Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness

Objective: In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parents of consanguineous marriage

Methods: DNA was extracted from the blood through Qiagen kit. Paired-end sequencing library was prepared according to protocol of Illumina's TruSight Rapid Capture kit and TruSight Inherited Disease Panel. Library was normalized and used for Next Generation Sequencing through MiSeq. NGS data were analyzed using various bioinformatics tools

Results: Both brothers were found to have novel deleterious mutation in MYO7A [c.2476G>A] while the younger brother had additional novel deleterious mutation in TH [c.43C>T] and EVC2 [c.2614C>T] genes

Conclusion: It is concluded that in addition to novel mutations in MYO7A, TH and EVC2, the CDH23 and GJB2 can also be responsible for deafness in the family with consanguineous marriages.

Patriarchy in family care-giving: experiences of families of children with intellectual disability in Pakistan

Objective: To know the effects of children with intellectual disability [ID] on families in Pakistan with special focus on the experiences of mothers living in nuclear and joint families

Methodology: This was qualitative study in which qualitative methods were employed for this study. Data was collected from parents and family members of children with intellectually disability. Participants from the diverse socio-economic features were selected from the three rehabilitation centres for children with intellectual and physical disability in Peshawar and Haripur districts of Khyber Pakhtunkhwa province. A total of 58 respondents were interviewed including 30 in-depth individual interviews [IDIs] with parents having children with ID and 4 Focus Group Discussions [FGDs] with a total of 28 parents [7 participants in each FGD]. Both mothers and fathers participated in this study for ensuring equal gender ratio

Results: Women in the families were suffering more as compare to men due to socially assigned role of primary care of the children. Women were facing social exclusion, stress/ fatigue due to role strain, rejection in the form of family breakdown and work-family conflict due to gender imbalance in role performances. Moreover, families were also prone to displacements and social hazards like beggary, child labour and drop out of normal female children from schools due poor institutional role in child support and rehabilitation

Conclusion: Patriarchy promotes uneven distribution of roles for men and women in the families having children with ID which causes more agonies for mothers and other female members of the house as compared to male members of the family

Early assessment of outcome by ST segment elevation after acute myocardial infarction

Early assessment of outcome by ST segment elevation after acute myocardial infarction. Observational study. This study was conducted at Shaheena Jamil Teaching Hospital Abbotabad and Islam Teaching Hospital Sialkot from 1[st] January 2012 to 30[th] April 2013. 160 cases of acute myocardial infarction were randomly selected from the patients attending to OPD and emergency of Shaheena Jamil Teaching Hospital Abbotabad and Islam Teaching Hospital Sialkot and their peripheral Districts. During the study period, 160 patients met the criteria for inclusion and were given thrombolytic therapy. Out of these, 136 [85%] patients were males and 24 [15%] patients were females. Mean age at the time of presentation was 51.0 tears. 91 [56.8] patients had acute anterior myocardial infarction, 58 [36.2%] had acute inferior myocardial infarction and 11 [6.8%] patients had miscellaneous findings. Average time lapse was 4.03 hours from onset of the chest pain to administration of streptokinase. Group A' [complete ST segment resolution] included 67 [41.8%] patients while there were 49 [30.6%] patients in group 'B' [partial ST segment resolution] and 44 [27.5%] patients on group 'C' [no ST segment resolution]. The ST segment was raised in all of the acute myocardial infarction cases. But ST segment was resolved in patients in which streptokinase injection was given 4 to 5 hours back

Efficacy of intrasheath steroid injection in treating de quervain's disease

To determine the effectiveness of Intrasheath steroid injection in treating de Quervairfs disease. Case series observational study. Outpatient Department of Orthopedics BBS [DHQ] Teaching Hospital Abbottabad from April 2006 to Sept 2009 including a period of follow up of eighteen months. Eighty patients with de Quervairfs disease were diagnosed on the basis of positive Finkelsteirfs test and presence of severe pain for more than four weeks. These patients were given intrasheath injections of 40 mg Methyl Prednisolone mixed with one ml of lignocaine 2% in the first dorsal compartment of wrist. Patients with trauma, infection and rheumatoid arthritis were excluded from study. Seventy two patients i.e., 90% were cured and out of them 75% required only one injection .Only two cases underwent surgical release. Intrasheath steroid injection is a safe, very useful and cost effective method in treating de Quervairfs disease

Multi nodular goiter; frequency of malignancy and its histopathological types. a tertiary care hospital experience

I. To determine the frequency of malignancy in multi nodular goiter. II. To determine the histopathological types. This is a prospective study. Surgical department of Foundation Hospital Rawalpindi and associated Teaching Hospital of Frontier Medical College Abbottabad. Aug. 2002 to Aug. 2007. One hundred patients with Multi nodular were included in this study. Patient with diffuse goiter, solitary nodules, patient operated somewhere else and suspected cases of malignancy were excluded from the study. Tissue were sent to Armed Force Institute for histopathological examination. Patients were followed for 2 weeks after surgery with histopathological report, all the preoperative and postoperative findings were recorded in detail. Data was analyzed byusing SPSS 14. Majority of patients studied, belonged to Azad Kashmir and Gilgit which are among the known endemic regions for goitre in Pakistan and other from Chakwal and Jhelum. Histopathology revealed 96 [96%] patients with multi nodular goiter, 3 [3%] papillary carcinoma and 1 [1%] Follicular carcinoma. Multinodularity of the goitre should not be considered as low risk of malignancy and delay for surgical intervention. Changes in the size of gland, the appearance of new and hard nodules or cervical lymphadenopathy may indicate malignant change and prompt indication for surgery

Lump breast; role of FNAC in diagnosis

Lump breast is a fairly common presenting complaint for which patient seeks medical advice and becomes anxious about the diagnosis. Fine needle aspiration cytology [FNAC] for the diagnosis of lump breast has been proved as a simple, rapid and economical procedure. The present study was done to evaluate the diagnostic accuracy of fine lump breast in our set-up compared with open biopsy. The study was conducted in surgical department of Nishtar hospital Multan and Frontier Medical College Abbottabad. One hundred female patients with lump breast were selected for the study and their medical history was recorded. The age range was 15-65 years. All of the patients under went FNAC of the lump breast followed by open biopsy for comparison. The results reveal that this study shows a sensitivity of 87.5% for FNAC to pick malignant lesions and specificity of 82.4% while over all diagnostic accuracy 84%. Fine needle aspiration cytology is safe, easy, cheap and accurate procedure. Its sensitivity and specificity is fairly high and is a good alternative to open biopsy. FNAC should be routinely used and open biopsy should be performed in doubtful cases only

Aspiration and tetracycline sclerotherapy of primary vaginal hydrocoele of testis in adults

Primary Vaginal Hydrocoele of Testis is a common condition which is primarily treated surgically. Many patients with Hydrocoele of testis are either not willing or are unfit for surgery. This study was done to know the safety, efficacy and outcome of tetracycline induced sclerotherapy of Primary Vaginal Hydrocoele of Testis in adults. This quasi experimental study was done in Shahina Jamil Hospital, attached with Frontier Medical College and Ayub Teaching Hospital, Abbottabad from March 2006 to April, 2007. Thirty-seven patients with primary vaginal hydrocoele were included in the study. Aspiration and instillation of Tetracycline was done after spermatic cord block with 2% lignocaine. Procedure time, Peri and Post-procedure complications, number of injections for cure and patients' satisfaction with the procedure were recorded. Patients were discharged home 3 to 4 hours after the procedure and followed up after one week, one month, three months and six months. Direct admission and re-admissions were recorded. The mean age of patients was 47 years. Mean procedure time was 45 minutes. All patients were cured. Mild postprocedure pain occurred in 12 [40%], moderate pain in 14 [46%] patients and severe pain in 4 [13.3%] patients. No patient developed haematoma or local infection. One patient [3.3%] had micturition problem. Two [6.6%] patients had minimal recurrence. One injection was sufficient for cure in all patients. 28 [93%] patients were satisfied while 2 [6.6%] patients were not satisfied with this procedure. No patient was admitted in the hospital after the procedure. Aspiration and injection of tetracycline in Primary vaginal Hydrocoele of Testis in adults is safe, effective and very economical procedure

Diabetic foot ulcer grades; correlation with ankle brachial pressure index

Diabetic foot is one of the most common complications of diabetes mellitus. The management and out come is very much dependent on proper assessment of foot ulcer severity. To asses severity of diabetic foot and to find a correlation between Ankle Brachial Pressure Index [ABPI] and foot ulcer grades. Prospective study. Jan 2001 to Dec 2003. Patients with diabetic foot ulcers from all the medical and surgical units of Ayub teaching hospital Abbottabad were enrolled in the study. Ankle Brachial Pressure Index [ABPI] levels revealed 5 [5.8%] with ABPI < 0.5 for grade V, 8 patients [9.3%] ABPI 0.5 - 0.89 for grade IV, 18 patients [20.9%] ABPI 0.9-1 for grade III, 44 [51.2%] ABPI 0.9-1 for grade II, and 9 patients [10.5%] ABPI > 1 for grade I diabetic foot ulcer. This data was analyzed via SPSS version 8.0. Ankle brachial pressure index is a good diagnostic tool to assess the lower extremity arterial disease in diabetic foot patients. ABPI readings should be cautiously interpreted as these may be falsely elevated in atherosclerotic patients

Diabetes Mellitus type 2; assessment of body mass index [BMI]

To assess the body mass index in patients with diabetes mellitus type 2 in a tertiary care hospital. Analytical [cross-sectional] study. The outpatient clinic at Shahina Jamil Trust Hospital Abbottabad from November 2006 to April 2007. One hundred patients seen in the outpatient clinic were enrolled in the study. All patients were 30 years of age or above, diagnosed as a case of diabetes mellitus were included. Patients with diabetes mellitus type 1 and pregnant diabetic women were excluded. Sixty-seven percent were females and thirty three percent were males. Mean age of the patients was 53.4 +/- 11.0 years [F: 51.9 +/- 12.0, M: 56.5 +/- 7.8] and mean duration of diabetes mellitus type 2 was 7.1 +/- 6.5 years [F: 7.1 +/- 6.4, M: 7.9 +/- 6.8], mean height of patients with DM type 2 was 1.5 +/- .09 m [F: 1.5 +/- .08, M: 1.6 +/- .08], mean weight was 71.4 +/- 14.3 kg [F: 70.1 +/- 15.0, M: 74.2 +/- 12.6], and mean BMI was 28.3 +/- 6.4 [F: 28.7 +/- 6.9, M: 27.5 +/- 5.2]. Among all patients, 34% [F: 23, M: 11] had normal weight, 28% [F: 17, M: 11] were overweight, 32% [F: 23, M: 9] were obese and 6% [F: 4, M: 2] had morbid obesity. There was strong association of obesity with type 2 diabetes mellitus with no significant difference of mean BMIs among male and female patients

Cancelled elective general surgical operations in Ayub teaching hospital

Cancellation of operations in hospitals is a significant problem with far reaching consequences. This study was planned to evaluate reasons for cancellation of elective surgical operation on the day of surgery in Ayub Teaching Hospital, Abbottabad. From July 2006 to June 2007 the medical records of all the patients who had their operations cancelled on the day of surgery in all the three General Surgical units of Ayub Teaching Hospital, Abbottabad were audited prospectively. The number of operation cancelled and reasons for cancellations were documented. 3756 patients were scheduled for surgery during the study period. 2820[75%] patients were operated upon. 936 [25%] operations were cancelled out of which 338[36%] were cancelled due to shortage of time, 296[31.6%] were cancelled due to medical reasons, 152[16.2%] were cancelled due to shortage of beds while 55[5.8%] were cancelled due to shortage of anaesthetists. Three operation lists were lost completely. The Anaesthetist cancelled 43%, Surgeon 39% while 18% of operations were cancelled due organizational reasons. Cancellation of patients on operation lists occupy a substantial population [25%] of cases. Majority of cancellation were due to reasons other than patients medical conditions. Better management could have avoided most of these cancellations

Combined abdominal hysterectomy, cholecystectomy and appendicectomy: a study of 25 cases in Abbottabad

Gallstone disease is common in women. Many patients undergoing abdominal ultrasound for gynaecological diseases are found to have gallstones. This study was done to see the results of combined abdominal hysterectomy, mini-cholecystectomy and appendicectomy in a set up lacking facilities of laparoscopic surgery. This prospective study was conducted in Ayub Teaching Hospital, Iltaf Hospital and Shahina Jamil Trust Hospital of Abbottabad from August 1998 to July 2004. All patients undergoing combined abdominal hysterectomy and mini-cholecystectomy were exclusively studied with reference to following variables. Age, Weight, Parity, Co-morbid conditions, peri-operative and post-operative complications, blood transfusion, hospital stay and mean extra time for mini-cholecystectomy and appendicectomy after abdominal hysterectomy. There were 25 patients in the study group. The ages ranged from 35-50 years. Mean weight was 65 Kg. There were no operative complications. Mild postoperative complications occurred in 7[28%] patients. Mean extra time for cholecystectomy was 25 minutes. Mean hospital stay was 9 days. In selected women, combined abdominal hysterectomy, cholecystectomy and appendicectomy is a safe, feasible and cost effective procedure

Outcome of closed reduction and casting in displaced supracondylar fracture of humerus in children

Supracondylar fracture of humerus in children is most common in first decade of life and needs proper management to prevent complications like cubitus varus, elbow stiffness and compartment syndrome. There are various treatment modalities i.e. traction, closed reduction and casting, open reduction and internal fixation and percutaneous pinning. Purpose of the study was to know the outcome of closed reduction and casting in displaced supracondylar fracture of humerus in children while comparing the results with published literature. Study was conducted at the Orthopaedics unit of Lady Reading Hospital Peshawar from January 2002 to December 2002 and 25 patients at random, with age range of 04 ' 12 years with displaced supracondylar fracture of humerus were treated with closed reduction and casting. Based on assessment through Flynn's criteria, results were excellent in 04 patients [16%], good in 11 [44%], fair in 03 [12%] and poor in 07 patients [28%]. Good results can be obtained in displaced supracondylar fracture Gartland type II of humerus in children with closed reduction and casting while the results with Gartland type III fracture were not satisfactory