Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.

(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (NKX2-5) and actin alpha cardiac muscle1 (ACTC1) genes play a key role in CHDs such as atrial and ventricular septum defects. Therefore, the present study evaluates the role of key hotspot mutations in NKX2-5 and ACTC1 genes of congenital cardiac septal defect (CCSD) in ethnic Kashmiri population. (2) Methods: A total of 112 confirmed CHD patients were included in the current study, of which 30 patients were evaluated for mutational analysis for hotspot mutations of NKX2-5 and ACTC1 genes. The total genomic DNA was extracted from the samples (cardiac tissue/blood) and were subjected to amplification for NKX2-5 (exon 1 and 2), and ACTC1 (exon 2) genes by using PCR specific primers to analyze the hotspot mutations in respective exons. The amplified products obtained were sent to Macrogen Korea for sequencing by Sanger's method. (3) Results: Our results confirmed that not a single mutation was found in either hotspot exon 1 and 2 of NKX2-5 and exon 2 of ACTC1 in the patients included in the current study. Interestingly, a novel synonymous nucleotide variation leading to G > C transversion (GCG > GCC) was found in exon 2 of NKX2-5 gene of CCSD patient. (4) Conclusions: The current findings demonstrated the role of NKX2-5 and ACTC1 in cardiac development. The study will provide an insight in understanding the genetic etiology and highlights the role of newly identified mutations in patients with CDS's in ethnic Kashmiri population. In silico findings revealed amino acid changes, splice site variation and the creation of new site. Furthermore, the study warrants complete screening of genes involved in CCSDs.

Impact of Surgery on the Hemangiogenic Profile, Especially VEGF Levels, in Lung Cancer Patients.

Introduction: Lung cancer was considered to be rare at the beginning of the 20th century, but it has now reached almost epidemic proportions. It is the leading cause of cancer deaths in developed countries and is also rising at alarming rates in developing countries. Introduction: Coronavirus disease 2019 (COVID-19) is an emerging viral infection without any approved treatment. Investigational therapies for COVID-19 may cause clinically important drug-drug interactions (DDIs). We aimed to study drug-drug interactions (DDIs) and their risk factors in hospitalised COVID-19 patients. Aim: The aim of our study is to establish an effect on serum levels of vascular endothelial growth factor (VEGF) after surgery in lung cancer patients. Methods:This was a prospective study. For the estimation of VEGF, 50 lung cancer patients were studied. Both preoperative and postoperative levels of VEGF were estimated for all subjects. Blood samples were obtained from all cases both preoperatively and postoperatively (four weeks after surgery). Blood samples of 100 age and sex matched healthy controls were collected from the Outpatient Departments of SKIMS to establish normal serum VEGF levels. Conclusion: Our findings show that serum VEGF levels are higher as the tumor stage progresses and tumor size increases, which explains the lower serum VEGF levels observed by us in the operable patient group.

Characteristics of Pseudoaneurysms in Northern India; Risk Analysis, Clinical Profile, Surgical Management and Outcome.

OBJECTIVE: To determine the risk factors, clinical characteristics, surgical management and outcome of pseudoaneurysm secondary to iatrogenic or traumatic vascular injury. METHODS: This was a cross-sectional study being performed in department of cardiovascular and thoracic surgery skims soura during a 4-year period. We included all the patients referring to our center with primary diagnosis of pseudoaneurysm. The pseudoaneurysm was diagnosed with angiography and color Doppler sonography. The clinical and demographic characteristics were recorded and the risk factors were identified accordingly. Patients with small swelling (less than 5-cm) and without any complication were managed conservatively. They were followed for progression and development of complications in relation to swelling. Others underwent surgical repair and excision. The outcome of the patients was also recorded. RESULTS: Overall we included 20 patients with pseudoaneurysm. The mean age of the patients was 42.1±0.6 years. Among them there were 11 (55%) men and 9 (45%) women. Nine (45%) patients with end stage renal disease developed pseudoaneurysm after inadvertent femoral artery puncture for hemodialysis; two patients after interventional cardiology procedure; one after femoral embolectomy; one developed after fire arm splinter injury and one formed femoral artery related pseudoaneurysm after drainage of right inguinal abscess. The most common site of pseudoaneurysm was femoral artery followed by brachial artery. Overall surgical intervention was performed in 17 (85%) patients and 3 (15%) were managed conservatively. CONCLUSION: End stage renal disease is a major risk factor for pseudoaneurysm formation. Coagulopathy, either therapeutic or pathological is also an important risk factor. Patients with these risk factors need cannulation of venous structures for hemodialysis under ultrasound guide to prevent inadvertent arterial injury. Patients with end stage renal disease who sustain inadvertent arterial puncture during cannulation for hemodialysis should receive compression dressings for 5 to 7 days.

Outcome of trans-axillary approach for surgical decompression of thoracic outlet: a retrospective study in a tertiary care hospital.

OBJECTIVE: The aim of this study was to evaluate the trans-axillary surgical approach in patients with thoracic outlet syndrome. METHODS: This retrospective study is comprised of data acquired from January 1998 until Oct 2008. Case histories of all the patients were reviewed from the Medical Records Department of Sher-i-Kashmir Institute. Relevant information and follow-up of the patients was carried out by examining the relevant clinical notes available by telephone interviews and personal contact whenever possible. All data was compiled and analyzed statistically. RESULTS: There were a total of 139 patients. The female: male ratio was about 6:1. Pain was the most common presenting symptom followed by weakness and parasthesia. Nerve conduction velocity was abnormal in 111 patients. Twenty-eight patients had abnormal Doppler study of subclavian vessels. Preoperative symptoms persisted in 13 patients. Overall, 126 patients showed improvement in symptoms and no recurrence or persistence of symptoms on follow-up examination. CONCLUSION: Trans-axillary approach provides a good exposure and cosmesis in patients with thoracic outlet syndrome. It should be considered as the gold standard in the management of thoracic outlet syndrome.

The Pattern, Presentation and Management of Pardah Pin Inhalation: Report from a Single Center in Northern India.

OBJECTIVE: To describe the clinical characteristics, presentation and management of Pardah pin inhalation in female teenagers of single center in northern India. METHODS: This was a prospective cross-sectional study being performed in department of cardiovascular and thoracic surgery of Sher-i-Kashmir institute of medical sciences located in northern India from January 2009 to December 2012. We included 36 female patients with Pardah pin inhalation who were admitted to our center during the study period. All patients underwent rigid bronchoscopy under local or general anesthesia. We recorded the baseline characteristics including the demographic information, the site of the pin and clinical findings as well as the management strategies and the outcome of these patients. RESULTS: All patients were female using scarf to wrap their head and neck as religious obligation. Mean age of the patients was 14.3 ± 3.6 years. The most common symptom was chocking followed by cough being reported in all (100%) and 31 (86.1%) patients respectively. Bronchoscopy was successful in removing the pin in 31 (86.1%) patients. Pins were located in right main bronchus in 20 (55.5%) patients, and in left main bronchus in 10 (27.7%) patients. There was no mortality in our series. Pin was removed in 31 (86.1%) patients with the help of bronchoscope, but 5 (13.9%) patients needed bronchotomy for removal of the pin. Average hospital stay was 12.43 ± 1.6 hours. CONCLUSION: Rigid bronchoscopy is an ideal approach in management of Pardah pin inhalation. However some patients may need bronchotomy to remove the Pardah pin.

A comparative study on the effect of amiodarone and metaprolol for prevention of arrythmias after open heart surgery.

OBJECTIVES: The aim of this study was to compare the effect of amiodarone and metaprolol in prevention of atrial fibrillation in patients, following open heart surgery. METHODS: This prospective study was carried out between May 2008 to Nov. 2010, and comprised a total of 50 patients with normal preoperative sinus rhythm undergoing open heart surgery using cardio pulmonary bypass. RESULTS: Mean age of patients was 47+2.7 years, of which 60% who developed atrial fibrillation aged from 51 to 60 years. Most patients (62%) were in NYHA Class III. Patients who received amiodarone showed significant improvement in LVEF compared to those treated with Metaprolol. Amiodarone treated group exhibited lesser incidence and short-lasting atrial fibrillation, lower ventricular rate, shorter hospitalization, and lesser cost of care than those in metaprolol group. CONCLUSIONS: The present study showed that amiodarone was more efficient in controlling post-operative atrial fibrillation as compared to metaprolol. However, a larger randomized controlled trial is needed to corroborate the result of this study.

Native arterio-venous fistula is the vascular access of choice for hemodialysis in end stage renal disease.

OBJECTIVES: THE AIM OF THE STUDY WAS: Is primary Arterio-venous fistula the vascular access of choice for adequate dialysis and better patient outcome in end stage renal disease. MATERIALS AND METHODS: The present study was done in the department of cardiovascular and thoracic surgery at Sher-i-Kashmir institute of medical sciences, Soura, Srinagar Kashmir. Native Arterio-Venous (AV) fistulas were made in the patients with end stage renal disease for performing hemodialysis. They were followed for patency and adequacy of blood flow during hemodialysis. All the patients were operated under local anesthesia. RESULTS: The results showed that 77% of the AV fistulas based on radial artery with side-to-side anastomosis and 80% of those with end-to-side anastomosis were functionally patent after one year. After two years, the patency rate in side-to-side and end-to-side anastomosis was 50% and 55%, respectively. In addition, the patency rate was 90% in brachial artery based AV fistula with end-to-side anastomosis, whether done primarily or secondarily, at the end of one year. However, a rapid decline was observed in the patency rate during the third year in both radial artery based and brachial artery based AV fistulas. CONCLUSIONS: We concluded that Arterialised arm superficial veins after primary AV fistula was the optimal and rational vascular access for hemodialysis providing adequate blood flow during this process. Besides, failure of primary AV fistula should be replaced by secondary AV fistula preferably based on brachial artery.

Outcome of the surgical treatment of bullous lung disease: a prospective study.

BACKGROUND: This study aimed at evaluating the outcome of surgery for bullous lung disease by comparing the preoperative and postoperative subjective dyspnea score, pulmonary function and clinical features. MATERIALS AND METHODS: This prospective study was conducted from May 2009 to October 2011, on 54 patients operated for bullous lung disease. Follow-up at 3-6 months consisted of taking a comprehensive history, physical examination, radiological work-up, and evaluation of changes in subjective dyspnea score, arterial blood gas analysis (ABG), and pulmonary function test (PFT). After comparison with preoperative values, the student's paired t-test was used to calculate the statistical significance. RESULTS: With approximately 21.6 cases per year, the most common underlying lung pathology was primary bullous lung disease, followed by COPD. The most common presenting complaint was spontaneous pneumothorax in tall young adults in their fourth decade of life with a history of smoking. Bullectomy, with or without decortication, was done for all cases. Improvement in mean PaO2 (arterial partial pressure of oxygen), SaO2 (arterial oxygen saturation) and PaCO2 (arterial partial pressure of carbon dioxide) was seen in most cases but was statistically insignificant. Improvement in mean FEV1 (forced expiratory volume in 1st second), FVC (forced vital capacity) and FEV1 / FVC was statistically significant, with FEV1 being the most reliable indicator of postoperative progress. Improvement in subjective dyspnea score was statistically significant and showed an inverse correlation with FEV1. Those with diffuse pulmonary parenchymal involvement had poorer baseline values and less significant postoperative improvement. Complications occurred more commonly in those with diffuse disease. Mortality was seen exclusively in those with diffuse disease. CONCLUSION: We conclude that surgery is required for bullous lung disease more frequently in our community since we have a high number of young patients with primary bullous lung disease and localized parenchymal involvement and these patients have a good surgical outcome. Potentially fatal complications like pneumothorax and recurrent infections can therefore be prevented in them. Those with underlying diffuse disease and severely decreased FEV1 (especially below 1 L) also benefit from surgery but require careful patient selection.

Profile of missile-induced cardiovascular injuries in Kashmir, India.

BACKGROUND: Missile cardiovascular injuries have taken an epidemic proportion in Kashmir valley since the eruption of militancy in 1990. Present study was undertaken to analyse the pattern, presentation and management of missile cardiovascular injuries. PATIENTS AND METHODS: Three hundred and eighty-six patients with missile cardiovascular injuries since Jan 1996 to Oct 2008 were studied retrospectively. All patients of cardiovascular injuries due to causes other than missiles were excluded from the study. RESULTS: All patients of missile cardiac injuries were treated by primary cardiorrhaphy. Right ventricle was the most commonly affected chamber. Left anterior thoracotomy was most common approach used. Most of the patients of missile vascular group were treated by reverse saphenous vein graft or end-to-end anastomosis. Most common complication was wound infection (20.83%) followed by graft occlusion (1.94%) in missile vascular group. Amputation rate was 4.66%. Amputation rate was higher in patients with delay of >6 hours and associated fractures. CONCLUSION: Missile cardiac injuries should be operated early without wasting time for investigations. Clinical status at arrival, time interval till management, nature of injury and associated injuries, tell upon the mortality. Missile vascular injury needs prompt resuscitation and revascularization at the earliest. Time interval till revascularization and associated fractures has a bearing on mortality and morbidity.

Vascular injuries after bear attacks: Incidence, surgical challenges and outcome.

BACKGROUND: Bear mauling is rarely reported in medical literature due to its rare occurrence. Present study was undertaken to describe the pattern and management of bear maul vascular injuries in Kashmir. PATIENTS AND METHODS: Study of patients with bear maul vascular injury from 1(st) Jan 2004 to 31(st) Dec. 2008. Fifteen patients with bear maul vascular injury were studied. All patients of bear maul without vascular injury were excluded from the study. RESULTS: Most of the patients were treated by reverse saphenous vein graft or end to end anastomosis. Most common complication was wound infection (20%) followed by graft occlusion (13.33%). There was no operative death. CONCLUSION: Bear attacks are very common in Kashmir. Vascular injury due to bear maul needs prompt resuscitation and revascularization. Results are very good provided timely intervention for revascularization is done.

Transthoracic versus transhiatal esophagectomy for esophageal carcinoma: experience from a single tertiary care institution.

BACKGROUND: There is a lot of controversy about the best surgical treatment for esophageal carcinoma. METHODS: In this retrospective study, 382 patients with carcinoma of the mid-to-distal esophagus underwent transthoracic or transhiatal esophagectomy. Early morbidity and mortality were compared. Principal endpoints were disease-free survival (DFS) and overall survival (OS). RESULTS: A total of 177 patients underwent transthoracic esophagectomy, and 205 patients underwent transhiatal esophagectomy. Demographic characteristics and characteristics of the tumor were similar in the two groups. Perioperative and postoperative morbidity was higher after transhiatal esophagectomy. In-hospital mortality was also higher after transhiatal esophagectomy. The median follow-up was 4.3 years. Estimated 3-year DFS rates were 44.63 and 31.21%, whereas the 3-year OS rates were 57.06 and 41.46% for the transthoracic and transhiatal groups, respectively (statistically significant). Also, the estimated 5-year DFS rates were 26.55 and 21.46%, whereas the 5-year OS rates were 32.76 and 30.24% for the transthoracic and transhiatal groups, respectively (statistically not significant). CONCLUSIONS: Transhiatal esophagectomy was associated with higher perioperative and postoperative morbidity and in-hospital mortality than transthoracic esophagectomy. The DFS and OS were higher in the transthoracic group and were statistically significant at 3 years but statistically insignificant at 5 years.

Unusual metastasis to all the digits of both hands in a patient previously operated on for esophageal carcinoma.

Metastatic malignancies to the hand, although rare, usually develop from lung, breast, and kidney tumors. Very rarely the origin is the gastrointestinal system. Metastases to the bones of the hand can cause pain, swelling, soft tissue ulceration, and osteolytic destruction. We present a patient with metastatic tumors to all digits of both hands 2.5 years after being operated on for esophageal carcinoma. The patient underwent amputation of the left little finger followed by systemic chemotherapy. The histopathological diagnosis was consistent with that of the primary tumor. This case is being presented for being the rarest of its kind and may even be the first of its nature in the world's literature as an extensive search has not shown another of its kind to date.

Clinical profile and surgical outcome for pulmonary aspergilloma: nine year retrospective observational study in a tertiary care hospital.

BACKGROUND: The indications and the outcome of surgery for pulmonary aspergilloma remain highly controversial. This retrospective observational study was conducted to study the clinical profile, indications, post-operative complications and long term outcome of patients having pulmonary aspergilloma. METHODS: From January 2000 to October 2008, 52 patients underwent surgery for pulmonary aspergilloma at our tertiary care institute. RESULTS: The group consisted of 32 males and 20 females with a mean age of 39.3 ± 11.2 years. The most common indication for surgery was hemoptysis (96.15%). The underlying lung diseases were tuberculosis (75%), bronchiectasis (5.76%), and lung abscess (5.76%). In one patient (2%), concomitant ruptured lung hydatid cyst and an aspergilloma was present. The procedures performed were lobectomy (n = 43), bilobectomy (n = 3). pneumonectomy (n = 3), segmental resection (n = 3). The post-operative mortality was 1.92% (one patient). Overall complications occurred in 12 (23.07%) patients. The complications included prolonged air leak (n = 6), bleeding (n = 3), empyema (n = 1), repeated pneumothorax (n = 1), and wound dehiscence (n = 1). The mean follow-up period was 38 ± 18.6 months. There was no recurrence of disease or hemoptysis. CONCLUSION: Pulmonary aspergilloma is common in developing countries like India in which there is high prevalence of pulmonary tuberculosis. Surgical resection of pulmonary aspergilloma is effective in preventing recurrence of symptoms including hemoptysis. We recommend early surgical resection of symptomatic aspergilloma with reasonable complications. Pre-operative preparation of the patients, meticulous surgical technique and post-operative chest physiotherapy reduces the rate of complications. Complications may still occur and are largely related to the underlying lung pathology; however, the long term outcome is good.

Vascular injuries caused by tear gas shells: surgical challenge and outcome.

BACKGROUND: Tear gas shells are used to disperse the mob during any type of street protests. Vascular injuries due to tear gas shells have not been reported. The present study was undertaken to analyse the pattern, presentation, management and outcome of vascular injury due to tear gas shells. METHODS: Eighteen patients with vascular injury caused by tear gas shells from 1(st) Jan. 2008 to 31(st) Dec 2009 were studied. Patients with vascular injuries caused by causes other than tear gas shells were excluded from the study. RESULTS: All patients were treated with reverse saphenous vein graft as segmental loss was less than 2.5 cm. Wound infection was the most common complication, followed by graft occlusion. Amputation rate was 16.66%. Associated nerve injury occurred in 44.44% of the patients. CONCLUSION: Tear gas shell injuries should not be taken lightly. They can cause injuries as serious as vascular injuries. Vascular injuries cased by tear gas shells require prompt revascularisation to improve limb salvage. Despite proper revascularisation, patients have significant morbidity and need proper rehabilitation in the follow ups.

Hydatid embolism from a thoracic aortic pseudoaneurysm presenting as gangrenous toes.

Cystic echinococcosis (hydatid cyst), caused by Echinococcus granulosus, has worldwide distribution and poses a health problem in endemic areas. Embolization of hydatid cysts into the vascular tree is an unusual manifestation of the disease. The hydatid embolism results from spontaneous or traumatic rupture of the cyst, and rare case reports of this kind are not well documented in the literature. We report a case of a hydatid embolism from a ruptured hydatid in a pseudoaneurysm of the thoracic aorta. A 45-year-old woman presented with gangrenous changes of the toes of her right foot. After embolectomy, the histopathology of the embolus was doubtful about its being blood clots around hydatid membranes. Postoperatively, computed tomography (CT) of the chest revealed a pseudoaneurysm of the descending thoracic aorta. Definitive surgery for the pseudoaneurysm was done during a second operation. Numerous hydatid cysts were evacuated from the pseudoaneurysm. This report emphasizes the need for an early diagnosis and treatment of echinococcosis before disabling and life-threatening complications occur.

Missile vascular injuries: 19-year experience.

BACKGROUND: Missile vascular injuries have reached an epidemic proportion in Kashmir valley since the eruption of militancy. The present study was undertaken to analyze the mode, pattern, presentation, and management of missile vascular injuries. METHODS: A retrospective study of patients with missile vascular injury from January 1990 to October 2008 was undertaken. Five hundred eighty patients with missile vascular injury were studied. All patients with vascular injury due to causes other than missiles were excluded from the study. RESULTS: Most of the patients were treated by interpositional saphenous vein graft or end-to-end anastomosis. The most common complication was wound infection (22.7%) followed by graft occlusion (3.8%). The amputation rate was 3.3% and was higher in patients with a delay of >6 hours to revascularization and associated fractures. CONCLUSION: Missile vascular injury requires prompt resuscitation and revascularization. Preoperative angiography is seldom necessary. Doppler study may sometimes be needed to aid in the diagnosis.

Popliteal artery injuries: the Kashmir experience.

BACKGROUND: Popliteal artery injuries pose a serious threat to limb survival. Blunt trauma appears to be associated with a higher amputation rate than penetrating trauma, probably because of the more extensive nature of the injuries. METHODS: Two hundred seventy-two cases of popliteal artery injury were studied retrospectively from 1989 to 2001, a warlike period in Kashmir. Preoperative angiography was not performed. Thirty-two percent of patients had associated venous injury and 24.6% of patients had associated bone fracture. RESULTS: Overall morbidity was 55%, with the most common complication being infection (24%). Secondary amputation had to be performed in 16 patients (5.5%). The amputation rate was not influenced by cause of injury and type of repair or the presence of venous injury, but associated bone fracture significantly increased the risk of amputation (p < 0.05). The patients who underwent repair more than 12 hours after sustaining injury had a significantly greater amputation rate (p < 0.05). CONCLUSION: Prompt resuscitation, vascularization, and proper technique appear to be the only correctable factors that improve limb salvage.