Help In Early Diagnosis Research Articles

Screening of feature genes of the ovarian cancer epithelia with DNA microarray

ObjectiveWe aimed to screen differentially expressed genes (DEGs) of ovarian surface epithelia in order to provide beneficial help for early diagnosis and treatment of ovarian cancer with DNA microarrays.MethodsWe extracted the microarray expression profile GSE14407 from Gene Expression Omnibus database which conducted gene expression profiling analysis of 12 ovarian surface epithelia (OSE) and 12 laser capture microdissected serous ovarian cancer epithelia (CEPI) samples. The DEGs between OSE and CEPI were identified by Limma package of R language. Cluster analysis was employed to compare the differences of gene expression patterns between OSE and CEPI. Furthermore, DEGs were analyzed with Functional classification tool, GenMAPP software and GENECODIS.ResultsWe identified 1229 DEGs including 592 down-regulated genes and 637 up-regulated genes. Pathway analysis showed that cell cycle was the most significant pathway and the DEGs related with cell cycle were almost up-regulated. Module mining analysis showed that the up-regulated DEGs were related with signal transduction while the down-regulated DEGs were related with lipid metabolism pathway and cytoskeletal structure.ConclusionThe genes related with cell cycle, lipid metabolism and cytoskeletal structure may be the treatment targets for ovarian cancer.

Role of Surveillance in Hepatocellular Carcinoma

Hepatocellular carcinoma (HCC) is the most common primary liver tumour with rising incidence and has significant mortality of over 600,000 deaths annually. HCC is ranked as the third-leading cause of cancer-related deaths worldwide. An important feature is its unique geographic distribution due to the associated risk factors related to the tumour. Surveillance programmes are recommended in the specified targeted population and help in early diagnosis of HCC with timely therapeutic intervention. Success of surveillance depends on multitude of factors including identification of the target population, proper use of surveillance tests through a structured programme and this in turn leading to proper management of HCC. The most important risk factor associated with HCC is hepatic cirrhosis. Important factors in the aetiology of cirrhosis include chronic infection from hepatitis B (HBV) and C (HCV) viruses and alcohol abuse. Another risk factor increasingly being recognised is non-alcoholic fatty liver disease. Radiological and serological investigations are employed in the screening and surveillance of HCC. Debatable issues in this regard include surveillance interval, efficacy of tests, outcomes of detected tumours and proper recall guidelines which are considered as important factors for success of surveillance programmes. Ultrasonography is considered as the most reliable test modality in surveillance programmes.

Oral presentation in dengue hemorrhagic fever: A rare entity

One of the major health hazards which is prevalent and dangerous is the dengue fever which causes the death of many people. This may be associated with a variety of mucocutaneous manifestations which may be of help in early diagnosis. Many biochemical assays and hematological investigations may aid in the further diagnosis and treatment of the fatal disease. Oral lesions are rare to occur and if present, are often mistaken for platelet abnormality. This case report highlights the importance of oral lesions and it is the first of its kind to be reported as dengue hemorrhagic fever.

Birth-related femoral fracture in newborns: Risk factors and management

Femoral shaft fracture following birth in newborns is a very rare injury. However, the risk factors for, mechanism of and management of these injuries remain a matter of debate. We describe our observations in a tertiary centre. Ten cases of femoral shaft fracture encountered during a study period from January 2005 to December 2009 were evaluated. The demographic details, risk factors during birth, systemic illness, mode of delivery, type of fracture and management used were documented, and an analysis was performed. Mean gestational age was 37.2weeks. Mean time to diagnose was 4days. Two patients had subtrochanteric fracture, and eight patients had mid-shaft fracture. Most patients had breech presentation and had been born by Caesarean section. All patients showed complete union at the end of 4weeks. No residual angulation or limb length discrepancy was noted after mean follow-up of 5years. Thorough clinical examination and proper orthopaedic consult in the event of doubtful presentation help in early diagnosis and management. These fractures have good prognosis at long-term follow-up.

A study of clinical profile of HIV positive patients with neurological manifestations

Background Central nervous system (CNS) is among the most frequent and serious target of HIV infection in patients with profound immunosuppression. CNS problems occur mainly due to either primary pathologic process of HIV or secondary to opportunistic infection and neoplasm. Aims and objectives To study the clinical and investigation profile in diagnosis of HIV patients with CNS manifestation. To correlate CD 4 levels with CNS opportunistic infections. Materials and methods A prospective observational non-randomized clinical study of 50 HIV infected patients, showing clinical evidence of CNS involvement, admitted in tertiary care centre was done. Detail clinical history and CNS examination was carried out. CD 4 count was measured using standard flowcytometry. Investigations like MRI brain/electromyography-nerve conduction studies/cerebrospinal fluid (CSF) examination were done as and when required for diagnosis. Results HIV induced primary CNS illness was present in 30% while 70% cases were due to secondary CNS manifestation mainly due to opportunistic infection. Most common primary illness was distal symmetric polyneuropathy (DSPN) (22%), followed by Aids dementia complex (ADC) (4%) and acute inflammatory demyelinating polyneuropathy (AIDP)(4%). tuberculous meningitis (TBM) was the most common presentation as secondary CNS illness (34%), followed by cryptococcal meningitis (14%), toxoplasmosis (10%), progressive multifocal leucoencephalopathy (PML) (8%) and neurosyphilis (4%). Meningitis was presenting CNS manifestation in majority of patients. The commonest presentation of TBM was fever (64%), while headache for cryptococcal meningitis (71%) and seizures was that of toxoplasmosis (80%). Mean CD 4 count was 170 ± 80.1 in patients of DSPN, 131 ± 85.75 for TBM, 47.5 ± 36.8 for cryptococcal, 160 ± 77.4 for toxoplasmosis and 93 ± 65 for ADC. Conclusion High degree of clinical suspicion of nervous involvement in HIV patients at all stages help in early diagnosis and institution of specific therapeutic measures which in turn decrease mortality and morbidity.

230 Does Electroencephlography Help in Early Diagnosis of Subacute Sclerosing Panencephalitis

Background: To find out the role of electroencephlography in the early diagnosis of subacute sclerosing panencephalitis. It will be a cross sectional observational study conducted at department of Neurology Children's Hospital, Lahore from April 15, 2005 to September 15, 2009. Methods: Children between the ages of 4 to 18 years (n=129) with myoclonic jerks were admitted in Neurology department. History and clinical examination was carried out and EEG and CSF antimeasles antibodies were performed. Children may have EEG findings consistent with SSPE (EEG abnormalities having burst suppression in high amplitude slow and sharp waves recur at 3-5 second interval on slow background) or other EEG findings like myoclonic epilepsy with normal back ground, normal EEG etc. CSF of all children was sent for antimeasles antibodies for further confirmation which was considered diagnostic. Brain imaging was done in all children to exclude other possible diagnosis. Results: Total of 59 patients with EEG findings of subacute sclerosing panencephalitis were further confirmed with CSF anti measles antibodies. It was positive in 57 children. (P value < 0.05). While ten children had negative EEG findings and all of them had negative results for CSF antimeasles antibodies. Conclusion: Subacute sclerosing panencephalitis is not an uncommon entity in our population with quite variable clinical presentation and electroencephlography has significant valve in early, cost effective and reliable diagnosis.

Studying electrophysiological characteristics in children with congenital sensory nystagmus‐ case presentations

Abstract Purpose In classification of sensory congenital nystagmus (CN) is important to recognize the underlying retinal or visual pathway dysfunction. The aim was to distinguish ERGs and VEPs charcteristics which may identify among variety of disorders associated with sensory CN. Methods In infants and small children that were ophthalmologically classified as sensory CN were ERGs and VEPs recorded simultaneously in the same session. ERGs were detected without dilated pupils and with skin electrodes. Under darkened laboratory conditions were ERGs recorded to white (cone/rod mediated response) and dim blue (rod mediated response) flash and under lighten room were ERGs recorded to white, red and 30 Hz flicker flash (cone mediated responses). VEPs were recorded from three occipital electrodes to flash and onset stimulation. Results Cases with abnormal ERGs showed: in Leber’s congenital amaurosis were undetectable both rod and cone mediated responses from early infancy; in cone‐rod retinal dystrophy abnormal cone and rod mediated responses progressed in time; in achromatopsia abnormal cone mediated responses did not progress in time; in congenital stationary night blindness a negative ERG did not progress in time. Cases with abnormal VEPs showed: in ocular albinism VEP contralateral asymmetry; in achiasmia VEP ipsilateral asymmetry; in severe optic nerve hypoplasia flash VEP was non‐recordable, while in moderate optic nerve hypoplasia flash and pattern onset VEP findings might not correlate with clinic findings. Conclusion Sensory CN is associated with a variety of disorders affecting the retina, optic nerve, chiasm and electrophysiology may characterize retinal or postretinal pathway dysfunction and therefore help in early diagnosis.

Alcohol and dilated cardiomyopathy.

Alcohol has been considered a cardiotoxin for over a century, but the pathogenesis and natural history of alcohol-related heart disease remains obscure. The diagnosis still rests on the coincidence of alcoholism and a dilated hypocontractile heart in the absence of any other cause of dilated cardiomyopathy. Advances have been made in our understanding of the effects of acute and chronic alcohol administration both at a haemodynamic and cellular level, and recent studies have indicated that preclinical changes in LV dimensions and function are common in alcoholics. It is not known whether clinical cardiomyopathy, which develops in only 1-2% of heavy drinkers, occurs because of genetic predisposition, or the presence of synergistic cardiovascular risk factors. Abstinence remains the mainstay of treatment, but the prognosis is poor after development of frank heart failure.

Congenital spinal tuberculosis associated with asymptomatic endometrial tuberculosis: A rare case report

Spinal tuberculosis constitutes 50% of all musculoskeletal tuberculosis. However, literature regarding congenital spinal tuberculosis is very scanty. Congenital spinal tuberculosis was diagnosed in a two-month-old child on the basis of age at presentation (gibbus since three weeks of age), hepatomegaly, raised ESR, radiological destruction of D10–D11 vertebrae, asymptomatic maternal endometrial tuberculosis and tuberculous histopathology from CT guided biopsy specimen from D10 vertebra. Both child and mother were treated by antitubercular treatment. Child improved symptomatically, gibbus became less prominent and ESR became normal at the end of one year of treatment. Patient had no recurrence during last two years of follow-up. This is the first case of congenital tuberculosis of spine with a documented source of infection from asymptomatic maternal endometrial tuberculosis. CT guided core biopsy from vertebra/aspiration from the paravertebral abscess help in early diagnosis and treatment to reduce neurological morbidity and mortality. Endometrial biopsy help in establishing the diagnosis of congenital tuberculosis and adequate antitubercular treatment in such cases may provide protection to fetus in subsequent pregnancy.

Why we missed an early diagnosis of cerebral aspergilloma: Lesson from a case

Intracranial aspergilloma is a dreadful CNS infection with nonspecific clinical manifestation and radiological features. Therefore, delay in the diagnosis is common, resulting in a fatal outcome in almost all the cases. We present how the diagnosis of this condition is overlooked if we do not follow the conventional medical rules of taking history and thorough preoperative evaluation. These clinicoradiological points can be of help in early diagnosis and better outcomes.

Congenital vaginal obstructions: varied presentation and outcome

Congenital obstructing lesions of vagina, hydrometrocolpos, and hematocolpos, present at a variable time during early childhood and adolescence to different medical and surgical specialties. Twenty-six cases presenting over an 18-years period (1987-2005) were divided into three groups; Group A: neonates (6), Group B: adolescents (18), and Group C: adults (2). Common presentations in neonates (Group A) were abdominal mass (5), neonatal sepsis (3), and respiratory distress (2); whereas abdominal pain (18), voiding dysfunctions (13), and backache (7) were prevalent in adolescents (Group B). Adults (Group C) presented with inability to consummate and infertility (2). Four patients received erroneous treatment; exploratory laparotomy (1) and appendectomy (3). Urinary symptoms and associated urinary abnormalities were present in more than 50% of cases, especially those with complex anomalies. Management included excision of imperforate hymen (16) and transverse vaginal septum (8) through perineal (20) and abdominoperineal approach (4). Patients with urogenital sinus (1) and cloacal malformation (1) had staged reconstruction at 2.5 years of age following preliminary vesicostomy and colostomy at birth. On follow up (range 1-15 years; mean 7) more than 60% patients have menstrual irregularity (11), endometriosis (5), and infertility (4). In conclusion, rarity and variable presentation of congenital vaginal obstructions can lead to delayed diagnosis and erroneous management. A high index of suspicion and cross-sectional imaging help in early diagnosis and associated renal anomalies. A comprehensive management is imperative to preserve the reproductive potentials, as significant proportion of patients may experience sexual difficulties, menstrual irregularity, and infertility.

Williams syndrome: Pediatric, neurologic, and cognitive development

This study examines the developmental history of 32 Williams syndrome patients, positive to the fluorescence in situ hybridization (FISH) test. The information is intended to provide help for early diagnosis and appropriate stimulation of these patients. In the sample reported here, only about half of the patients referred with presumptive diagnosis were in fact FISH+, indicating that facial dysmorphism may not be the most reliable sign for diagnosis. Initial pediatric signs are developmental delay and nocturnal irritability. In consultation, facial dysmorphies and heart murmur are detected. There is also low birth weight, failure to thrive, unsuccessful breastfeeding, and gastroesophageal reflux. All these symptoms are strongly suggestive of Williams syndrome. Subsequent steps consist of cardiologic studies. Our results indicate that the triad of symptoms consisting of infantile hypercalcemia, dysmorphic facies, and supravalvular aortic stenosis, which until recently was considered fundamental for Williams syndrome diagnosis, is not usually present and does not lead to an early diagnosis. Cognitively, these children are characterized by hypersociability, hyperacusia, deficient visuoconstructive abilities, attentional deficit and hyperactivity, and in some cases, spontaneous musical interests. There are no special verbal skills. The results of this study indicate that the concept of Williams syndrome patients as language- and musically-gifted is not fully accurate.

Tumor and skeletal imaging in bone carcinoma: an experimental demonstration.

Radiostrontium and 99mTc pyrophosphate accumulated in bone reacting to tumor invasion but not in the experimental bone tumor itself. Both 67Ga and 99mTc bleomycin were concentrated in the tumor as well as in the reacting bone. This discrimination of tumor affinity from skeletal delineation was illustrated by radioisotopic imaging in rabbits. The finding appears to imply that scanning with 67Ga and 99mTc bleomycin would be of help in early diagnosis of bone metastases and in delimiting fields of surgery and teletherapy in the absence of detectable radiographic abnormalities.

Prospects of 67 Ga scanning in bone neoplasms.

Because of its high positivity in lung cancer, 67Ga tumor scanning was extended to six selected bone neoplasms. A bone cyst was not demonstrated on the scan, but positive delineation was achieved in malignant bone lesions of osteogenic sarcoma and metastatic breast cancer. Scans were also positive for benign bone lesions of giant-cell tumor, histiocytosis X, and enchondromatosis. Because of its tumor affinity, 67Ga scanning would be a great help in early diagnosis of bone metastases and in delimiting fields of teletherapy in the absence of detectable x-ray abnormalities.

Rocky mountain spotted fever in the eastern United States.

The majority of 13 cases of Rocky Mountain spotted fever from an endemic focus of the disease in the Cape Cod area of Massachusetts were diagnosed late, and two patients died. However, earlier diagnosis, earlier initiation of specific therapy, and prevention of fatalities should have been possible. Clinical, epidemiologic and laboratory data highly suggestive of the disease were almost all available early in the first week of illness to help in the diagnosis. There was high fever, severe headache, toxicity, mental confusion and myalgia. A generalized measles-like rash involved the palms and soles in almost all cases. Cases occurred seasonally between April and September, sharply restricted geographically to a known endemic focus, and predominantly in children. Complement-fixing and Weil-Felix antibodies rose late in the second week and were of no help in early diagnosis. Thrombocytopenia was surprisingly frequent, occurring in seven of 11 patients tested.

Major arterial injury complicating fracture of the femoral shaft.

1. Three cases of injury to the femoro-popliteal artery complicating fracture of the femoral shaft are described. 2. In all three cases restoration of peripheral circulation by arterial repair carried out within ten hours of injury succeeded in saving the limb from permanent damage. 3. The importance of adequate resuscitation, early diagnosis and early adequate surgical intervention is stressed. 4. The mechanism of injury and the clinical features of help in early diagnosis are discussed. 5. The place of internal fixation of the femoral fragments is discussed and its advantages and disadvantages are compared with those of treatment by skeletal or skin traction.

EPIDURAL SPINAL ABSCESS

The consequences of an unrecognized purulent collection in the epidural space can be so devastating that further emphasis on the clinical syndrome accompanying this lesion has ample justification. Although over 200 cases are reported in the literature and recent reviews by Gasul and Jaffe, 1 Browder and Meyers 2 and Campbell 3 have drawn attention to this condition, nevertheless the high percentage of delayed diagnoses with resulting irreversible cord damage causing severe and permanent neurologic sequelae warrant a further report. The 14 cases on which this communication is based furnish no new nor striking clinical information. But the antecedent history and development of symptoms is so uniform that repetition is justified, if only to remind the profession, that this condition does exist, to describe again its salient features and thereby, perhaps, help in early diagnosis and prompt operation. For unless realization is widespread among medical men that epidural infection can