Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study.

BACKGROUND: We investigated the prevalence of Lynch syndrome as a hereditary cause of colon cancer in the young Jamaican colorectal cancer (CRC) population. METHODS: We identified patients aged 40 years or younger in whom primary CRC was diagnosed at the University Hospital of the West Indies from January 2004 to December 2008. We reviewed the medical records and hematoxylin and eosin (H&E)-stained histopathology slides. Tumour blocks were tested for microsatellite instability (MSI). Patients with MSI-high phenotype (MSI-H) tumours had genetic counselling, after which genomic DNA was extracted from peripheral blood to test for MLH1 and MSH2 germline mutations. Patients also had pedigree mapping. RESULTS: There were 25 patients with CRC aged 40 years or younger with no history of hereditary colon cancer syndrome. The patients' mean age was 33 (range 21-40) years. Histopathologic review confirmed CRC in all patients; 8 of 25 (32%) showed morphologic features suggestive of MSI. We detected MSI-H in 5 of 23 (22%) tumour blocks tested. Review with H&E staining correctly identified 80% of cases positive for MSI-H. The false-positive rate and positive predictive value on H&E review was 50%. The negative predictive value of histomorphologic H&E review was 94%. Three patients were available for and had mutational analysis of DNA mismatch repair genes; 2 were positive for mutations in keeping with Lynch syndrome and 1 had MLH1 alterations of uncertain significance. All 3 met the Amsterdam criteria for hereditary nonpolyposis CRC. CONCLUSION: Thirteen percent of the population had mutations in keeping with Lynch syndrome. This prevalence is similar to that reported for white populations.

Prevalence of gastrointestinal symptoms among ambulatory HIV patients and a control population.

BACKGROUND: The gastrointestinal tract is a common site of involvement in HIV-infected patients. Gastrointestinal symptoms are common in the general population and are associated with decreased quality of life. METHODS: Ambulatory consecutive HIV-infected patients and consecutive healthy blood donors seen in Jamaica were studied. A 19-item questionnaire of GI symptoms was administered. RESULTS: There were 196 respondents. Among 99 HIV patients, the mean number of symptoms was 2.9 and in 97 controls 3.3 (p=0.091). Dysphagia and odynophagia were present in 8.1% of HIV patients and 3.1% of the controls (p=0.129). Belching was present in 59.6% of HIV patients and in 96.8% of controls (p≤0.001). In the control group, 44.3% had heartburn compared to 29.3% of HIV patients. Within the preceding year, 26.3% of HIV participants and 12.4% of controls sought medical attention for their GI symptoms (p=0.001). GI symptomatology was directly related to immune status in the HIV group as patients with a CD4 count of less than 200 cells/µL reported up to 6 GI symptoms, those with CD4 of 201-350 cells/µL had 3 symptoms, and patients with CD4 greater than 351 cells/µL had 1 symptom. Pain on swallowing, and vomiting were significantly more common in patients with CD4 <350 cells/µL than in controls. CONCLUSIONS: GI symptoms were common in HIV patients and controls. In HIV patients symptoms were directly related to CD4 count. Pain on swallowing and vomiting were significantly more common in patients with CD4 <350 cells/µL than in controls.

Anticardiolipin, other antiphospholipid antibody tests and diagnosis of the antiphospholipid syndrome.

The frequent occurrence of false positive results in the anticardiolipin (aCL) enzyme linked immunosorbent assay (ELISA) hampers its application in identifying the antiphospholipid syndrome (APS), a condition characterized by a myriad of clinical presentations. This study highlights some of the pitfalls in the use of assays for antiphospholipid (aPL) antibody in clinical practice. The aCL ELISA, commercially prepared anti-beta2-gylcoprotein 1 (beta2-GP1) and antiphospholipid (APhL) assays were evaluated in the diagnosis of antiphospholipid syndrome (APS) in 94 pregnant women who had spontaneous abortion and a group of 177 healthy blood donors. Serological tests were used to rule out syphilis as the cause of false positive results in the aCL ELISA. The prevalences of positive aCL ELISA results (29/94, 31% v 26/177, 14%; p = 0.001) and aCL antibodies of the IgM isotype (19/94, 20% v 6/177, 3%; $p = 0.001$) were significantly higher in aborters compared to healthy subjects. The majority of the sera which were positive in the aCL ELISA were shown to be false positives as 93% (27/29) of aCL positive aborters and 67% (8/24) of aCL positive healthy subjects were negative in the anti-beta2-GP1 assay. Similarly, the sensitivity of the APhL ELISA was low and only 1% (1/94) of the sera of aborters and 6% (11/177) of healthy subjects were positive in this assay. The frequent occurrence of anticardiolipin antibodies of the authentic non-autoimmune variety and the low sensitivity of the other more specific aPL assays make the positive aCL ELISA difficult to interpret. We recommend that the diagnosis APS be made with strict adherence to the preliminary criteria for classification of APS.

Malignant lymphoma of gastric mucosa-associated lymphoid tissue in Jamaica

The recently appreciated concept of Mucosa-Associated Lymphoid Tissue (MALT) and the characteristics of the lymphomas arising therein are discussed with reference to the clinical, histological and immunohistochemical features of the first four cases of gastric MALT lymphomas diagnosed at the University Hospital of the West Indies. These tumours are low-grade B-cell lymphoas, which may undergo high-grade transformation. They are aetiologically associated with Helicobacter pylori (H pylori) infection in the stomach and may be cured in the early stages with antibiotics. Our cases were diagnosed from gastrectomy specimens removed for suspected carcinoma. All were high-grade, and associated with H pylori; 3 cases presented as advanced disease. Documentation of the features of these lymphomas will increase awareness and earlier recognition (AU)

Lupus anticoagulant in Jamaican Primiparae and the clinical significance in asymptomatic patients

Sera from one thousand pregnant primiparous women from the antenatal clinic of the University Hospital of the West Indies (UHWI) were screened for lupus anticoagulant. Twenty-three women (2.3 percent) were seropositive. A review was performed after delivery and eight hundred and sixty-eight (87 percent) of the case notes were found: 20/23 (87 percent) of those with positive tests and 848/977 (87 percent) of those with negative tests. The outcome variables examined were pre-eclampsia, postpartum haemorrhage, type of delivery, birth weight of the baby, foetal outcome, foetal distress, still birth, neonatal death, Apgar score at birth and need for admission to the special care nursery. No differences were found between the two groups for any of these variables (AU)

Zidovudine and interferon therapy for adult T-cell leukaemia/lymphoma: results of a preliminary study at UHWI-Mona

Seven patients with adult T-cell leukaemia/lymphoma(ATL) were treated with a combination of zidovudine (AZT) and interferon after failed chemotherapy. One patient showed a major response for nine months. The remainder showed progressive disease further complicated by drug toxicity. The poor responses could be explained by patient selection, since most patients had advanced disease refractory to chemotherapy. A larger more protracted study is required for further evaluation of this treatment option.

Zidovudine and interferon therapy for adult T-cell leukaemia/lymphoma: results of a preliminary study at UHWI-Mona

Seven patients with adult T-cell leukaemia/lymphoma(ATL) were treated with a combination of zidovudine (AZT) and interferon after failed chemotherapy. One patient showed a major response for nine months. The remainder showed progressive disease further complicated by drug toxicity. The poor responses could be explained by patient selection, since most patients had advanced disease refractory to chemotherapy. A larger more protracted study is required for further evaluation of this treatment option. (AU)

Induction of labour with intravaginal misoprostol versus dinoprostone in intrauterine death: a retrospective study

Between March 1992 and November 1994, 48 patients with intrauterine death had labour induced, 36 with the prostaglandin analogue misoprostol and 12 with the prostaglandin dinoprostone. Both were used as a single dose in 24 hours intravaginally. The patients were all of low parity and all but one were in the third trimester. Of those getting misoprostol, 92 percent, and of those getting dinoprostone, 67 percent, went into spontaneous labour. Eighty-one percent of those getting misoprostol and 67 percent of those getting dinoprostone delivered within 24 hours without the need for further prostaglandin or oxytocin, a difference that was not significant. No difference were found in other outcome variables such as diagnosis or induction to delivery time or need for ocytocin, between the two groups. Only one maternal medical complication occurred, chorioanmionitis in a patient who had misoprostol, and in whom labour was delayed 6 days.(AU)

Successful pregnancies in patients with the antiphospholipid syndrome treated with low-dose aspirin

Four patients with bad obstetrical and with positive lupus anticoagulant tests were treated with low-dose aspirin, prednisone or heparin. They had pre-term deliveries of live babies who all survived.

Successful pregnancies in patients with the antiphospholipid syndrome treated with low-dose aspirin

Four patients with bad obstetrical histories and with positive lupus anticoagulant tests were treated with low-dose aspirin, prednisone or heparin. They had pre-term deliveries of live babies who all survived (AU)

Factor VIII:C activity in cryoprecipitate prepared at the Blood Bank, University Hospital of the West Indies, Jamaica - abstract

Cryoprecipitate is the blood product rich in factor VIII: C activity used in the treatment of haemophhlia A. The University Hospital Blood Bank makes most of this product used in Jamaica. Commercially prepared factor VIII concentrates are expensive. We examined the effect of donor variables and techniques of preparation on the potency of cryoprecipitates in order to determine the most efficient production method. Factor VIII: C activity of cryoprecipitate was measured using the activated partial thromboplastin time with a normal plasma pool being used as reference plasma. Donor age and method of freezing the plasma had no effect on potency. Blood group B had a higher yield of factor VIII: C than groups A and O. Potency was decreased by prolonged storage of blood prior to processing (p = 0.015) but was increased by increasing volumes of cryprecipitate (p<0.01). The mean potency of the factor VIII: C was 184 i.u., surprisingly higher than the usually assumed 70 i.u. used for calculating the requirements of our haemophiliacs. We recommend that plasma from fresh tested blood, frozen in - 40§C be used for preparing cryoprecipitate and that a higher value than 70 i.u. of factor VIII: C be used for each bag of cryoprecipitate (AU)

Cerebral sinovenous thrombosis in a patient with paroxysmal nocturnal haemoglobinuria

Paroxysmal nocturnal haemoglobinuria may be complicated by life-threatening thrombosis. A patient who presented with the classical clinical picture of cerebral sinus thrombosis is described. Management of the condition is discussed. (AU)