Invasive trichosporonosis in an AIDS patient: case report and review of the literature.

Invasive Trichosporon infection is a rare, life-threatening infection in immunocompromised patients. It has been reported as an emerging opportunistic infection in those with acquired immune deficiency syndrome (AIDS). Only 12 cases of invasive trichosporonosis in patients with HIV have been documented, none in Southeast Asia. We report a case of fatal, disseminated trichosporonosis in a Filipino AIDS patient with severe cutaneous and pulmonary involvement. Invasive trichosporonosis should be considered in HIV-positive patients with disseminated fungal infection since this may be refractory to conventional antifungal treatment.

Clinical profile of patients diagnosed with leptospirosis after a typhoon: a multicenter study.

This study described the clinical features and complications of leptospirosis among patients seen at nine tertiary hospitals from September 28 to November 30, 2009 after a heavy rainfall typhoon. The clinical findings of the confirmed cases were compared with the previous clinical studies on seasonal leptospirosis in the Philippines. Risk factors for complicated disease were also identified. Confirmed cases were based on any of the following: positive leptospiral cultures of blood or urine, single high leptospira microscopic agglutination test (MAT) titer of 1:1,600, a fourfold rise in MAT, and/or seroconversion. Of 670 patients with possible leptospirosis, 591 were probable by the WHO criteria, 259 (44%) were confirmed. Diagnosis was confirmed by MAT 176 (68%), by culture 57 (22%), and by MAT and culture 26 (10%). The mean age of the confirmed cases was 38.9 years (SD 14.3). The majority were males (82%) and had a history of wading in floodwaters (98%). The majority of the patients presented with nonspecific signs, with fever as the most common (98.5%). Other findings were myalgia (78.1%), malaise (74.9%), conjunctival suffusion (59.3%), oliguria (56.6%), diarrhea (39%), and jaundice (38%). Most of the patients presented with a moderate-to-severe form of leptospirosis (83%). Complications identified were renal failure (82%), pulmonary hemorrhage (8%), meningitis (5%), and myocarditis (4%). Mortality rate was 5%, mostly due to pulmonary hemorrhage. This study emphasizes the importance of public awareness and high index of suspicion among clinicians of leptospirosis during the monsoon months when flooding is common. Early recognition and detection of the disease should decrease morbidity and mortality.

[Prognostic value of psychotropic drugs for the risk of accidental falls]. / Valore prognostico dei farmaci psicotropi nel rischio caduta.

Falls in the elderly are common and often serious. Older adults often take numerous medications for multiple chronic conditions, so they have an increased risk for drugs that potentially cause falls. We studied the association between psychotropic drugs and falls in residential care people in order to identify medications that may increase the falls risk. A prospective case control study was performed in the nursing home of Local Health Care. We assessed the incidence of patient falls during admission in nursing home in 2007 and 2008. We compared psychotropic medications (antipsychotic drugs N05B, anxiolytics N05B, antidepressants NO6A, anticholinesterases NO6D) taken by all patients who fell (140 cases) with those taken by patients who did not fall (140 controls), paired with an allocation ratio of 1:1 for the same age (quinquennial classes), sex, time of admission to nursing home. The probability of falls increased when the patients used antipsychotic drugs (OR 1.91; 95% CI 0.47, 0.19; p = 0.0114) and when the number of psychotropic drugs is equal to or greater than 2 the risk of falling increases more. (OR 2.3; 95% CI 0.56, 0.18;p = 0.0036). This work reinforces the importance of routine medication reviews, especially in elderly exposed to psychotropic polypharmacy regimens that include antipsychotic drugs.

Hyperplastic polyp of the stomach simulating hypertrophic pyloric stenosis.

We describe a rare case of hyperplastic polyp of the stomach having its clinical origin in the neonatal period and initially stimulating hypertrophic stenosis of the pylorus. After this neoformation, which almost completely obstructed the pylorus, was endoscopically removed, vomiting ceased and a rapid weight gain was observed. It is known that tumors are a rare cause of gastric outlet obstruction if compared with hypertrophic stenosis of the pylorus. However, our experience suggests that in the case of atypical symptoms, the investigations should be extended, especially to endoscopic examination of the upper digestive tract.

Molecular analysis of beta zero-thalassemia intermedia in Sardinia.

In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the beta-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position -158 5' to the G gamma globin gene implicated in high gamma chain production and thus the mild phenotype. In patients' homozygotes for codon 39 nonsense mutation, those with thalassemia intermedia more frequently had the two-gene deletion form of alpha-thalassemia, or functional loss of the alpha 2 gene as compared with those with thalassemia major. In a few siblings with thalassemia major and intermedia, the thalassemia intermedia syndrome correlated with the presence of the -alpha/-alpha genotype. No cause for the mild phenotype was detected in the majority of patients who had not inherited either haplotype IX or alpha-thalassemia.

Genetic control of the proportion of gamma chains of human fetal haemoglobin.

The relative proportions of gamma chains of human fetal haemoglobin G gamma, A gamma 75 Ileu (A gamma I) and A gamma 75 Thr (A gamma T) were investigated in homogeneous populations of patients in Algeria exhibiting sickle cell disease and in patients in Algeria and Sardinia with beta-thalassaemia. The restriction site haplotypes within the beta gene cluster were known. The results suggest a tight genetic regulation of the G gamma/A gamma + G gamma ratio (G gamma ratio) which is associated with the G gamma Hind III site of polymorphism (p less than 0.0001). From the present results and those in the literature the high G gamma ratio is associated with the presence of 3 polymorphic restriction sites: Xmn1 5' to the G gamma gene, Hind III in the G gamma IVS II and Hinc II in the psi beta gene. Familial studies showed that the expression of the A gamma alleles is genetically determined. The wide variation of the A gamma T/A gamma T + A gamma I ratio (A gamma ratio) between families is most probably related to the various haplotypes bearing the A gamma I alleles.