Medicine and Health Sciences Commons^™

Molecular Analysis Expands The Spectrum Of Phenotypes Associated With Gli3 Mutations, Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Tilstra Md

Articles

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) …

Com Outlook Fall 2010, College Of Osteopathic Medicine

COM Outlook

No abstract provided.

A Case Study Of Appendicitis At Antanimalandy Lutheran Hospital, Jennifer Gemmell

Independent Study Project (ISP) Collection

From the introduction:

The island of Madagascar houses a total of 19,159,000 people who spend only $34 per person per year on health care (“Madagascar,” 2008). The government claims to have “committed itself to the principle that good health is a right of each Malagasy citizen, and has made significant studies in the area of health care,” according to the country study for the Library of Congress. However, with political corruption, political crisis after political crisis, and lack of international support, the government does not dispense the funds necessary to support this commitment (Metz, 1994). For example, in 1976 the …

Epidemiology Of Pediatric Urolithiasis, Ajay P. Sharma, Guido Filler

Paediatrics Publications

Pediatric urolithiasis has increased globally in the last few decades. There has been a change in the pattern of stone composition with an increase in the frequency of kidney stones and a decrease in bladder stones. The role of familial predisposition and environmental factors in pediatric urolithiasis is now better understood. Metabolic factors are more common in pediatric urolithiasis than in adult stone disease. This review updates on the epidemiology of pediatric urolithiasis with a focus on the changing trends in the stone disease, current spectrum of stone disease encountered in clinical practice, individual predisposition and the role of environmental …

Nox2 Deficiency Protects Against Streptozotocin-Induced Β-Cell Destruction And Development Of Diabetes In Mice, Fu Li Xiang, Xiangru Lu, Brenda Strutt, David J. Hill, Qingping Feng

Paediatrics Publications

OBJECTIVE - The role of NOX2-containing NADPH oxidase in the development of diabetes is not fully understood. We hypothesized that NOX2 deficiency decreases reactive oxygen species (ROS) production and immune response and protects against streptozotocin (STZ)-induced β-cell destruction and development of diabetes in mice. RESEARCH DESIGN AND METHODS - Five groups of mice-wild-type (WT), NOX2-/-, WT treated with apocynin, and WT adoptively transferred with NOX2-/- or WT splenocytes - were treated with multiple-low-dose STZ. Blood glucose and insulin levels were monitored, and an intraperitoneal glucose tolerance test was performed. Isolated WT and NOX2-/- pancreatic islets were treated with cytokines for …

Primary Chiasmal Sarcoid Granuloma Masquerading As Glioma Of The Optic Chiasm, Muhammad Zubair Tahir, Farheen Shaikh, Arshad Ali Siddiqui

Section of Neurosurgery

A 37-year-old woman presented with a 6 months history of headaches and memory impairment. Examination showed no neurological deficit with normal vision. MRI scans showed an enlarged optic chiasm. There was no dural or leptomeningeal enhancement or hydrocephalus. Open biopsy of the suprasellar mass showed non-caseating chronic granulomatous inflammation compatible with sarcoidosis. Systemic features of sarcoid were absent. Patient showed marked improvement on steroid therapy.

Students’ Research: Tradition Ahead Of Its Time, Haider A Naqvi

Department of Psychiatry

This view point describes the experience of introducing research at an undergraduate level during clinical rotation in psychiatry. Objective of this initiative was to encourage critical thinking, self directed learning and sensitization to mental health issues. This contributed to student learning besides galvanizing their interest in the subject. The opinion piece aims to expose various issues to students’ research in the context of medical education in Pakistan.

Gender Difference In Age At Onset Of Schizophrenia: A Cross Sectional Study From Pakistan, Imama Naqvi, Muhammad Murtaza, Muhammad Ressam Nazir, Haider Ali Naqvi

Department of Psychiatry

OBJECTIVE: To validate the effect of gender on age at onset of schizophrenia in a developing country

METHODS: Medical records of 252 patients diagnosed with schizophrenia according to DSM-IV criteria at a tertiary care hospital in Karachi, Pakistan between 2002 and 2008 were reviewed using a structured questionnaire. Age at onset was defined as age at onset of psychotic symptoms, age at first contact with a health care provider and age at first hospitalization. Socio-demographic variables were reported using descriptive statistics and all measures of age at onset were compared across gender using t-test.

RESULTS: There were 119 women and …

Ten Year Experience Of Pediatric Kidney Biopsies From A Single Center In Pakistan, A Absar, M Diamond, Y Sonia, R Arshalooz, A Safia, K Waqar, P Shahid

Section of Nephrology

There are many established registries of kidney biopsies around the world. In addition, there are several reports available in literature from many countries on pediatric kidney biopsy. This study was done to determine the indications and pathological patterns of kidney biopsies of children referred to our hospital, and compare our data with the data available from other countries. This is a cross-sectional study of pediatric kidney biopsies over a 10-year period, from January 1997 to December 2006. All biopsies were done in Aga Khan University Hospital, Karachi, Pakistan. Age range was from 1 to 14 years. Data were analyzed for …

An Evaluation Of Referral System For Retinopathy Of Prematurity In Leading Health Centers Across Karachi, Pakistan, Farzeen Khalid Hashmi, Tanveer Anjum Chaudhry, Khabir Ahmad

Section of Ophthalmology

Objective: Retinopathy of prematurity (ROP) is emerging as a significant avoidable cause of childhood blindness in developing countries. This study was conducted to assess the referral system for ROP in the leading health care centers involved in the provision of services to newborns in Karachi, and to assess the awareness of this condition among health care workers in these centers.
Methods: A purposeful sampling technique was employed to select ten health care centers in Karachi, Pakistan, which had the highest number of deliveries per year. Key informants interviews were held with the health care providers involved in the decision-making at …

Pontine Haemorrhage Due To Chondrosarcoma Of The Skull Base, Maliha Iqbal Jumani, Roomasa Channa, Sayed Nabeel Zafar, Ather Enam

Section of Neurosurgery

A young adult presented with acute weakness of right side of body and slurring of speech. An initial brain CT scan showed a pontine haemorrhage, however MRI done a few days later revealed a mass in the left parapharyngeal space. Histopathology of the mass revealed that it was a chondrosarcoma. Subsequently the patient was initially treated with chemotherapy and radiotherapy and later surgery. Skull base chondrosarcomabe is to be included in the differentials of a young patient presenting with signs consistent with pontine haemorrhage.

Aluminium Phosphide Poisoning: A Case Report, Shela Akbar Ali Hirani, Arshalooz Rahman

School of Nursing & Midwifery

This paper reports the case of a family in which three children were presented at Emergency Room (ER) with poisoning after the use of a pesticide at home. Initially, the cases were managed as routine cases of organophosphorus poisoning; however, the death of two children made the health team members realise that the poison's effects were delayed and devastating. Later, the compound was identified as Aluminium Phosphide (ALP), and the life of the last surviving child in the family was saved.

Using Photoactive Vitamin Nanoparticles As Photodynamic Antimicrobial Chemotherapeutic (Pact) Agents To Treat Chronic Wounds, Rahul A. Khanke

All Capstone Projects

The objective of the proposed study is to develop new materials and methods to manage microbial growth in chronic wounds using phototherapy. Chronic wounds are considered as a worldwide health problem. The most common chronic wounds can be classified into three categories: venous ulcers, diabetic ulcers, and pressure ulcers. Venous ulcers, which usually occur in the legs, account for about 70% to 90% of chronic wounds and can become infected easily. Venous ulcers are sores that develop after veins in the legs have been damaged. These ulcers can penetrate deeply into the skin. Occasionally, if a venous ulcer persists for …

Pleuro Pericardial Cyst, Amina Adil, Shahrukh Hashmani, Ghufran Ullah Khan

Section of Cardiology

A 68-year-old male, presented with exertional dyspnoea and chest pain in his anterior chest wall for 3 months. He had no previous history of cardiac disease. Clinical examination failed to show anything significant. Chest X-ray showed a mass superimposed over the upper cardiac silhouette. He was further evaluated by chest CT, which showed a cystic mass in the anterior mediastinum measuring 9 x 7 cm in its maximum diameter. On surgical excision and histopathological examination, findings were consistent with benign pleuropericardial cyst, confirming the earlier diagnosis.

Interferon Regulatory Factor 3-Dependent Pathways Are Critical For Control Of Herpes Simplex Virus Type 1 Central Nervous System Infection, Vineet D. Menachery, Tracy J. Pasieka, David A. Leib

Dartmouth Scholarship

The initiation of the immune response at the cellular level relies on specific recognition molecules to rapidly signal viral infection via interferon (IFN) regulatory factor 3 (IRF-3)-dependent pathways. The absence of IRF-3 would be expected to render such pathways inoperative and thereby significantly affect viral infection. Unexpectedly, a previous study found no significant change in herpes simplex virus (HSV) pathogenesis in IRF-3^−/− mice following intravenous HSV type 1 (HSV-1) challenge (K. Honda, H. Yanai, H. Negishi, M. Asagiri, M. Sato, T. Mizutani, N. Shimada, Y. Ohba, A. Takaoka, N. Yoshida, and T. Taniguchi, Nature 434:772-777, 2005). In contrast, the …

End-Of-Life Care For Hospitalized Patients With Lung Cancer: Utilization Of A Palliative Care Service., Barbara Reville, M.S., Achpn, Marshal N Miller, B.S., Richard W Toner, M.S., Joanne Reifsnyder, Ph.D., Achpn

Department of Family & Community Medicine Faculty Papers

PURPOSE: High symptom burden and hospital mortality among patients with lung cancer argues for early palliative care intervention. Patient characteristics and discharge dispositions in hospitalized patients with lung cancer receiving usual care were compared to those referred to a new palliative care service.

METHODS: A retrospective database review of all lung cancer discharges receiving usual care (UC) and palliative care service (PCS) consultation was conducted. Demographics, length of stay, discharge disposition, and mortality were described and compared. Palliative Performance Scale scores were described according to discharge disposition in the PCS group. Disposition of all patients receiving either chemotherapy or surgery …

Oncolog Volume 55, Number 10, October 2010, Sunni Hoseman, Stephanie Deming

OncoLog MD Anderson's Report to Physicians (All issues) Archives

• Protecting the Patient during Radiation Theraphy: Staff expertise and equipment accuracy are essential to safe and effective treatment
• Compass Fall 2010: Stage II Colon Cancer: Adjuvant Therapy? After Surgery, some patients benefit from chemotherapy
• HOUSE CALL: Managing Cancer-Related Pain
• INBRIEF: Researchers identify Enzyme Involved in Chemotherapy Resistance

Benign Metastasizing Leiomyoma, Saira Fatima, Zubair Ahmad, Mohammad Azam

Department of Pathology and Laboratory Medicine

Benign metastasizing leiomyoma (BML) is a rare condition, affecting predominantly reproductive-age females with uterine leiomyomata and is most often associated with multiple benign-appearing smooth muscle tumors in lungs. We report herein a case of a 38-year-old woman who presented with multiple uterine fibroids for which hysterectomy was carried out on her. Postoperatively, she developed left-sided pleural effusion. Computed chest tomography (CT) scan revealed multiple nodules in both lungs and pleurae. Histopathology of one of the pleura-based nodules revealed a neoplasm composed of interlacing fascicles of spindle cells with uniform nuclei. The tumor cells were positive for alpha-smooth muscle actin and …

High Inspired Co2 Capnograph Reading Due To Misplaced End Tidal Co2 Sampling Port, Andrew Ng, Md, Elia Elia, Md, Lisa Luyun, Md

Department of Anesthesiology Faculty Papers

In conclusion, if abnormal capnography is seen where the baseline inspiratory CO2 is higher than usual, inspect the circuit for rebreathing and consider examining the position of ETCO2 sampling port. We recommend confirming ETCO2 sampling port is connected immediately distal to Y-piece before starting a case for accurate CO2 measurement.

Electroconvulsive Therapy For A Patient With A Penetrating Ulcer In The Aortic Arch, Andrew Ng, Md, George Hsu, Md, Zvi Grunwald, Md

Department of Anesthesiology Faculty Papers

Case: An 85 year-old male presented with major depressive disorder refractory to medical therapy. A series of eight electroconvulsive therapy (ECT) was planned. Past medical history includes a small penetrating ulcer in the aortic arch, an ascending aortic aneurysm measuring 4.3 x 4.4 cm, atrial fibrillation on anticoagulation and hypertension. Medications include metoprolol, coumadin, simvastatin, alprazolam and venlafaxine.

Intraoperative Point-Of-Care Blood Glucose Values Show Poor Agreement With Central Lab Blood Values, Eric Schwenk, Md, Richard H. Epstein, Md, Cphims, Boris Mraovic, Md

Department of Anesthesiology Faculty Papers

Introduction:

Accuracy of point-of-care (POC) glucose devices compared to central lab values in critically ill patients has come into question, particularly during intensive insulin therapy.

POC devices perform particularly poorly in the hypoglycemic range.

Typically tested under ideal conditions in the lab; intraoperative, real-life data are lacking.

Liver Transplantation In The Face Of Severe Electrolyte Abnormalities: A Discussion Of Management Techniques, Vincent Franze, Md, Rosalba Spiritoso, Md, Elia Elia, Md, Yoogoo Kang, Md

Department of Anesthesiology Faculty Papers

Introduction:

Electrolytes disorders are a common finding in patients with End stage liver disease (ESLD). Liver transplantation (OLT) is frequently associated with massive transfusion and fluid shifts in patients with renal dysfunction, and management of hyponatremla, hyperkalemia and hypervolemia are major concerns for anesthesiologists. This case describes a multimodal approach in treatment of combined severe hyponatremla, hperkalemia and hypervolemia.

Intraoperative Insulin Administration And Hypoglycemia In Diabetic Patients, Eric Schwenk, Md, Richard H. Epstein, Md, Cphims, Boris Mraovic

Department of Anesthesiology Faculty Papers

Introduction:

Although studies are conflicting as to the benefit of intensive insulin therapy (IIT) in the critically ill, there is a 6x increase in hypoglycemia incidence in patients treated with IIT.

Anesthesia masks signs and symptoms of hypoglycemia, making intraop hypoglycemia difficult to detect clinically.

We performed this retrospective, observational analysis to:

Determine the incidence of intraoperative hypoglycemia and severe hypoglycemia

Evaluate possible causes of hypoglycemia

Determine intraop monitoring and treatment practices of diabetic patients at a large academic hospital

Mediastinal Seminoma Presenting As Superior Vena Cava Syndrome And Tracheal Obstruction, Saulat Hasnain Fatimi, Basma Shahid, Hashim Muhammad Hanif, Marium Muzaffar

Section of Cardiothoracic Surgery

Malignant germ cell tumours of the mediastinum are rare, presenting mostly in young males. These are bulky tumours, mostly intrathoracic, infiltrating into adjacent structures early in the growth process. Patients may present with symptoms of compression. Occasionally, mediastinal adenopathy and superior vena cava (SVC) syndrome may occur. We discuss a case of a 19 year old boy with six weeks history of progressively worsening shortness of breath and mid-sternal chest heaviness and one month history of swelling of the face and upper limbs. The entire face and upper extremities were grossly oedematous with engorged veins suggesting SVC syndrome. CT scan …

Non-Contrast Mri May Predict Safety Of Gadolinium-Enhanced Mri In Patients With Cirrhosis, Jonathan M. Fenkel, Md, Colin L. Smith, Md, Leela Nayak, Md, Steven K. Herrine, Md, Donald G. Mitchell, Md

Division of Gastroenterology and Hepatology Faculty Papers

Background:

Hepatorenal syndrome (HRS) is a relative contraindication to receiving gadolinium-based contrast media secondary to risk of nephrogenic systemic fibrosis (NSF)

Patients with cirrhosis frequently undergo magnetic resonance imaging (MRI) for hepatocellular cancer screening and liver transplant evaluation.

Most centers require documented serum creatinine levels within 10-14 days of performing MRIs on patients with cirrhosis.

Ascites can be readily detected on MRI without contrast enhancement.

Objective:

To determine whether the presence of ascites on MRI can be used to recommend against a diagnosis of HRS without knowledge of a serum creatinine level.

Spinal Changes In Patients With Ankylosing Spondylitis On Mri: Case Series, Rohana Naqi, Humera Ahsan, Muhammad Azeemuddin

Department of Radiology

Magnetic Resonance Imaging appearances are described in three cases of Ankylosing Spondylitis (AS). The different appearances of AS on magnetic resonance imaging are described and their significance in relation to the pathology of this condition is discussed. MRI is increasingly used to detect changes in the spine of patients with AS. Spinal changes associated with spondyloarthritis are florid anterior spondylitis (Romanus lesion), florid discitis (Andersson lesion), ankylosis, insufficiency fractures of the ankylosed spine, syndesmophytes, arthritis of the apophyseal and costovertebral joints and enthesitis of the interspinal ligaments.

Clonal Dissemination Of Vana Positive Enterococcus Species In Tertiary Care Hospitals In Karachi, Pakistan, Naima Fasih, Afia Zafar, Erum Khan, Kausar Jabeen, Rumina Hasan

Department of Pathology and Laboratory Medicine

OBJECTIVE: To perform molecular typing of vancomycin resistant Enterococcus spp. (VRE) strains endemic in various hospitals of Karachi, to characterize the mechanism of glycopeptide resistance and assess the genetic relatedness, for understanding its transmission locally.

METHOD: This was a cross sectional study conducted in the clinical and research laboratory of Aga Khan University Hospital (AKUH), Karachi, Pakistan from October 2007 to September 2008. Non-duplicate 86 (65 AKUH and 21 non-AKUH) VRE strains were included. Molecular typing of nosocomial isolates of VRE was carried out by using Pulsed field gel electrophoresis (PFGE) and identification of vanA and vanB genes were performed …

Preventive Care Utilization Among Black Women : Perceived Beliefs, Benefits And Barriers To Mammography Screening, Rowandalla Y. Dunbar

Loma Linda University Electronic Theses, Dissertations & Projects

Blacks, in comparison to other racial or ethnic groups, suffer higher rates of illness and death from many preventable or treatable diseases. Despite the significantly higher rates of mortality and disease, Blacks are least likely to utilize clinical preventive care services. Black women, who are more likely to have advanced breast cancer at time of diagnosis (Chu, Lamar, & Freeman, 2003) are least likely to seek mammography screening (National Health Interview Study, 2000). Allen, Bastani, Bazargan and Leonard (2002) examined predictors of mammography screening among women 40 years old and older residing in the South Central area of Los Angeles, …

Chemical Dependency: An Occupational Hazard In The Field Of Anaesthesia, Samina Ismail

Department of Anaesthesia

The medical personnel are vulnerable to substance abuse and dependence due to ready access to substance of abuse. Addiction is considered as an occupational hazard for those involved in the practice of anaesthesia for the same reason. Substance abuse is defined as a psychosocial biogenetic disease, which results from dynamic interplay between a susceptible host and favourable environment. According to the 5th and the last National Survey on Drug Abuse (NSDA) in 1993 by Pakistan Narcotic Control, there are nearly three million drug dependants in Pakistan, but no data is available to determine the prevalence among medical or anaesthesia personnel. …

Clinical Accuracy Of A Hospital Point-Of-Care Glucose Meter, Brian R. Hipszer, Phd, Jennifer B. Lessin, Rn, Kathleen O'Malley, Rn, Zvi Grunwald, Md, Jeffrey I. Joseph, D.O.

Department of Anesthesiology Faculty Papers

Summary: Glucose meter performance was evaluated against the ISO 15197 guidelines in 221 time-matched venous and capillary blood samples. Accuracy decreased when the source of the reference and meter blood samples was not the same.