Potential determinant factors of sexual identity in ambiguous genitalia

This is a review of literature scanning the potential factors which may affect Sexual Identity (S.I.) and Gender Identity (G.I.) in patients with ambiguous genitalia. Definitions of these concepts are outlined. Genetic, gonadal, hormonal, social and cultural pressures are reviewed as well as lessons to learn from clinical experiences and outcomes. Current criteriae used to assign gender in a child with ambiguous genitalia are discussed including medical and surgical criteriae as well as cultural disruptors. At the dawn of the third millennium, it is remarkable how little we know about the establishment of our individual and social identities.     

Rituximab in patients with mucosal-associated lymphoid tissue-type lymphoma of the ocular adnexa

Eight patients with ocular adnexal mucosal-associated lymphpid tissue (MALT) lymphoma were treated with rituximab, at diagnosis (n=5) or relapse (n=3). All untreated patients achieved lymphoma regression, while relapsing patients had no benefit. Four responding patients experienced early relapse. The median time to progression was 5 months. The efficacy of rituximab in ocular adnexal lymphoma is lower than that reported for gastric MALT lymphomas.     

e6a2 BCR/ABL1 fusion with cryptic der(9)t(9;22) deletions in a patient with chronic myeloid leukemia

This is the first report of e6a2 and e1a2 BCR/ABL1 positive chronic myeloid leukemia (CML) with cryptic deletions of the 5'ABL1 and 3'BCR in separate clones which differ in genomic regions of the deleted der(9). Both deletions were detected throughout monitoring. Imatinib mesylate stabilized this CML with rare genetic aberrations for a relatively long time.     

Subclinical hypothyroidism in a patient affected by advanced AIDS and visceral leishmaniasis

Hypothyroidism has been shown to occur in HIV disease. Thyroid function of patients affected by AIDS and leishmaniasis is unknown. Here we report the case of an AIDS advanced patient developing hypothyroidism during leishmaniasis. The thyroid disorder might have been caused by infiltration of the gland by Leishmania. An additive impact of HIV in thyroid function impairment is suggested.     

Analysis of the env V3 sequences obtained from patients with HIV type 1 infection treated with the immune modulant agent tucaresol

Tucaresol, a Schiff base-forming compound that is shown to enhance cytotoxic T cell responses and the production of type 1 cytokines, represents a potentially useful adjuvant factor for treating HIV-1 infection. We studied the effect of tucaresol on V3 sequences within the HIV-1 env region derived from patients with different virologic and immunologic features who were enrolled in a phase I/II randomized clinical trial. The sequence analysis of the env V3 region of the viruses at baseline has confirmed a genotypic pattern similar to a macrophagotropic virus model; we analyzed the follow-up sequences at week 16 of the protocol and did not observe any difference in the tropism determinants within the third variable fragment of the env region. The administration of tucaresol did not accelerate env V3 evolution thus preventing modifications of HIV-1 tropism over time.     

Immunological patterns identifying disease course and evolution in multiple sclerosis patients

Reliable, and easy to measure, immunological markers able to denote disease characteristics in multiple sclerosis (MS) patients are still lacking. We applied a multivariate statistical analysis on results obtained by measuring-by real-time RT-PCR-mRNA levels of 25 immunological relevant molecules in PBMCs from 198 MS patients. The combined measurement of mRNA levels of IL-1beta, TNF-alpha, TGF-beta, CCL20 and CCR3 was able to distinguish MS patients from healthy individuals. CXCR5, CCL5, and CCR3 combined mRNA levels identify primary progressive MS patients while TNF-alpha, IL-10, CXCL10 and CCR3 differentiate relapsing MS patients. Our results indicate that multi-parametric analysis of mRNA levels of immunological relevant molecules in PBMCs may represent a successful strategy for the identification of putative peripheral markers of disease state and disease activity in MS patients.     

Programmed cell death of myelin basic protein-specific T lymphocytes is reduced in patients with acute multiple sclerosis

We investigated the apoptosis of myelin basic protein (MBP)-specific T lymphocytes in multiple sclerosis (MS) patients with acute (AMS) or stable (SMS) MS by evaluating the expression of apoptosis markers on peripheral cells. Cells of healthy controls (HC) were evaluated as well. Results showed that mitogen-stimulated apoptosis was comparable among patients and controls, whereas MBP-stimulated CD4+ and CD8+ 7-AAD+ and 7-AAD+ Fas+ cell (apoptotic cells) were significantly reduced in AMS patients. A reduction of the apoptotic rate of myelin-specific CD4+ and CD8+ T lymphocytes could be involved in the immune-mediated destruction of the myelin sheath seen in AMS patients.     

Henri Ey's neojacksonism and the psychopathology of disintegrated mind

The French psychiatrist Henri Ey developed his organo-dynamic theory of the mind function and consciousness 50 years ago incorporating Hughling Jackson's thinking, along with psychiatric and philosophical theorizations by Janet and Bergson. This model has not received the attention it deserved, but recent advances in neuroscience rekindled interest for Ey's theory. By overcoming the Cartesian mind-body dualism and treating the mind-body unit as an inseparable whole, this model opens the way for the integrated treatment of mental disorders. Ey's conceptualization of consciousness as being simultaneously both synchronous and diachronic anticipates current theories of consciousness (Damasio, Edelman, Mesulam).     

Patterns of clinical use of antipsychotics in hospitalized psychiatric patients

The ways of using antipsychotic drugs have greatly changed over the last 10 years. The aim of this study was to evaluate such changes in psychiatric patients admitted to the Psychiatric Department of Milan's Ospedale Maggiore in 1989 (n=350), 1999 (n=718) and 2002 (n=628). The medical records of the hospitalized patients were evaluated by analyzing the anamnestic and clinical data with particular reference to age, gender, diagnosis and medication use. In 2002, atypical antipsychotics were more frequently prescribed as monotherapy upon discharge than typical antipsychotics (32.64% vs. 30.10%). Combinations of two or more antipsychotic drugs were prescribed upon discharge for 20.63% of the patients in 1989, 31.24% in 1999 and 23.09% in 2002. The combinations of one typical and one atypical drug increased from 4.04% in 1999 to 13.06% in 2002. The mean (+/-S.D.) daily antipsychotic drug dose (expressed in chlorpromazine equivalents) was significantly higher in 2002 than in 1999 and 1989. The results of this study confirm the trend to use combinations of one typical and one atypical antipsychotic, and higher doses.     

Deep brain stimulation to relieve drug-resistant SUNCT

The rare primary headache short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is characterized by 3 to 200 attacks per day of severe unilateral orbital pain. Functional magnetic resonance imaging shows increased blood flow in the ipsilateral posterior inferior hypothalamus during attacks, indicating activation. We report the first patient with SUNCT in whom severe intractable pain (70 per day) was well controlled by electrode implant to and continuous stimulation of the posterior inferior hypothalamus. Ann Neurol 2005;57:925-927.