Mycobacterial autofluorescence in Papanicolaou-stained lymph node aspirates: a glimmer in the dark?

This study was undertaken to determine the value of incorporating fluorescence into cytopathological evaluation of lymph node fine-needle aspiration (FNA) specimens suspected of harboring mycobacterial species. The study population consisted of 1,044 HIV-positive and -negative patients referred for FNA to the cytopathology unit of a South African medical school located in a very high HIV prevalence region. Each aspirate was assessed on routine Papanicolaou-stained slides for morphologic characteristics of mycobacterial infection.

Genetic substructure in South African Bantu-speakers: evidence from autosomal DNA and Y-chromosome studies.

The extent of genetic differentiation between seven South African Bantu-speaking groups (Zulu, Xhosa, Tsonga/Shangaan, Southern Sotho, Pedi, Tswana, and Venda) was assessed from coancestry coefficients (F(ST)) estimated from autosomal serogenetic, DNA, and Y-chromosome DNA haplotypes. The overall F(ST) obtained from the autosomal data was 0.002, and that from the Y chromosome data was 0.

Streptococcus pneumoniae respiratory tract infections.

This review describes recent contributions to our understanding of pneumococcal pneumonia. Two genes have been described that encode enzymes involved with the biosynthesis of muropeptides. These enzymes may be novel antibiotic targets.

Hematological reference ranges in black very low birth weight infants.

This study compared hematological reference ranges in black very low birth weight infants to previously published values established predominantly on white subjects. Ninety-four healthy, black, premature babies with a birth weight of 800 to 1500 g at 2-7 days of age were enrolled as part of a study comparing blood transfusions and high- versus low-dose recombinant erythropoietin in anaemia of prematurity. Peripheral venous blood was collected for a full blood count and differential, fetal hemoglobin and erythropoietin levels.

Haemophilus influenzae type b conjugate vaccine diluted tenfold in diphtheria-tetanus-whole cell pertussis vaccine: a randomized trial.

Background: Despite their proven efficacy Haemophilus influenzae type b (Hib) conjugate vaccines are not given to most children in the developing world in the face of an estimated global Hib disease burden of nearly 2 million cases per annum. A major barrier to the introduction of the vaccine would be overcome by diluting the vaccine 10-fold in diphtheria-tetanus-whole cell pertussis (DTP). We report a randomized trial comparing the use of Hib conjugate vaccine diluted in a multidose vial of DTP with that of the full Hib dose.

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.

In southern Africa, brown oculocutaneous albinism (BOCA) is a distinct pigmentation phenotype. In at least two cases, it has occurred in the same families as tyrosinase-positive oculocutaneous albinism (OCA2), suggesting that it may be allelic, despite the fact that this phenotype was attributed to mutations in the TYRP1 gene in an American individual of mixed ancestry. Linkage analysis in five families mapped the BOCA locus to the same region as the OCA2 locus (maximum LOD 3.

The molecular basis of cystic fibrosis in South Africa.

The spectrum of CFTR mutations in three South African populations is presented. To date. a total of 192 white patients (384 chromosomes) with confirmed CF have been tested.

The E-cadherin-catenin complex in tumour metastasis: structure, function and regulation.

E-cadherin and the associated catenin complex have been recognised as performing a key role in cell adhesion. Loss of cell adhesion is seen as a key step in the cascade leading to tumour metastasis. The ability of both extra- and intracellular factors to regulate E-cadherin-mediated cell adhesion in physiological processes has provided insight into both the interactions of the E-cadherin-catenin complex, and possible mechanisms utilised by tumours in the process of metastasis.

Pemphigus vulgaris of the uterine cervix revisited: case report and review of the literature.

Pemphigus vulgaris is an autoimmune disease characterized by acantholytic blisters and erosions involving the oral mucosa, skin, and less frequently other mucosal surfaces. Although the cytology of scrapings from the cutaneous and oral lesions has been well-documented, there are relatively few reports in the literature of the cytologic appearance of pemphigus on cervicovaginal smears. This report documents a case of pemphigus involving the cervix, in which the diagnosis was not known at the time of the cervical smear and biopsy.

Auto-antibodies against oxidized LDL as a marker of coronary artery disease in patients with familial hypercholesterolaemia.

Auto-antibodies to oxidized low-density lipoprotein (ox-LDL) are thought to play a pivotal role in the pathogenesis of atherosclerosis. This study investigates the value of auto-antibodies to ox-LDL as a predictive marker of atherosclerosis in patients with both homozygous and heterozygous familial hypercholesterolaemia (FH), who are known to suffer from severe premature atherosclerosis. The influences of well-established risk factors for atherosclerosis such as age, LDL-cholesterol levels and smoking on the results were also determined.

Cell adhesion molecules - can they be used to predict coronary artery disease in patients with familial hypercholesterolaemia?

Adhesion of leukocytes to endothelial cells via cell adhesion molecules (CAMS) is thought to be pivotal in the initiation of atherosclerosis. As patients with familial hypercholesterolaemia (FH) are known to develop severe, premature coronary artery disease (CAD), we investigated the usefulness of soluble forms of CAMS namely vascular cellular adhesion molecule-1 (VCAM), intercellular cell adhesion molecule-1 (ICAM) and E-selectin as predictive markers of the presence and severity of atherosclerosis in this patient group. Twenty heterozygous FH patients without CAD; 24 heterozygous FH patients with CAD; 17 homozygous FH patients without documented CAD; nine homozygous FH patients with overt CAD; and 50 healthy controls were studied.

Unusual case of Acanthamoeba polyphaga and Pseudomonas aeruginosa keratitis in a contact lens wearer from Gauteng, South Africa.

Acanthamoeba species can cause a chronic, progressive ulcerative keratitis of the eye which is not responsive to the usual antimicrobial therapy and is frequently mistaken for stromal herpes keratitis. An unusual case of coinfection with Acanthamoeba polyphaga and Pseudomonas aeruginosa as causes of corneal keratitis in a contact lens wearer from Gauteng, South Africa, is reported. These two pathogens have previously been assumed to be selectively exclusive.

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

Oculocutaneous albinism (OCA) is an inherited disorder resulting in hypopigmentation of the skin, hair, and eyes. OCA type 2 (tyrosinase-positive) is the most common recessively inherited disorder among southern African Blacks. OCA2 is also seen in southern African Caucasoids, but is less frequent.

Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis.

We present a family in which the first affected child presented with a 'milder' form of the hydrolethalus syndrome and survived to seven months, and two subsequent pregnancies with typical features detected early by ultrasound evaluation. We propose that the 'milder' cases are indeed true cases of the hydrolethalus syndrome and that allelic variability may be responsible for these 'non-typically Finnish' findings. We also demonstrate that, especially in families where there has been a previously affected fetus, echographic diagnosis can be made in the first trimester, as early as the 11th week of gestation.

The cytomorphology of papillary serous carcinoma of the endometrium in cervical smears.

Background: An investigation into the determination of cytomorphologic criteria that may distinguish papillary serous carcinoma of the endometrium (PSC) from typical endometrioid carcinoma (TEC) in cervical smears was undertaken. Preoperative identification of this poor prognostic variant of endometrial carcinoma may influence the surgical management of these cases and the choice of adjuvant therapy.

Methods: The cervical smears of 12 cases of histologically confirmed PSC; 12 cases of TEC, including 2 villoglandular/papillary variants, and 6 cases of mixed PSC and papillary endometrioid carcinoma were reviewed.

Trends in the twinning rate in Johannesburg, South Africa, 1969-1989 and estimated twinning rates for 1990.

Birth statistics for the Johannesburg Metropolitan Region were collected for 757 151 confinements from 1969 to 1989 (467513 Black, 194375 White, 67250 Coloured and 28013 Indian confinements). From 1969 to 1978 data on the sexes of twins were also collected for 375 203 of the confinements (203 504 Black, 129 631 White, 28 253 Coloured and 13 815 Indian confinements). A twin confinement was defined as two deliveries during one confinement.

Rothia dentocariosa endocarditis and aortic root abscess.

We report a case of endocarditis and associated paravalvular abscess due to Rothia dentocariosa which did not respond to antibiotic therapy. Nine case reports describing endocarditis caused by this organism, formerly thought to be non-pathogenic, have been recorded in the literature. The isolates were extremely sensitive to penicillin, and eight patients responded to this agent which, in most cases, was used in combination with an aminoglycoside.

Huntington's disease confirmed by genetic testing in five African families.

Huntington's disease is an autosomal-dominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.

Xanthomatous leiomyosarcoma of the uterine cervix.

A 52-year-old woman underwent a hysterectomy for a large tumor of the uterine cervix that was shown to be a xanthomatous leiomyosarcoma (LMS) by histologic examination, the first example of this tumor in this site. Two previous similar tumors have been reported in the uterine corpus.

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers.

Keratolytic winter erythema (KWE), also known as "Oudtshoorn skin disease," or "erythrokeratolysis hiemalis," is an autosomal dominant skin disorder of unknown etiology characterized by a cyclical erythema, hyperkeratosis, and recurrent and intermittent peeling of the palms and soles, particularly during winter. Initially KWE was believed to be unique to South Africa, but recently a large pedigree of German origin has been identified. The disorder occurs with a prevalence of 1/7,000 in the South African Afrikaans-speaking Caucasoid population, and this high frequency has been attributed to founder effect.

In-vitro and in-vivo activity of trovafloxacin against Streptococcus pneumoniae.

Trovafloxacin had greater in-vitro activity than comparative fluoroquinolone agents against penicillin-sensitive pneumococci in studies from the USA, UK, Slovakia, Czech Republic, Sweden and South Africa. This activity was maintained against penicillin-resistant strains, with MIC90 values of < or = 0.25 mg/L observed for both groups.

Feasibility of prenatal diagnosis and carrier detection in South African haemophilia A patients.

The feasibility of DNA diagnosis for haemophilia A was tested in South African patients and families by screening for the common inversion mutation in the factor VIII gene and for the intragenic microsatellite markers in introns 13 and 22. The allele frequencies at the two microsatellite loci were significantly different, with informativity being higher in the Negroid (100%) than the Caucasoid group (67%). In severely affected haemophiliacs the inversion was found in 43% (6/14) of Negroids but in only 32% (13/41) of Caucasoids.

Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.

Oculocutaneous albinism (OCA2) is the most common autosomal recessive disorder in the South African Negroid population, occurring with a prevalence of 1/3900 individuals. The OCA2 locus, P, has been mapped to chromosome 15q11-q13 and a 2.7-kb interstitial deletion has been found to be the common mutation in Africa.

The origins of the Lemba "Black Jews" of southern Africa: evidence from p12F2 and other Y-chromosome markers.

The Lemba are a southern African Bantu-speaking population claiming Jewish ancestry. Allele frequencies at four different Y-specific polymorphic loci, as well as extended-haplotype frequencies that included data from several loci, were analyzed in an attempt to establish the genetic affinities and origins of the Lemba. The results suggest that > or = 50% of the Lemba Y chromosomes are Semitic in origin, approximately 40% are Negroid, and the ancestry of the remainder cannot be resolved.

Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis.

Cystic fibrosis (CF) is a common autosomal recessive disorder among people of European origin. With the localisation of the gene locus to chromosome 7q31 and the identification of closely linked polymorphic markers in 1985, it became possible to offer prenatal testing to couples at risk of having CF children, provided a live affected individual from that family was available for investigation. The CF gene, named CFTR, was cloned and sequenced in 1989 and the most common CF-causing mutation, delta F508, identified.