Masood Anwar

Prenatal diagnosis of beta‐thalassaemia in Pakistan: experience in a Muslim country

A service for prenatal diagnosis of β‐thalassaemia was introduced in Pakistan in May 1994. Two renowned Islamic scholars, consulted before the service was introduced, ruled that a pregnancy can be terminated if the fetus is affected by a serious genetic disorder, and if termination is before 120 days (17 weeks) of gestation. During the first 3½ years of the service 300 couples requested the test. Almost all the couples had been informed by their treating doctors. Most diagnoses were made between 10 and 16 weeks of gestation, and only 15 (5%) were reached after the 16th week. DNA analysis was by the amplification refractory mutation system (ARMS). A multiplex ARMS was developed in which three primer combinations identified the mutations in 91.5% of the couples. In 13 couples (4.3%) linkage analysis was required for the fetal diagnosis. In 47/53 (88.7%) women carrying an affected fetus the pregnancy was terminated. In six cases it was declined principally on religious grounds. Postnatal confirmation of the prenatal diagnosis was possible in 117 unaffected children. One year after the start of the service, interviews with 141 couples with an affected child showed that 72% knew of the availability of prenatal diagnosis. Thirty‐two of the informed couples had had a pregnancy, but only 18 (56%) used prenatal diagnosis. The main reasons for non‐utilization of prenatal diagnosis were the cost of the test and fear of undergoing the test, though some gave no clear explanation. This study demonstrates that prenatal diagnosis is feasible and acceptable in a Muslim country such as Pakistan. Copyright

Disseminated intravascular coagulation in acute leukaemias at first diagnosis

Abstract: Haemorrhagic diathesis is the commonest cause of morbidity and mortality in acute leukaemias (AL). It is most commonly due to thrombocytopenia resulting from bone marrow failure. However, in a significant number of cases, disseminated intravascular coagulation (DIC) plays an important part. Previously it was thought that this mechanism was mainly confined to acute promyelocytic leukaemia (APL), but recently it has also been reported to occur in other subtypes of acute leukaemia. We report the results of a study carried out to find the incidence of DIC in various types of AL at the time of first diagnosis and in the absence of other recognisable causes. DIC was observed in 14(13.4%) cases out of 104 cases of AL studied. Nine out of 49(18.4%) cases of AML and 5 out of 55(9.1%) cases of acute lymphoblastic leukaemia (ALL) showed coagulation abnormalities consistent with DIC. Out of the 9 cases of AML showing DIC, 63 (66.67%) belonged to APL (FAB ME) subtype. Three (60%) out of 5 cases of ALL with DIC had T‐cell immunophenotype. The results indicate that DIC may also occur in types of AL other than APL, particularly in T‐ALL, and should be looked for.

Congenital afibrinogenemia: report of three cases

One female and two male infants, aged 2, 3 and 5 months, respectively, presented with uncontrolled bleeding from the umbilical stump and hematoma formation at intramuscular (vitamin K) injection sites. They were all products of firstcousin marriages and had been born at full term by normal, vaginal delivery. The number of siblings varied from one to three. There was no family history of bleeding tendency in any of the families. On examination, no abnormality was detected except for oozing from the umbilical stump and hematomas at injection sites. Blood counts and liver function tests were normal in all infants. However, prothrombin time (PT), partial thromboplastin time with kaolin (PTTK) and thrombin time (TT) were infinitely prolonged in all three patients but were normal in their parents. Fibrin degradation products were not detected in

MYELOFIBROSIS IN VISCERAL LEISHMANIASIS

94 A 6-year-old male child presented with a 4-month history of increasing pallor, intermittent fever and abdominal distension. On examination, the patient was found to be moderately emaciated and pale with a markedly protruding abdomen. He had a few small ecchymotic spots over arms and legs and was afebrile at the time of examination. Systemic examination revealed an enlarged liver ( 3 cm) and a n enlarged spleen ( 1 0 cm). Both were firm and non-tender. Peripheral blood counts are shown in Table I . The peripheral blood film showed microcytosis, hypochromia and a few fragmented red cells. A bone marrow aspiration attempt from the posterior iliac crest repeatedly ended in a dry tap. A trephine biopsy was then done from the same site. Impression smears were made and the marrow tissue was processed for paraffin sections by routine methods. Sections were stained with haematoxylin-eosin (H&E). Giemsa and silver impregnation methods. Biopsy sections revealed a hypercellular marrow with increased numbers of fibroblasts. Megakaryocytes and macrophages were also increased. Numerous oval structures with a nucleus and kinetoplast (LD bodies) were seen both intraand extracellularly in H&E and Giemsa stained sections

Malignant tumors of the minor salivary glands in northern Pakistan: a clinicopathological study

BACKGROUND Malignant tumors of the minor salivary glands comprise a small but significant proportion of oral cancers. We analyzed this group of tumors in our population. METHODS The records of all cases of malignant minor salivary gland tumors diagnosed at the Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan, during a period of 10 years (1994-2003) are described. The institute receives biopsy material from armed forces and public and private sector hospitals in northern Pakistan as well as referrals for second opinion. RESULTS A total of 21168 tumors were recorded at the AFIP Tumor Registry during the study period. These included 70 malignant minor salivary gland tumors. Twenty-three of these (32.8%) arose in the palate while the remaining tumors originated at other sites in the oral cavity. The commonest histological type was adenoid cystic carcinoma, constituting 30 cases (42.8%). The next most common type was mucoepidermoid carcinoma comprising 26 (37.1%) cases. The mean age of cases was 43.4 years and the male-to-female ratio was 1:1.4. There were 2 cases each of polymorphous low-grade adenocarcinoma and clear cell adenocarcinoma. The remaining cases included undifferentiated carcinomas, adenocarcinomas (not otherwise specified) and a few other rare tumors. CONCLUSION Adenoid cystic carcinoma was the commonest malignant neoplasm of the minor salivary glands followed by mucoepidermoid carcinoma. The palate was the commonest location of these tumors.

Prevalence of Prothrombin Gene Mutation (G-A 20210 A) in General Population: A Pilot Study

The objective of this study was to determine the prevalence of prothrombin gene mutation in a sample population from Pakistan. Two hundred apparently healthy unrelated adults (older than 18 years) were included in the study. The sample population comprised 100 Punjabis (male 50, female 50) and 100 Pathans (male 50, female 50). Patients with a history of previous thromboembolism were excluded from the study. Five milliliters (5 mL) of whole blood was drawn in an EDTA bottle. The DNA was extracted by the standard phenol-chloroform method. The DNA was amplified between exon number 14 and the 3’-untranslated region of the prothrombin gene by a polymerase chain reaction in a thermal cycler. Amplified products were digested overnight with HindIII at 37°C. The digested products were electrophoresed on 6% polyacrylamide gel. The fragments were visualized by silver nitrate staining. A heterozygous wild type and an uncut amplified product were included in the electrophoresis strip for quality control. The wild type of DNA ran as a 350-bp fragment and internal control was cut as 550- and 150-bp fragments. The abnormal prothrombin gene was cut into 350-, 322-, and 28-bp fragments. Only two cases of heterozygous prothrombin gene mutation G-A 20210A were found in the sample studied, giving an overall carrier rate of 01% (95% CI 0.4-2.4%) in the target population. Prothrombin gene mutation is present in our population but at a lower frequency than in the white population.

A review of β-glucans as a growth promoter and antibiotic alternative against enteric pathogens in poultry

The emergence of microbial challenges in commercial poultry farming causes significant economic losses. Vaccination is effective in preventing diseases of single aetiology while antibiotics have an advantage over vaccination in controlling diseases of multiple aetiologies. As the occurrence of antibiotic resistance is a serious problem, there is increased pressure on producers to reduce antibiotic use in poultry production. Therefore, it is essential to use alternative substances to cope with microbial challenges in commercial poultry farming. This review will focus on the role of β-glucans originating from yeast cell wall (YCW) as a growth promoter and antibiotic alternative. β-glucans have the ability to modulate the intestinal morphology by increasing the number of goblet cells, mucin expression and cells expressing secretory IgA (sIgA) with increased sIgA in the intestinal lumen and decreased bacterial translocation to different organs. β-glucans also increase the gene expression of tight junction (TJ) proteins which maintain the integrity of the intestinal wall in broiler chickens. However, further studies are required to optimise the dosage and source of β-glucans to determine effects on growth performance and mechanisms against enteric pathogens.

In-vitro and in-vivo anthelmintic potential of different medicinal plants against Ascaridia galli infection in poultry birds

Infectious diseases are major constraint that hinders the poultry industry. Among them parasitic diseases are very common and Ascaridia galli is one of the most common parasitic roundworms found in poultry. Haemorrhages, diarrhoea and listlessness are signs of infection. Parasitic infections such as A. galli are treated with chemical anthelmintics (piperazine, albendazole, levamisole, Ivermectin, benzimidazoles and fenbendazole). These synthetic chemicals can promote resistance, so there is need for alternative ways to treat the disease. Medicinal plants have the potential to combat such parasitism and the development of anthelmintic resistance appears to be very slow against such treatment. This review covers the studies related to the screening of plant materials having in vitro and in vivo anthelmintic activities against A. galli throughout the world. Medicinal plants showing in vitro anthelmintic activity include Anacardium occidentale, Allium sativum, Tribulus terrestris, Bassia latifolia, Piper betle, Morinda citrifolia L.I, Cassia occidentalis L. and Aloe secundiflora while in vivo studies include the use of Psorelia corylifolia, Piper betle, Pilostigma thonningi, Caesalpinia crista, Ocimum gratissimum and Anacardium occidentale. In conclusion, medicinal plants appear to have good anthelmintic activities in poultry and may substitute conventionally used synthetic drugs, and their use may moderate drug resistance in endemic pathogen populations and drug residues in poultry meat.

Antiviral and immune boosting activities of different medicinal plants against Newcastle disease virus in poultry

The poultry industry is affected by economically important problems such as Newcastle disease (ND). Newcastle disease virus (NDV) belongs to the Paramyxoviridae family and manifests as different strains; lentogenic, mesogenic and velogenic. ND affects the quality of eggs and impairs growth performance of birds. Various efforts have been made to control economic losses due to this disease, including using live and killed vaccines, which do not confer 100% immunity in all cases. Due to mutations within viral strains, NDV can become resistant and difficult to control, and there is a need to search for alternative measures. Medicinal plants are considered as a complementary means to control this virus, especially in developing countries, because they have been implicated in treatments for a variety of infectious and non-infectious diseases. Alkaloids, flavonoids, saponins and tannins found in plants have been regarded as novel antiviral agents. The following paper encompasses the studies related to plants having in vitro antiviral activity against ND such as Momordica balamina, Adansonia digitata, Artemisia annua, Azadirachta indica, Psidium guajava, Moringa oleifera and plants having good in vivo antiviral activity such as Aloe secundiflora, Cucumis metuliferus and Anthocleista nobilis as well. It discusses plants with the potential to improve the immunity of infected birds, such as Mangrove halophytes, Nigella sativa, Polysavone, Melissa officinalis, Momordica cochinchinensis, Echinacea purpurea, Withania somnifera and Aspargus Racemosus.