to Dec 2011

Results:Forty eight [48] patients [10 children, 38 adults]included with median age 11 and 35 respectively.Male to female ratio 5:1. Blunt trauma wasmechanism of injury in 62.5% of cases mainly dueto road traffic accident. Serum amylase was raisedin 59% of cases. CT scan was diagnostic in most ofthe hemodynamically stable patients. Roux-en-YPancreatojejunostmy, distal pancreatectomy andWhipple's procedure were performed dependingupon the grade of injury. Postoperative pancreaticfistula formed in 26% of cases, which was managedconservatively. Overall mortality was 37.5%

Conclusion: Pancreatic injuries commonly occurdue to blunt abdominal trauma. High index ofclinical suspicion is required for timely decionmaking. CT Scan is useful in hemodynamicallystable patients. Early diagnosis and timelymanagement according to the severity of injuryimproves morbidity and mortality

Total thyroidectomy in benign multinodular goitre

Total thyroidectomy is the standard surgical procedure for thyroid malignancy. Many surgeons do not perform total thyroidectomy in cases of Benign Multinodular Goitre [BMNG] owing to the fear of recurrent laryngeal nerve [RLN] damage and postoperative risk of hypoparathyroidism. Long term thyroxin therapy with its side effects is an additional factor. We conducted this study to assess total thyroidectomy as a safe option for managing BMNG. Surgical Unit-I and Surgical Unit-Ill, Allied Hospital, a tertiary care hospital affiliated with Punjab Medical College, Faisalabad. Duration of study was two years from January 2008 to January 2010. A total number of 196 consecutive patients undergoing total thyroidectomy [TT] for BMNG were included in this study. Patients with thyroid malignancy or suspicion of malignancy were excluded. Preoperative assessment included baseline biochemical workup and thyroid function tests. Preoperative serum calcium and indirect laryngoscopy [IDL] was performed in all the patients. Postoperative assessment included serum calcium estimation after 24 hrs and 07 days of TT. IDL was considered in any patient with suspected RLN palsy. Drain output was recorded at 24 hrs after TT. Total number of 196 patients were included with 49 male and 147 female [male to female ratio of 1:3]. Age ranged from 14-60 yrs [mean:37 yrs]. One thirty six patients undergoing TT had non-toxic MNG while 60 patients had toxic MNG controlled on antithyroid drugs. Drain output ranged from 10-100 ml in 24 hrs. No patient developed permanent RLN palsy. Seven patients [3.5%] had temporary unilateral RLN palsy. Fifty six patients [28.5%] developed temporary hypocalcemia. None of the patients developed permanent hypocalcemia. Two patients developed seroma formation which was aspirated with wide bored needle. Two patients got superficial wound infection which recovered with oral antibiotics. Postoperative hemorrhage requiring re-exploration did not occur in any patient. Postoperative stay ranged from 2-4 days. Most of the patients were discharged 48 hrs after surgery. There was no postoperative mortality. Total Thyroidectomy is a safe method for treating Benign Multinodular Goitre in experienced hands with low postoperative complications and morbidity

Laparoscopic orchidopexy

Case series. Pediatric surgical department of B V Hospital [QAMC] Bahawalpur and Allied Hospital Faisalabad. From April 2005 to Mar 2007. Cryptorchidism is most frequent presentation in pediatric population. Laparoscopy has become [Gold Standard] in the diagnosis and therapy of nonpalpable undescended testis. We present our two year experience in the management of 40 cases at two centers. The age of the patients ranged from 9 months to 12 years. Laparoscopy was done to localize the testis prior to surgery. Thirty four patients underwent one stage laparoscopic orchidopexy, 7 patients had open orchidopexy and 3 needed two stage Fowler-Stephen orchiodopexy. Laparoscopy is a valuable tool in both diagnosis and treatment of nonpalpable testis

Ultrasound, Ct-scan, and laparoscopy, diagnostic observations on non-palpable testis

To evaluate the comparative diagnostic efficacy of Ultrasound, CT-Scan, and Laparoscopy in the diagnosis of non-palpable undescended testes in pediatric patients. Comparative study. Surgical and pediatric surgical department of B V Hospital [QAMC] Bahawalpur and Allied Hospital Faisalabad. From April 2006 to April 2007. A total forty boys with non palpable testis were subjected to Ultrasound, CT-Scan and diagnostic laparoscopy in a period of one year. The patients above 12 years and with cardiovascular anomalies were excluded from the study. Laparoscopy was performed under general anesthesia and findings were compared with Ultrasound and CT-Scan. Sensitivity and specificity of each were calculated. Diagnostic accuracy of Ultrasound was 25%, CT-Scan was 64% and Laparoscopy was 100%. Sensitivity was found to be 20%, 63% and 100% and specificity was 10%. 50% and 100% for Ultrasound, CT-Scan and Laparoscopy, respectively. Diagnostic laparoscopy is far more superior as compared to Ultrasound and CT-Scan in the diagnosis of non palpable testis

Frequency of risk factors for breast cancer

[awaissabir2000@yahoo.com] To evaluate the frequency of risk factors for breast cancer. Main outcome measures were the above-mentioned risk factors in 50 diagnosed cases of breast cancer. Descriptive study. Surgical Unit-III, Nishter Hospital Multan. 50 female patients with proven diagnosis of breast cancer were evaluated with special emphasis on etiological risk factors. Findings were recorded in the proforma and results obtained were compared with national and international studies. 60% patients were in age group of 35-55 years, 50% had age of menarche 11 years, age of first full term pregnancy was between 15-25 years in 64% cases 60% patients belonged to lower middle class. 8% patients had family history of breast cancer. 56% patients had age at menopause above 50 years. No patient gave past history of breast cancer. It was concluded that in area of Multan, breast cancer is more common in patients having age between 35-55 years, early age of menarche, lower middle socio-economic status and late menopause

Risk factors in the causation of duodenal ulcer perforation in region of Southern Punjab

Despite the wide spread use of gastric antisecretory agents and eradication therapy, the incidence of perforation of duodenal ulcer remains more or less the same [5 10%]. There are certain well-defined risk factors that indicate, an increased liability to develop the disease The association of various probable risk factors such as H. Pylon, inadequate dietary intake, smoking, alcohol, ABO blood group and non-steroidal anti-inflammatory drugs has been studied. To evaluate the probable risk factors for perforation of duodenal ulcer, highlighting any prevalent one in the occurrence of perforation in our region. Study design:-Descriptive/Retrospective study. 3[rd] surgical unit Nishter Hospital Multan. Subjects:-All the patients having DU perforation were included. 62 patients with DU perforation were evaluated with special emphasis on etiological risk factors. Findings were recorded in the proforma and results obtained were compared with national and international studies. Stress, Smoking, NSAIDs and H. Pylori are the important factors in the causation of duodenal ulcer perforation. In our series stress is involved in 80% of cases. Followed by smoking [69%], H. Pylon [64%] and NSAIDs [55%]. Stress, smoking; H-Pylon infection and NSAIDS abuse are the factors in southern Punjab which cause perforation of duodenal ulcer

Application of alvarado scoring system in diagnosis of acute appendicitis

Appendicitis is an important differential diagnosis in patients with right iliac fossa pain. Acute appendicitis is one of the most common surgical emergencies with a life time prevalence of approximately 1 in 7[2]. To analyze the Alvarado score in relation to the diagnosis and management of acute appendicitis. This study was carried out in Surgical Unit III, Nishtar Medical College/hospital Multan. The study period was from January 2003 to December 2005. Sample size consisted of 100 patients. All these patients presented in A and E department Nishtar Medical College. Hospital Multan. Patients of any age group and both genders presenting to the emergency department with pain in right lower quadrant of abdomen were included in the study. Patients with presentation of urological, gynecological or surgical problems other than appendicitis and especially patients with mass in right iliac fossa were excluded from the study. Only 11 patients had increased severity of symptoms with score 7 or more on reevaluation with in first 24 hours. These 11 patients underwent appendicectomy. Operative findings and histopathological reports showed that 6 patients had inflammed appendix and the remaining 5 patients had normal appendix. Total number of surgeries performed in our study was 73 [73%]. Among these patients 42 were males and 31 were female. Operative findings and histopathological reports showed that 64 patients [87.68%] had inflammed appendix. Negative appendicectomy rate in our study was 12.32%. In our study we found the positive predictive value for Alvarado Score is 87%. The Alvarado score can be used as an objective criterion in selecting patients for admission. Its application improves diagnostic accuracy and consequently reduces negative exploration and complication rates

Sentinal lymph node biopsy in early carcinoma breast with blue dye

The aim of this study was to find out the sentinel lymph node involvement in early carcinoma of breast and their specificity and sensitivity. Patients included were having unifocal breast cancer [proven by FNAC or excision biopsy] of <5cm size without clinically palpable axillary lymph nodes. After anesthetizing the patient, 5 ml of 1% isosulfan blue dye was injected into the breast parenchyma surrounding the tumour. The breast was gently compressed and massaged for 5 minutes to augment the action of the lymphatic pump and promote passage of blue dye to the axilla. After this a 3-4 cm transverse incision was made just below the hair-line of the axilla. The first blue lymph node was identified and dissected out. Then mastectomy was performed and axillary lymph nodes dissection was completed. Stained and non-stained lymph nodes as well as breast tissue were sent separately for histopathology. All the 30 patients underwent mastectomy with axillary clearance. Average size of tumour was 3.6 cm [1.5-4cm]. Average number of SLN mapped was 1.6 [1-3]. In all the cases sentinel lymph nodes were situated at level I. SLN were having metastasis in 18 patients and in 2 patients SLN was the only nodes having metastatic deposits. SLN identification rate was 83% with 100% specificity and 94.7% sensitivity. However, false negative results were obtained in only 5.3% cases with 06 true negatives. The tumour was located in upper outer quadrant in 87.5% identified cases. Sensitivity and specificity of SLN biopsy in the present study was 89% and 100% respectively. The sentinel lymph node biopsy is a new, promising, minimally invasive procedure, which predicts nodal status with minimal morbidity. Axillary lymph node dissection should be reserved for patients with positive sentinel lymph node biopsies