Investigating potential roles of extruded flaxseed and α-tocopherol acetate supplementation for production of healthier broiler meat.

The present study was conducted to evaluate the role of extruded flaxseed (EFS) and α-tocopherol acetate (ATA) for the enhancement of polyunsaturated fatty acids ratio (PUFA) over saturated fatty acids (SFA) in broiler meat as a source of healthier meat. A total of 96 one-d-old Cobb 550 broilers were randomly divided into 8 treatments with three replicates having 4 birds in each. EFS (extruded at 155°C) at 100, 150 and 200 g/kg alone and in combination with ATA at 200 mg/kg were supplemented through normal feed from the third week onward. During the 6-week growth period, body weight gain (BWG), feed intake (FI), feed conversion ratio (FCR) and mortality were recorded. At slaughter, weight of liver, heart and kidney and fat content in breast and leg meat were measured. Fatty acid profiles in breast and leg meat were developed to estimate the PUFA to SFA ratio. The results revealed that FI and FCR changed significantly in all groups and BWG increased in all the supplemented groups. The weight of liver, kidney and heart increased more in the supplemented group containing the maximum level of EFS with ATA compared with single supplementation of EFS. The fat content in breast and leg meat decreased as the inclusion level of EFS increased. The level was low in leg meat compared with breast meat. Mortality decreased in all supplemented groups. The PUFA to SFA ratio was significantly higher in leg meat (3.23) compared with breast meat (1.81) and the study therefore indicates that ATA and EFS supplementation could be used to improve the PUFA to SFA ratio in broiler meat.

Fe-Mediated Tweaking of Band Bending and Activation Energy in α-MoO3 Nano Lamella for Enhanced NO2 Gas Detection Under Low Operating Temperature.

Concern over increasing pollution and ways to mitigate it is in high demand due to the swift advancement of technology and the creation of advanced utilities. Nitrogen oxide (NO2) is a well-known evolved toxin that poses a threat to human health, the environment, and biodiversity. Therefore, several works are carried to sense the NO2 gas at its trace concentration. However, the majority of NO2 sensors that have been reported have inadequate Limit of Detection (LOD), high operating temperature, and low sensitivity. Orthorhombic molybdenum oxide (α-MoO3) recently emerged as hotspot in the gas sensing research and noted for its high sensitivity, and distinct sensing capabilities owing to its unique layered structure. In this study, Fe-doped α-MoO3 nanosheets for NO2 sensing is prepared, and at a low operating temperature of 110 °C, an excellent sensitivity of 1282% for 10 ppm of NO2 is achieved. Long-term stability, good repeatability, and an ultra-low detection limit of 79 ppt are also demonstrated by the manufactured sensors. In addition, the obtained low activation energy of -2.9 KJ mol-1 and the high band bending for FM6 supports the highly responsive NO2 detection at low operating temperatures.

Thyroid Status in Children with Transfusion Dependent Thalassemia in a Tertiary Level Hospital.

Most of the thalassemic children of Bangladesh are receiving repeated blood transfusion. But they do not receive chelation therapy due to financial constraints. As a result, iron overload occurs in various organs of these children. Extra iron that is loaded in thyroid gland causes thyroid dysfunction. This study was undertaken to evaluate thyroid status in children with transfusion dependent Thalassemia patient. This cross-sectional analytical study was conducted in the Department of Pediatrics, Mymensingh Medical College Hospital, Bangladesh from September 2016 to April 2018. Children having thalassemia diagnosed by Hb electrophoresis, aged 3-12 years of both sexes were included as study group. Children of same age and sex admitted in indoor of Mymensingh Medical College Hospital with minor illness and without thalassemia were taken as comparison group. Purposive Sampling technique was applied. Serum FT4, TSH and ferritin level were estimated in all children. Data analysis was done with Statistical Package for Social Science (SPSS) version 21.0. A total of 60 patients were enrolled as study group and another 60 patients were compared as comparison group. Mean ages of study group was 7.88±2.55 years and comparison group were 7.22±2.48 years. The mean pre-transfusion hemoglobin, serum ferritin, serum FT4 and serum TSH level were found 6.23±0.60 gm/dl, 2658.33±879.39 ng/ml, 15.14±4.40 fmol/mL, 4.29±4.60 µIU/mL respectively in study group. The mean serum FT4 was found significantly lower and mean serum TSH was significantly higher in thalassemic children in comparison to non-thalassemic children (p= <0.05). Frequency of subclinical hypothyroidism was found significantly higher in study group (25.0%) compared to comparison group (3.3%) (p=0.001). Mean serum ferritin level was found significantly higher in hypothyroid cases. Mean FT4 level was significantly lower and mean TSH level was significantly higher in hypothyroid thalassemic patients (p= <0.001). Significant positive correlation between serum ferritin level and serum TSH level was found. Higher serum ferritin level was found significantly associated with the development of hypothyroidism in thalassemic patients.

Molecular description of plasmid-mediated AmpC ß-lactamases among nosocomial isolates of Escherichia coli & Klebsiella pneumoniae from six different hospitals in India.

BACKGROUND & OBJECTIVES: Plasmid mediated AmpC ß-lactamase (PMABL) resistance in Escherichia coli and Klebsiella spp. is an emerging problem worldwide. Phenotypic methods are commonly used for detection of PMABL production in Gram-negative isolates, but molecular data about the prevalence of plasmid-mediated AmpC-type resistance at the national level are needed. Hence, a prospective study was undertaken to determine the occurrence of PMABL gene and its types among clinical isolates of E. coli and K. pneumoniae obtained from six different hospitals in India. METHODS: A total of 241 nosocomial isolates of K. pneumoniae (n=109) and E.coli (n=132) from six geographically distant hospitals in India were included. These were screened for cefoxitin resistance. AmpC disk test and modified three dimensional extraction test were used for phenotypic detection of PMABL production. Molecular types were determined by a multiplex PCR. RESULTS: Among the 241 isolates, 187 (77.5%) were found to be cefoxitin resistant (K. pneumoniae n=83, E. coli n=104). AmpC activity was detectable in 153 (63.4%) isolates, (K. pneumoniae n=69, E. coli n=84). By PCR, the plasmid encoded AmpC genes were found in 92 (38.1%) isolates and the molecular types of the genes detected predominantly were DHA, CIT followed by MOX and ACC types. INTERPRETATION & CONCLUSIONS: A high percentage of plasmid-encoded AmpC enzymes was noted in E. coli and K. pneumonia isolates obtained from different parts of the country. Phenotypic methods alone may not reflect the true number of PMABL producers. Genotypic methods need to be employed in national surveillance studies.

Study of CTX-M Type of Extended Spectrum ß-Lactamase among Nosocomial Isolates of Escherichia coli and Klebsiella pneumoniae in South India.

Data on CTX-M type extended-spectrum ß-lactamase (ESBL) produced by Gram-negative bacteria by molecular methods are limited from India. This study was conducted to investigate the prevalence of CTX-M type ESBL producing Escherichia coli and Klebsiella pneumoniae from nosocomial isolates in a tertiary care hospital in southern India. A total of 179 clinical isolates of K. pneumoniae (n = 72) and E. coli (n = 107) were obtained in a period of 3 months and assessed for ESBL production phenotypically. Associated resistance to a panel of antibiotics and Minimum Inhibitory Concentration for 3rd generation cephalosporins was determined. Phenotypically ESBL positive isolates were subjected to PCR for blaCTX-M gene using two sets of primers for the simultaneous detection of all the five major groups of CTX-M types. All the positive isolates were then subjected to a group specific PCR to detect the prevalent group. Out of 179 isolates, 156 (87.1%) were positive for ESBL phenotypically, which includes 39.2% of K. pneumoniae and 60.8% of E. coli. All of them were examined by PCR using two primers for the presence of blaCTX-M genes. Among the 156 phenotypic positive isolates, 124 (79.4%) were positive for blaCTX-M genes, of which 45 (36.2%) were K. pneumoniae, 79 (63.7%) were E. coli. When the 124 positive clinical isolates were further tested with CTX-M group-specific primers, all were positive for the CTX-M-1 group. Our findings document evidence of the high prevalence of multidrug resistant CTX-M group 1 type ESBL among nosocomial isolates in this region. High co-resistance to other non-ß-lactam antibiotics is a major challenge for management of ESBL infections. This is alarming and calls for the judicious use of carbapenems, especially in developing countries. This has significant implications for patient management, and indicates the need for increased surveillance and for further molecular characterization of these isolates.

Formulation of PEG-ylated L-asparaginase loaded poly (lactide-co-glycolide) nanoparticles: influence of Pegylation on enzyme loading, activity and in vitro release.

The present paper describes the advantage of PEG-ylation of L-asparaginase before encapsulation over its incorporation in the native form. During encapsulation a considerable amount of native protein undergoes denaturation and forms insoluble aggregates. In an effort to overcome this problem, L-asparaginase was PEG-ylated before subjecting it to the harsh conditions as encountered during double emulsion solvent evaporation technique. L-asparaginase was conjugated with succinimidyl succinate derivative of polyethylene glycol (SS-PEG, MW 5000) followed by characterization of the formed conjugate using size exclusion-HPLC and SDS PAGE. The PEG-ylated L-asparaginase consisted of different isomers from mono to multi PEG-ylated depending upon the number of Lysine residues (14 in case of L-asparaginase) with about 5% as native protein. The specific activity as retained after PEG-ylation was 62.84 +/- 8.2% and further about 82.7% of activity was recovered from the particles. Imitated studies with the native protein confirmed the enhanced stability of the conjugated protein when exposed to the organic solvent and sonication and showed comparatively less encapsulation efficiency due to increased hydrophilicity. Release profiles for native as well as conjugated proteins consisted of sustained release of about 66.66% and 44.45% in 28 days, respectively. The decrease in the release can be attributed to the increase in the molecular weight of the conjugated protein. The study finally proved that PEG-ylation protected the enzyme and prevented it from denaturation during encapsulation.

Exposure to Toluene Di-isocyanate and Respiratory Effects in Flexible Polyurethane Foam Industries in Western India.

BACKGROUND: Flexible foam industry largely uses 2,4 and 2,6 Toluene di-isocyanate as main raw materials and chronic exposure to its result in occupational asthma. The exposure to di-isocyanates might be higher due to the usage of obsolete technology, hand-mixing methods and working in confined spaces with insufficient local exhaust ventilation systems in developing countries. Exposure studies in flexible foam industries have not been done in developing countries. OBJECTIVE: The present cross-sectional study was conducted to evaluate toluene di-isocyanate (TDI) exposures and respiratory health of the workers working in the seven flexible polyurethane foam industries located in Western India during 2010-2013. METHOD: A total of 128 personal air samples collected and evaluated for total TDI concentration using improved Occupational Safety and Head Administration method number 42. Then 194 workers were covered for complete clinical examination and spirometry for assessing respiratory health. RESULTS: In all, 17.83% of air samples exceeded the ACGIH TWA-TLV of 0.005 ppm for TDI. Though only 11 (5.6%) workers had respiratory complaints, the spirometry revealed that 19 (9.8%) and four (2.1%) had restrictive and obstructive type of pulmonary function impairment, respectively. CONCLUSION: The TWA concentration of TDI exceeded at raw material storage, mixing, foaming, block cutting and curing areas in four out of seven industries even in the presence of local exhaust systems. The respiratory health effect is less when compared to exposure to TDI, suitable preventive and control measures were suggested based on the study findings to the stakeholders to prevent the increase of respiratory health effects.

Ampc Beta lactamases among gram negative clinical isolates from a tertiary hospital, South India.

AmpC ß-lactamases are cephalosporinases that hydrolyze cephamycins as well as other extended-spectrum cephalosporins and are poorly inhibited by clavulanic acid. Although reported with increasing frequency, the true rate of occurrence of AmpC ß-lactamases in different organisms, including members of Enterobacteriaceae, remains unknown. The present study was designed to determine the occurrence of AmpC enzyme-harbouring Gram-negative clinical isolates in a tertiary care hospital in Pondicherry state, South India. A total of 235 Gram negative clinical isolates were tested for resistance to cefoxitin, third generation cephalosporin (3GC) antibiotics, ampicillin, amikacin, co-trimoxazole, gentamicin, meropenem and tetracycline by disc diffusion method. Isolates found resistant to 3GC and cefoxitin were tested for the production of AmpC ß -lactamases by three dimensional extraction method and AmpC disc method. Isolates found to sensitive to 3GC were subjected to disc antagonism test for inducible AmpC production. One hundred and thirty four (57%) strains were resistant to 3GC, among which 63(47%) were positive for plasmid-mediated AmpC beta lactamases production. Among the 101 strains sensitive to 3GC, 23 (22.7%) revealed the presence of inducible AmpC beta lactamases by disc approximation test. A total of 80.9% (51/63) of screen positive isolates were detected by Amp C disc test and 93.6% (59/63) by three dimensional extraction method. Out of the 86 AmpC producers, 67 (77.9%) were cefoxitin resistant .Inducible AmpC was not found in Esch.coli and Klebsiella spp. The AmpC producers also concurrently showed multidrug resistance pattern. AmpC producers were found to be prevalent in our hospital and though three dimensional extraction test detects AmpC better, the disk test is easier to perform routinely and is user- friendly.

Use of Remdesivir in the Management of COVID-19: A Systematic Review on Current Evidences.

The rapid progression of corona virus disease in 2019 (COVID-19) pandemic has become an unprecedented global concern. This systemic review aimed at evaluating the available evidence on efficacy, safety to identify any promising role for compassionate use of remdesivir in patient suffered for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) as re-purposeful use. We searched PubMed, EMBASE, Cochrane Library for randomized controlled trials (RCTs), prospective case series studies and case reports that evaluated use of remdesivir in COVID-19. The outcomes were mortality, recovery rate, length of hospital stay and clinical outcome. Though the drug remdesivir (RDV) is not approved by the FDA, still the "Emergency Use Authorization" (EUA) for compassionate use in severe cases is endorsed. After vigorous searching, screening and sorting of completed and published scientific evidences in electronic database, there were only 2 randomized control trial (RCT), 2 uncontrolled trials found until April 2020. We also included 3 published case reports to analyze the validity use of RDV because of the scarcity of evidence based reports. Remdesivir was thought to be one of the promising options for treating the patients of COVID-19 based on few laboratory experiments and reports from some compassionate use and case reports. The safety and efficacy of this drug in COVID-19 cases require high-quality evidence from well-designed and adequately-powered clinical trials with proper sample size for precise decision.

Kikuchi-Fujimoto disease.

A 14 year-old Bangladeshi girl presented with high fever, painful swellings in the neck, anorexia, weight loss and night sweating. On examination she had multiple enlarged and tender cervical lymph nodes. Other systems were normal. Laboratory investigations for sepsis and autoimmune diseases were negative. Initial fine needle aspiration and cytology of affected lymph node was suggestive of tubercular lymphdenitis. But she did not respond to anti-tubercular treatment. Kikuchi-Fujimoto disease was diagnosed from the histopathological appearance of excised lymph node. She completely recovered with symptomatic treatment. Kikuchi-Fujimoto disease, also called Kikuchi's disease or histiocytic necrotizing lymphadenitis is a rare, benign but enigmatic disease of unknown aetiology. The disease is self-limited and has an excellent prognosis. Its recognition is crucial because it can be mistaken for systemic lupus erythematosus, malignant lymphoma, tubercular lymphadenitis or even, for metastatic adenocarcinoma. Clinicians' and pathologists' awareness of this disease may help prevent misdiagnosis and inappropriate treatment.

The Pattern of Serum Calcium, Phosphate and Parathyroid Hormone Levels in Pre-Diagnosed Chronic Kidney Disease Patients.

Chronic kidney disease (CKD) is an international health problem affecting 5-10% of the world population. Patients with chronic kidney disease were known to have higher prevalence of changes in serum calcium, phosphate and parathyroid hormone in Western countries, but data on the impact of CKD on serum calcium, phosphate and parathyroid hormone in our country are scarce. This cross-sectional type of descriptive study was conducted in the Department of Medicine, Mymensingh Medical College Hospital, Mymensingh, Bangladesh from March 2016 to September 2016. The aim of this study is to estimate serum calcium, phosphate and parathyroid hormone levels in chronic kidney disease (CKD) patients for early recognition of abnormalities, understanding of their patho-physiological consequences & planning management strategies to prevent their progression, thus reducing the morbidity & mortality. This study shows Hypocalcemia, hyperphosphataemia and elevated serum PTH levels are noted in later CKD stages & worsen with disease progression.

Pattern and Extent of Tricuspid Valve Involvement in Chronic Rheumatic Heart Disease.

Rheumatic heart disease causes a significant number of morbidity and mortality in Bangladesh. Although the mitral and the aortic valve are the two most involved valves in rheumatic heart disease, the tricuspid valve disease is not uncommon secondary to, or in association with, mitral or aortic valve disease, but receives less attention as compared to the primary left-sided valve disease. Appropriate treatment of the tricuspid valve disease may improve long-term functional outcome. But the pattern and extent of the tricuspid valve involvement was not studied recently. This study was carried out to observe the pattern and extent of tricuspid valve involvement in Rheumatic Heart Disease patients. This observational analytical study was undertaken in the department of Cardiology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from December 2010 to September 2011. Considering all ethical issues, data were collected from 173 subjects who underwent Echocardiography for their Chronic Rheumatic heart disease. Pattern of tricuspid valve involvement was observed by using Transthoracic Echocardiography by 2D, M mode and Doppler assessment. One hundred seventy three (173) patients with Rheumatic Heart disease was studied, out of these, 36 patients had evidence of tricuspid valve involvement based on echocardiographic findings. Fifteen (15) patients had Tricuspid stenosis and 36 patients had Tricuspid Regurgitation in the patients with TV involvement. All the patients with TV involvement had thickened leaflets. Doming, restriction of motion and calcification were present in different proportions. From this study, it can be concluded that organic tricuspid valve involvement in RHD is not uncommon in our country.

Association between Serum Apolipoprotein-B and Acute Ischaemic Stroke.

Stroke is one of the leading causes of death and disability in developed as well as developing countries like Bangladesh. There is a crucial need to identify additional risk factors that are easily measurable and treatable in general population. Role of serum lipids, lipoproteins and lipoprotein related variables in the prediction of stroke is less clear. Abnormalities in plasma lipoproteins are the most firmly established and best understood risk factors for atherosclerosis and they are probable risk factors for ischaemic stroke, largely by their link to atherosclerosis. High serum apolipoprotein-B (Apo-B) levels may predict an increased risk for ischaemic stroke. Aim of the study was to evaluate the association between serum Apo-B level and acute ischaemic stroke and to measure and compare serum Apo-B level in ischaemic stroke and normal subjects. A cross-sectional comparative study was carried out in the department of Neurology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh from July 2013 to June 2015. A total number of 100 subjects within 18-70 years were considered for the study. Fifty (50) subjects with stroke (both clinically as well as CT scan of head or MRI of brain proven) were taken as the cases and 50 age and sex matched nearly healthy individuals without stroke were taken as the controls by using non-probability sampling procedure. Total cholesterol, HDL cholesterol and triglycerides were estimated by enzymatic method using Semiautoanalyser. LDL cholesterol was estimated by Friedewald formula. Apo-B was estimated by immunoturbidimetric method using Semiautoanalyser. Finally collected data were analyzed by using SPSS software Version 20. Student 't' test was used to compare the data between cases and controls. P value was set <0.05. Diagnostic validity tests were conducted to assess the diagnostic efficiency of Apo-B. Total cholesterol, LDL cholesterol and triglycerides are significantly increased in cases compared to controls. HDL-cholesterol was significantly decreased in cases compared to controls. Apo-B was significantly increased in cases compared to controls. The result was statistically significant. Apo-B may be used as predictors of ischaemic stroke components.

The technique of detecting systolic and diastolic pressure from the transducer output of a PC-based blood pressure monitoring system.

A pressure to voltage transducer is used along with a cuff, in a PC-based blood pressure and pulse rate monitoring system for human body. During the blood pressure measurement cycle, the output voltage of the pressure to voltage transducer is recorded digitally using a data acquisition system. The recorded data are then analyzed using software routines to determine the blood pressure and pulse rate of the person under test. However, it is difficult to identify the points of systole and diastole correctly from the recorded data. This paper presents the technique that may be used to determine the systolic and diastolic pressure from the collected data.

Prevalence of GERD in Type II Diabetes Mellitus Patients Admitted in A Tertiary Care Hospital of Bangladesh.

Gastroesophageal reflux disease (GERD) is defined as symptoms or complications associated with regurgitation from the stomach and/or the duodenum to the esophagus. Patients with type II diabetes mellitus (DM) were known to have higher prevalence of GERD in the Western countries, but data on the impact of GERD on DM patients in our country are scarce. The aim of this cross-sectional study was to evaluate the presence of GERD in type II DM patients admitted at the Department of Medicine, Mymensingh Medical College Hospital, Mymensingh, Bangladesh from April 2015 to September 2015. A total of 137 type II DM cases were purposively collected. Reflux Disease Questionnaire (RDQ) was used to check the presence of GERD. Patient's characteristics, laboratory data, face-to-face interview data were analyzed. Out of 137 type 2 DM patients 108 were suffering from GERD giving a prevalence rate of 78.8% which is quite high. Pathophysiological factors like age, sex, duration of DM, weight, waist circumference (WC) had no significant difference between GERD-DM and non-GERD-type II DM patients. Only hypertension and frequent eating fatty food were found to have significant differences between the two groups. From the study findings it could be said that the higher rate of GERD in patients with type II DM may be associated with lifestyle factor and some pathophysiological factors like hypertension. Psychiatric factors may also play role in contributing GERD. Further in-depth and large scale studies are necessary in our country in this regard.

Depression among Indian university students and its association with perceived university academic environment, living arrangements and personal issues.

The aim of the study is to ascertain the level of depression among university students across gender, academic stream, semesters, perception of family environment and relationship with parents, academic performance, and family income. In addition, the study examines the association between students' perceived university academic environment, living arrangements, personal issues, and depression. Seven hypotheses were formulated for verification. A total of 717 students were recruited following the multistage cluster sampling method, and data were collected by a specially designed structured questionnaire, academic achievement record and a standardized University Students Depression Inventory. Findings disclosed that 37.7%, 13.1%, and 2.4% of the students were suffering from moderate, severe, and extremely severe depression. A significant difference was found across semester, that is, semester II students reported a higher level of depression than semester III students. So far as academic stream is concerned, students from humanities and social science were found to be suffering from more depression compared to students from science and management streams. The study further disclosed that the students who reported positive views about the university academic environment and living arrangements had lower level of depression compared to their counterparts. Personal resilience's such as being able to sharing personal problems with others and doing regular exercise were found to be associated with positive mental health. The findings of the study emphasize the need for immediate mental health support services for about 15.6% of the students who were either suffering from severe or extremely severe depression at the University.

The effect of gluconeogenesis on phospholipid turnover in isolated chick proximal tubule cells.

Previous work from this laboratory has shown that isolated chick renal proximal tubule cells possess an Na+-dependent Pi transport system and that Pi uptake is stimulated under gluconeogenic conditions. It is shown in the present paper that gluconeogenesis is associated with a rapid incorporation of Pi into membrane phospholipids, particularly phosphatidylinositol, and some evidence has been obtained for a change in the relative amounts of phosphatidylinositol polyphosphates under gluconeogenic conditions. There is no increase in the total phospholipid phosphate content however, suggesting that pyruvate-induced incorporation of Pi into phospholipids represents accelerated turnover rather than a net increase in synthesis. It is suggested that the stimulation of Na+-dependent Pi uptake by pyruvate is related to the increased rate of phospholipid turnover. Thus Pi transport may be a further example of a physiological system that is influenced by phosphatidylinositol metabolism. The role of phosphatidylinositol phosphates could be to stimulate transfer of transporter molecules from internal stores to the brush-border membrane of the cell.

Lack of a direct role for cyclic AMP in parathyrin action on phosphate reabsorption by the kidney.

Isolated chick kidney proximal tubule cells have been used in a study of the mechanism by which PTH inhibits Na+-dependent Pi transport in the kidney. Treatment with PTH inhibits Pi uptake by the cells by 13% and stimulates cyclic AMP production by 77%. Forskolin, a potent activator of adenyl cyclase, brought about an 11-fold stimulation of cyclic AMP production by the cells, but in contrast to PTH, the drug had no effect on Na+-dependent Pi uptake. These results provide evidence that PTH action on phosphate transport is not mediated by cyclic AMP.

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

AIMS: To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. METHODS: Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. RESULTS: Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in affected individuals. Numerous symptoms experienced by the patients were attributable to this mutation. CONCLUSION: A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. This is the first case of amyloidosis type V described in the UK. This emphasises the importance of recognition of the extraocular manifestations of eye disease both in the diagnosis and management of the patient. In addition, these findings can help molecular geneticists in their search for disease-causing mutations.