Systemic pseudallescheriasis in a patient with acute myelocytic leukemia

Presented is a case of widely disseminated systemic pseudallescheriasis in a 41 year old male with acute myelocytic leukemia. The immediate cause of death appeared to be due to an extensive invasion of the lungs which showed massive intra-alveolar hemorrhages, congestion, mycotic thrombi, and multiple fungal lesions in all lobes. Pseudallescheria boydii was diagnosed histopathologically by virtue of its characteristic conidia present in miliary lesions throughout a wide range of host's tissues, including the brain and the thyroid. Three antemortem blood specimens cultured during the patient's final hospital stay were positive for the fungus. It was concluded the fungemia was responsible for the rapid and widespread dispersion of P. boydii in this debilitated patient who was granulocytopenic and immunosuppressed.     

Resistant Microascus cirrosus pneumonia can be treated with a combination of surgery, multiple anti-fungal agents and a growth factor

A 49-year old male with acute myelogenous leukemia relapsed eight years post allogeneic bone marrow transplantation. The patient received induction chemotherapy causing prolonged neutropenia. The patient developed pneumonia for which empirical antibacterial and antifungal therapy were started. The patient underwent a video-assisted thorocascopy with near complete resection of the lesion because of poor response to treatment. Microascus cirrosus was identified in the tissue. In vitro susceptibility test to different antifungal agents showed M. cirrosus was very resistant. The patient is undergoing second allogeneic transplant with improved pneumonia resulting from a combination of treatment for fungal infection, which included surgery, antifungal agents, and granulocyte-colony stimulating factor. The Microascus genus rarely causes invasive fungal infection in humans and can be very difficult to treat because of the resistance to available antifungal agents.     

A new<Emphasis Type="Italic"> DR7-DQ8</Emphasis> haplotype resulting from a recombination between the<Emphasis Type="Italic"> DQA1</Emphasis> and<Emphasis Type="Italic"> DQB1</Emphasis> loci in a leukemic patient of Caucasoid origin

Meiotic recombinations within the HLA-DR/DQ subregion are seldomly observed. However the high number of unusual DRB1-DQB1 allelic combinations underline the importance of crossover in shaping the class II haplotypic diversity. We present here the first report of a DQA1-DQB1 recombination event in a leukemic patient as detected by complete class II molecular typing of the family, including analysis of the DQCAR microsatellite. The recombination that occurred on the maternal chromosomes led to the unusual DR7-DQ8 haplotype characterized by the DRB1*0701-DRB4*01030102N-DQA1*0201-DQB1*0302 alleles. Because the patient had no HLA-identical sibling donor, a search for an unrelated hematopoietic stem cell donor was initiated. Out of three potential donors, only one HLA-A/-B/-C/DRB1-compatible but DQB1-mismatched donor could be identified.     

Pathogenicity of Sporotrichum pruinosum and Cladosporium oxysporum,isolated from the bronchial secretions of a patient,for laboratory mice

In this study we have demonstrated the occurrence of Sporotrichum pruinosum and Cladosporium oxysporum in the bronchial secretions of a patient with a presumptive diagnosis of tuberculosis. This observation coupled with the ability of both fungi to cause infection and elicit tissue responses in experimentally infected mice supported a probable etiologic relationship with the patient which could not be confirmed in the absence of histologic evidence. In vitro some antimycotics were tested against S. pruinosum and C. oxysporum by the agar dilution method. Oxiconazole with a minimum inhibitory concentration of 0.1 g/ml^–1 after 72 h and amorolfine at a concentration of 0.001 g/ml^–1 after 72 h were the most active ones against S. pruinosum and C. oxysporum respectively. It is suggested that the isolation of S. pruinosum and C. oxysporum from patients with bronchopulmonary disorders should be viewed with caution. Clinical and laboratory evaluation of such patients should be done critically before arriving at a firm diagnosis.     

First reportedNocardia otitidiscaviarum infection in an AIDS patient in Italy

Nocardiosis is a well-described infection in immunocompromised patients, and has been rarely documented in patients with AIDS.Nocardia asteroides is the most frequently isolated etiologic agent. Rare cases are due toN. brasiliensis andN. otitidiscaviarum. This work describes the first case of nocardiosis in Italy caused byN. otitidiscaviarum in an AIDS patient. A 31 year-old intravenous drug abuser with a diagnosis of full-blown AIDS, presented with high fever and lymphadenitis with a fistula draining copious purulent discharge. Broad-spectrum antibiotic therapy was initiated, but the patient did not show any improvement. Direct examination of the pus revealed numerous gram positive rods. When culturedN. otitidiscavarium was isolated and identified by morphological and biochemical tests.     

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

OPA1 is highly expressed in retina and optic nerve. OPA1 mutations were first identified in patients with non-syndromic autosomal dominant optic atrophy. Recently, OPA1 mutations were detected in a multisystemic disorder which has optic atrophy as the core clinical feature and multiple mitochondrial DNA (mtDNA) deletions in muscle. We report a patient with a multisystemic disorder and multiple muscle mtDNA deletions, carrying an in-frame deletion in OPA1 in the absence of optic atrophy. This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy.     

Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut ⁰ MMA, with a mutation in the MUT gene encoding the l-methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing the deoxyadenosylcobalamin cofactor of MCM. The mut ⁰ patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene.     

First case of Microsporum ferrugineum from Tunisia

This is the first case of Microsporum ferrugineum isolated from a Tunisian patient. A 60-year-old man was admitted for tinea sycosis associated with circinate herpes of the hand. Examination disclosed diffuse erythematic and perifollicular papules and pustules in the beard area. Typical ringworm vesiculo-pustular lesions involved skin of the hand. Isolates were identified as Microsporum sp on the basis of macroscopic and microscopic colony characteristics. The diagnosis of M. ferrugineum was confirmed by PCR sequencing of Chitin Synthase1 gene. The patient was treated successfully with Griseofulvin, which was administered for 4 weeks.     

Subungual myiasis in a woman with psychiatric disturbance

Myiasis is caused by the invasion of tissues or organs of men and animals by dipterous larvae. The disease is infrequent in Turkey. A case of a 65-year-old woman having been initially diagnosed with chronic psychosis, and found to have a left big toe nail invaded by the larvae of Calliphora spp., is presented. A total of 17 maggots were removed from the left big toe of the patient, which were then determined as Calliphora spp. The patient has undergone surgical withdrawal of both nails of her big toes, followed by the administration of oral prophylactic antimicrobial treatment.This is the second recorded case of subungual myiasis by Calliphora spp. in Turkey. Myiasis should be considered in patients with lower personal hygiene, especially with chronic psychiatric disturbances.     

Disseminated cutaneous and vascular invasion byFusarium moniliforme in a fatal case of acute lymphocytic leukemia

A 35 year old female patient with acute lymphocytic leukemia developed fusariosis in which dissemination appeared to be limited to cutaneous and vascular invasion. The first evidence of fungemia occurred nearly seven months after initial hospitalization. The fungus was identified asFusarium sp. and was considered a contaminant. Two weeks later blood cultures were again positive forFusarium sp. and the patient was placed on amphotericin B and 5-fluorocytosine therapy. The following day developing lesions were noted on her forearms and face; lesions ultimately spread to her trunk, abdomen, and lower extremities. Skin lesion biopsy sections revealed abundant septate and branching hyphae throughout the dermis and within capillaries. Twenty-six days after the initial isolation the patient died. Post-mortem blood cultures gave rise to the same fungus, which was identified asFusarium monoliforme. Postmortem cultures and stains of spleen, liver, lung, and brain specimens were all negative for fungi. The primary source and portal of entry of the organism remained undetermined.     

Pulmonary aspergillosis due toAspergillus terreus combined with staphylococcal pneumonia and hepatic candidiasis

A female patient with systemic lupus erythematosus (SLE) developed pulmonary aspergillosis with staphylococcal pneumonia and hepatic candidiasis.Aspergillus terreus, which is a rare causative organism of pulmonary aspergilosis, was identified from a pulmonary lesion by culture. The aleurioconidium production, a characeristic of the genusAspergillus sect.terrei, was demonstrated on short and irregular hyphal features in tissue sections. This report is the first of a combined case of pulmonary aspergillosis due toA. terreus with infections caused by other microorganisms.     

Case of Clostridium perfringens bacteremia after routine colonoscopy and polypectomy

Bacteremia is an uncommon complication after polypectomy and colonoscopy. We report one of the first cases of Clostridium perfringens bacteremia after polypectomy. Our patient was a four years old boy with congenital polyposis, who underwent colonoscopy and polypectomy without complication. Approximately 12 h later he developed a fever and tachycardia with no other clinical symptoms. His blood cultures grew out penicillin susceptible C. perfringens and Enterococcus faecalis. He responded to antibiotic therapy and remained clinically asymptomatic for the duration of his course. There are a few reports of bacteremia after routine polypectomy, but no reported cases of C. perfringens bacteremia in the pediatric population. Clostridial sp. bacteremia can be fatal with devastating consequences if appropriate antibiotics and/or surgical debridement are delayed. Polymicrobial infection, as illustrated in our patient, is also common and can be a poor prognostic risk factor. Therefore, for patients with a history of polypectomy and new onset fever, anaerobic infections should be considered and empiric antibiotic therapy should include coverage for these organisms.     

Pseudomicrodochium fusarioides sp. nov., isolated from human bronchial fluid

A fungus from bronchial lavage fluid from a patient with pulmonary infiltration was isolated in pure culture and identified as a species of Pseudomicrodochium. It is compared and contrasted with other species of the genus, in particular P. suttonii, and formally described as P. fusarioides.     

A cDNA clone encoding an IgE-binding protein from Brassica anther has significant sequence similarity to Ca2+-binding proteins

Thirteen cDNA clones encoding IgE-binding proteins were isolated from expression libraries of anthers of Brassica rapa L. and B. napus L. using serum IgE from a patient who was specifically allergic to Brassica pollen. These clones were divided into two groups, I and II, based on the sequence similarity. All the group I cDNAs predicted the same protein of 79 amino acids, while the group II predicted a protein of 83 amino acids with microheterogeneity. Both of the deduced amino acid sequences contained two regions with sequence similarity to Ca²⁺-binding sites of Ca²⁺-binding proteins such as calmodulin. However flanking sequences were distinct from that of calmodulin or other Ca²⁺-binding proteins. RNA-gel blot analysis showed the genes of group I and II were preferentially expressed in anthers at the later developmental stage and in mature pollen. The recombinant proteins produced in Escherichia coli was recognized in immunoblot analysis by the IgE of a Brassica pollen allergic patient, but not by the IgE of a non-allergic patient. The cDNA clones reported here, therefore, represent pollen allergens of Brassica species.     

Repeated isolation of Cryptococcus laurentii from the oropharynx of an immunocompromized patient

Cryptococcus laurentii is one of the non-neoformans cryptococci that have rarely been isolated from humans. We report a case of repeated colonization of the oropharynx by Cr. laurentii in a patient with erythroleukaemia. The isolate was identified by phenotypic and genotypic tests and showed resistance to fluconazole. This revised version was published online in June 2006 with corrections to the Cover Date.     

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

We used multiplex PCR followed by sequencing to screen for mutations in the 14 exons of theRPE65 gene in early-hildhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber’s congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT → AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT → AAG) also in exon 9 of an LCA patient. We also identified a polymorphism in exon 10 (GAG → GAA) in an arRP as well as an LCA patient. Mutation screening would be greatly facilitated by multiplex PCR which could cut down costs, labour and time involved. The nucleotide changes observed in this study could bede novo. Though a larger study has been undertaken, from the preliminary results it appears that in India theRPE65 gene seems to be less involved in causation of LCA.     

Molecular-genetic analysis of two cases with retinoblastoma: Benefits for disease management

Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral retinoblastoma, underwent complete ophthalmic examination, cytogenetic study, retinoblastoma gene (RB1) mutational analysis andRB1 promoter region methylation screening. In the bilateral retinoblastoma patient deletion of chromosome region 13q14 in peripheral blood lymphocytes and a hemizygous novel 8-bp deletion in exon 4 ofRB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 ofRB1.     

Recurrent abscesses due to Finegoldia magna, Dermabacter hominis and Staphylococcus aureus in an immunocompetent patient

A case of recurrent abscesses in an immunocompetent patient is reported, involving the opportunistic human pathogen Dermabacter hominis, the virulent anaerobic pathogen Finegoldia magna and Staphylococcus aureus.     

Subcutaneous Pseudallescheriasis in a renal transplant recipient

This paper reports a case of a single subcutaneous nodule caused byPseudallescheria boydii in a renal transplant recipient, possibly of nontraumatic origin. The patient was treated surgically and with itraconazole.     

Treatment of deep mycoses with itraconazole

Four patients with deep mycoses were treated with itraconazole. Two patients had chromoblastomycosis, one patient each had aspergillosis and Rhinofacial zygomycosis. These patients were either resistant to or showed poor response to Amphotericin B and/or ketoconazole. After the initial clinical and mycological evaluation, itraconazole was given in a daily dose of 200 mg orally. All patients responded to the drug very well. No adverse effects attributable to itraconazole were detected.