Lynch syndrome: An unusal case of familial cancer unearthed

Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a type of inherited cancer syndrome with a genetic predisposition to different types of cancer. There is an increased predisposition to cancers in the endometrium, colon, stomach, ovary, uterus, skin, kidney, and brain in patients of Lynch syndrome. We are reporting a 48-year-old male who presented with a pea-sized growth in his left arm which was found to be sebaceoma on histopathology. On further detailed history, examination, and genetic study, it was proved to be a familial case of Lynch syndrome. The case is being reported to stress the importance of knowledge about clinical manifestation, associated neoplasms, and molecular genetic profile of Lynch syndrome which will enable physicians and pathologists to provide highly targeted surveillance and management for patients with high cancer risk.

Spectrum of Eye Disease in Diabetes (SPEED) in India: A prospective facility-based study. Report # 3. Retinal vascular occlusion in patients with type 2 diabetes mellitus

Purpose: To determine the proportion of people with type 2 diabetes mellitus (T2DM) attending large eye care facilities across India who have retinal vascular occlusion (RVO). Methods: A 6-month descriptive, multicenter, observational hospital-based study of people was being presented to the 14 eye care facilities in India. The retina-specific component of comprehensive eye examination included stereoscopic biomicroscopy, binocular indirect ophthalmoscopy, and fundus fluorescein angiography, and optical coherence tomography was also available when needed. Data recording of the duration of diabetes, hypertension (HTN), stroke, and other variables was obtained from the medical history. The statistical analysis included frequencies, mean, and standard deviations for continuous variables. Odds ratio (OR) and multivariate analysis were undertaken to assess the associations between risk factors and RVO. Results: The study recruited 11,182 consecutive patients (22,364 eyes) with T2DM. About 59.0% (n = 6697) were male. The mean age was 58.2 ± 10.6 years. In this cohort, RVO was detected in 3.4% (n = 380) of patients; 67.6% (n = 257) of them had branch retinal vein occlusion (BRVO) and the remaining 32.4% (n = 123) had central retinal vein occlusion (CRVO). The frequency of unilateral BRVO (n = 220, 85.6%) and unilateral CRVO (n = 106, 86.18%) was much common. Unilateral RVO was more frequent (n = 326, 85.8%) than bilateral diseases (n = 54, 14.2%) (?2 = 126.95, P < 0.001). Ischemic CRVO was more common (n = 103, 73.6%) than nonischemic CRVO (n = 37, 26.4%). Macula-involving BRVO was found in 58.5% (n = 172) of cases, suggesting more than 50% of cases in RVO carries a risk of severe vision loss. The duration of diabetes apparently had no influence on the occurrence of RVO. On the multivariate analysis, a history of HTN [OR: 1.7; 95% confidence interval (CI): 1.3–2.1; P = 0.001) and stroke (OR: 5.1; 95% CI: 2.1–12.4; P < 0.001) was associated with RVO. Conclusion: RVO is a frequent finding in people with T2DM. History of stroke carries the highest risk followed by HTN. The management of people with T2DM and RVO must also include comanagement of all associated systemic conditions.

Systemic diffuse large B-cell lymphoma masquerading as neovascular glaucoma

We describe a case of spontaneous hyphema associated with anterior uveitis presents in a 69-year old female as the prominent sign of the intraocular spread of systemic diffuse large B-cell lymphoma (DLBCL). She had a history of diabetes and initially misdiagnosed as neovascular glaucoma. Clinical history of systemic lymphoma, characteristic findings on B-scan ultrasonography and magnetic resonance imaging scan, and identification of atypical lymphoid cells in aqueous sample established the diagnosis of intraocular metastasis of systemic DLBCL. Therefore, this report highlights that life-threatening malignant systemic lymphoma may masquerade as anterior segment ocular inflammation or neovascular glaucoma.

Intralesional bleomycin in the treatment of cutaneous warts: A randomized clinical trial comparing it with cryotherapy.

Background: Though not in regular practice, intralesional (IL) bleomycin has been used for the treatment of warts since the 1970s and on the other hand, till now cryotherapy is quite regularly used to treat warts. Aim: Our aim was to assess the evidence for the efficacy of IL bleomycin, in comparison with a control group of similar sample receiving cryotherapy, in the treatment of cutaneous warts. Methods: Patients were randomized using computer-generated codes to receive either cryotherapy (double freeze-thaw cycle) or IL bleomycin (0.1% solution with concurrent anesthesia) for a maximum of four treatments 3 weeks apart and a maximum of five warts treated in each visit for both groups. Patients had their warts measured at base-line and with each return visit including a post treatment follow-up that was 8 weeks apart from last treatment taken. Results: Of the 73 patients completing the study, 39 (53%) were treated with IL bleomycin and 34 (47%) were treated with cryotherapy. Out of 155 treated warts, 87 (56%) were treated with IL beomycin and 68 (44%) were treated with cryotherapy. The clearance rates in context of number of patients and number of warts were 94.9% and 97% for bleomycin and 76.5% and 82% for cryotherapy respectively ( P < 0.05 by x 2 analysis and RR = 7.67). Conclusion: IL bleomycin injection was significantly more effective than cryotherapy for treatment of cutaneous wart.

Gallstone disease in a rural Bangladeshi community.

BACKGROUND: The prevalence of gallstone disease (GSD) in Bangladesh is not known. We evaluated the prevalence of GSD and its relation with certain factors in a rural community in Bangladesh. METHODS: A total of 1332 persons aged 15 years and above from two villages were invited to participate in the study; 1,058 (80%) subjects responded after three invitations. Each subject answered a questionnaire, including demographic features, and underwent an upper abdominal ultrasound examination. RESULTS: GSD (current cholelithiasis and history of cholecystectomy) was detected in 5.4% of subjects. The prevalence was higher in women (7.7%) than in men (3.3%; p=0.002) The prevalence rates increased from 0.9% to 10% (p=0.0124) from those aged <30 years to those >50 years. A larger proportion of obese subjects (25/52; 48.1%) had GSD than non-obese subjects (32/1006; 3.2%). Prevalence in low, middle and high socio-economic classes was 1.5%, 5.7% and 13.4%, respectively (p=0.000). A majority (71.9%) of subjects with GSD were asymptomatic. CONCLUSION: Approximately 5% of the Bangladeshi rural community evaluated have GSD. Higher age, female gender, presence of obesity and higher socio-economic class were associated with higher prevalence of GSD.

Prevalence of tuberculosis in Kishtwar Tehsil of Jammu region in Jammu and Kashmir State.

A study of prevalence of tuberculosis in Kishtwar tehsil of Jammu region was conducted from June 1991 to May 1992. A total of one thousand two hundred ninety-eight rural as well as urban population suffering from various types of lung diseases was studied for prevalence of tuberculosis and a sizeable number (98) of patients were found to be positive of various types of tuberculosis, viz, pulmonary tuberculosis, tuberculous pleural effusion and miliary tuberculosis. Of the population studied 7.55% were found to be positive for tuberculosis and among them 88.76% patients were anaemic and the commonest type of anaemia was normocytic normochromic and normocytic hypochromic. The ESR was raised in almost of all the patients. Of the population, 80.61% were seen to be positive on skiagram chest and 58.16% were found to be positive on other diagnostic tests like Mantoux's tests, sputum for acid-fast bacilli, etc. Mantoux's test was positive in 27.55% cases and sputum was positive in 30.61% cases. All the cases studied were subjected to special investigations. The changes in parameters are consistent with the diagnosis of tuberculosis. Large family size, poverty, excessive smoking, illiteracy, etc, are the major contributing factors.

Pattern of injuries in a hydro-electric project.

A study of work-related injuries at a hydro-electric project site (May 1991-April 1992) was undertaken to determine the incidence and pattern of the injuries out of a total number of 119 injuries in the year. A significant proportion of these were orthopaedic in nature and the commonest site of injury was limbs (both upper and lower limbs) like auto-amputations and head injuries. A large proportion of these accidents (24.37%) resulted in permanent disability likely to interfere in the normal activities or locomotion of those injured.

Anti-fertility activity and hormonal profile of trans-anethole in rats.

Trans-anethole was studied for antifertility activity in rats at dose levels of 50 mg, 70 mg and 80 mg/kg po. Dose-dependent activity was observed, a 100% anti-implantation activity being achieved at 80 mg/kg, po. The compound showed a significant estrogenic activity and did not possess anti-estrogenic, progestational, anti-progestational, androgenic or anti-androgenic activities. In an earlier study, the compound was found to be safe, its LD50 being more than 3000 mg/kg, po in mice.

Sporotrichosis in north-west India.

Twelve culture proven patients of sporotrichosis were seen over a period of 4 1/2 yr in the north-western region of this country. Most of the patients (75%) were from Himachal Pradesh, with slight female preponderance. The right upper limb was commonly (58.3%) involved; gardeners and housewives being the common sufferers. Localised lymphocutaneous variety was the commonest presentation (91.7%), except in one patient, where after initial involvement of the face, the lesion extended to the right upper limb and trunk. All but one patient responded to oral potassium iodide therapy; this patient with mixed infection of Sporothrix schenckii and Cladosporium species, required in addition, amphotericin B therapy.

Some observations on patients from two leprosy colonies in north India attending a city clinic.

Fifty-eight patients (26 males - mean age 52.5 years, 32 females - mean age 58.5 years) from two different leprosy colonies (Ambala and Jagadhari) were studied. Maximum number of the patients (48.4%) belonged to Uttar Pradesh. The clinical diagnosis was LLp:41(70.7%), LLs:14(24.2%), LL-burnt-out, BB-BL and BT: one each (1.7%). Mean duration of disabilities/deformities in these patients was 21.5 years. A peculiar myokymic movement of periorbital muscles was observed in 20 patients (34.5%). While dapsone monotherapy was continued in 55 patients, MDT (WHO-multibacillary regimen) was started in three patients. Vocational advice was given to 23 patients; and 35 (60.4%) patients were declared as "destitutes".

Role of bacterial flora in the pathogenesis & management of atopic dermatitis.

The carriage state of Staphylococcus aureus and its role in the pathogenesis and management of atopic dermatitis were evaluated in 50 patients, aged 3 months to 12 yr. An equal number of age and sex matched controls were also studied. The positivity of Staph.aureus in patients with atopic dermatitis was 50 per cent from eczematous skin, 34 per cent from anterior nares and 26 per cent from normal skin. In controls, the comparative figures were 14 per cent from anterior nares and 10 per cent from normal skin. After institution of oral erythromycin or cloxacillin therapy (according to sensitivity), the colony counts dropped to 18 per cent from eczematous skin, 14 per cent from anterior nares and 8 per cent from normal skin after one week and to zero after 3 wk. This was associated with significant clinical improvement. The results of this study suggest that Staph. aureus aggravates the eczematous process in patients with atopic dermatitis and antibiotics decrease the severity and are useful in long term prognosis of the disease.

Posterior mediastinal teratoma.

A patient with benign posterior mediastinal teratoma which is a rare site for teratomas is reported. Chest skiagram and CT of the thorax established the diagnosis. Complete removal of the mass was not possible on surgery as it was adherent to the pericardium and the esophagus. The patient remained asymptomatic one year after the surgery. There was no evidence of recurrence of the tumor.

Toxicity of dimethoate on urinary hydroxyproline in rats.

The effect of the administration of three different concentrations (2.25, 1.13 and 0.56 mg/100 g body weight) of dimethoate on the urinary excretion of total, non dialysable and free hydroxyproline were studied in female albino rats. Compared to controls, the urine contents were significantly lower in higher concentration (2.25 mg/100 g body weight) of dimethoate treated rats. The results clearly indicate that the urine contents were not much affected in lower concentration (0.56 mg/100 g body weight) of dimethoate treated rats compared to the other concentrations (1.13 and 0.56 mg/100 g body weight) of dimethoate treated rats.

Toxic effects of different concentrations of dimethoate on lysosomal enzymes of female albino rats.

The effect of three different concentrations of dimethoate on the activity of certain lysosomal enzymes, viz. beta-glucuronidase, beta-N-acetylglucosaminidase, cathepsin B and cathepsin D in serum, skin, liver, kidney and spleen and the stability of liver and kidney lysosomes was studied in female albino rats. The activity of beta-glucuronidase, beta-N-acetylglucosaminidase, cathepsin D was found to increase in serum and tissues in higher concentration (2.25 mg/100 g body weight) of dimethoate treated rats. A significant increase in the rate of release of beta-glucuronidase was found in the liver and kidney of higher concentration of dimethoate treated rats compared to controls. The results demonstrate that the activity of lysosomal enzymes increased in higher concentration of dimethoate treated rats than the lower concentration (0.56 mg/100 g body weight) of dimethoate treated rats.

Effects of dimethoate on collagen metabolism in rats.

The effects of three different doses of dimethoate on the collagen metabolism in the tissues of female albino rats were studied by measuring the specific and total activities of 3H-hydroxyproline in the dermal, gingival and uteral collagen fractions and in the urine. Compared to controls, the total activity of 3H-hydroxyproline in the soluble collagen and in the urine at 12 h after the administration of 3H-proline was significantly lower by 44.45 and 58.12 per cent in the higher dose (2.25 mg/100 g body weight) of dimethoate treated groups respectively. The urinary excretion of hydroxyproline and the total activity of urinary 3H-hydroxyproline measured after 28 days of injection of labelled proline were decreased by 45.56 and 32.68 per cent in higher doses of dimethoate treated animals respectively but the excretions of urinary 3H-hydroxyproline were decreased by 6.36 and 2.88 per cent in lower doses of dimethoate (0.56 mg/100 g body weight) treated animals. The results of the present investigation clearly indicate that the synthesis of collagen is decreased in the higher doses of dimethoate treated animals compared to lower doses of dimethoate treated animals. In addition, the rates of catabolism of both soluble and insoluble collagens were decreased in higher doses of dimethoate treated rats. In concludes that the lower doses of dimethoate (0.56 mg) treated rats were less affected than the higher doses of dimethoate (2.25 mg) treated rats.

Effect of a new herbo-mineral hypolipidemic agent on plasma lipoprotein pattern in rat atherosclerosis.

Hyperlipidemia was induced in rats by feeding an atherogenic diet for 5 months. The effect of administration of an indigenous hypolipidemic agent, Anna Kaara Raaja Sindhooram (AKRS) on the plasma lipoprotein profile was studied in the presence and absence of dietary lipid stimuli. Hyperlipidemia produced an enormous increase in the cholesterol and triglyceride contents of the low density (LDL) and very low density (VLDL) lipoprotein fractions and reduced the level of the putative non-atherogenic high density cholesterol (HDL-C). The agarose gel electrophoretic pattern showed a decrease in alpha-lipoproteins and an increase in beta-lipoproteins in the hyperlipidemic rats. AKRS treatment for 5 months altered the lipoprotein pattern favourably by raising HDL-C and lowering LDL-C in the treated rats.