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Biomedical subjects

C Carrera

Publications and source records attributed to C Carrera.

At least 19 recordsLinked to original sources
PubMed2006

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.

Acute intermittent porphyria (AIP) is a metabolic disease with a variable prevalence among different countries. In some areas of southern Europe it remains to be fully evaluated. We undertook a genetic and biochemical study of 16 unrelated Spanish AIP patients and relatives. The genetic analyses showed they harboured the following mutations in the porphobilinogen deaminase gene: R173W, G111R, L278P, L238P, R116W, R26C, 340insT, 730delCT, 691del30bp, and IVS14+1g>a. The mutation R173W was found in 6 patients (37.5%), including the only patients of our series with >3 recurrent porphyria attacks. While in clinical remission, all AIP patients exhibited sustained increased excretion of porphyrins and precursors. PBG excretion showed a high between-subject variation and was not related to erythrocyte PBG deaminase activity. The study of family members allowed the identification of 22 asymptomatic AIP carriers. These included 8 persons harbouring the R173W mutation belonging to four different families. Six of these latent AIP subjects showed increased PBG elimination, and in two the urinary levels were >10-fold the normal limit. These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients.

Adolescent↗
PubMed2005

Cutaneous larva migrans with folliculitis: a new clinical presentation of this infestation.

Two patients (a 35-year-old woman and a 33-year-old man, just returned from trips to Jamaica and Barbados, respectively) presented with cutaneous larva migrans with folliculitis, a rare and atypical clinical presentation of this infestation. Histopathological examination revealed a follicular and perifollicular infiltrate prevalently consisting of lymphocytes and neutrophils, with numerous eosinophils. Both patients were successfully treated with oral albendazole.

Adult↗
PubMed2004

[Bronchiolitis obliterans associated with paraneoplastic pemphigus: a paraneoplastic autoimmune multiorgan syndrome].

INTRODUCTION: Paraneoplastic pemphigus is a mucocutaneous disease characterized by well defined clinical and immunopathological features associated with neoplasia. Recent evidence of bronchial epithelium involvement has led to the suggestion that this process is a paraneoplastic autoimmune multiorgan syndrome. CLINICAL OBSERVATION: We report the case of a patient with lichenoid eruptions on the skin and mucous membranes who later developed progressive dyspnea. With a suspected diagnosis of paraneoplastic autoimmune multiorgan syndrome, the following diagnostic tests were performed: histology and immunofluorescence of the skin, oral mucosa, and bronchial epithelium; indirect immunofluorescence of serum; pulmonary function tests; and evaluation for an occult neoplasm. Findings of pathology and immunofluorescence confirmed the suspected diagnosis. The computed thoracoabdominal tomography revealed signs of bronchiolitis and the presence of a retroperitoneal tumor. CONCLUSIONS: Awareness of the mucocutaneous manifestations of paraneoplastic autoimmune multiorgan syndrome, and confirmation of this diagnosis by simple laboratory techniques can facilitate the early detection of occult neoplasia and forestall respiratory involvement.

Autoimmune Diseases↗
PubMed2004

Thalidomide treatment for hypertrophic cutaneous lupus erythematosus.

INTRODUCTION: In recent years numerous reports have been published regarding satisfactory thalidomide therapy for refractory chronic cutaneous lesions of lupus erythematosus (CCLE); to date, in the literature, there is just one report describing two patients affected by hyperkeratotic CCLE successfully treated with thalidomide. METHODS: Six patients affected by a hypertrophic/verrucous variant of CCLE were treated with thalidomide during the period October 1999 to December 2002 and their medical records were retrospectively reviewed. The initial dose of thalidomide was 100 mg/die by mouth for all the cases, while the duration of therapy was variable among the patients. RESULTS: All six patients responded to treatment: two had partial resolution of the lesions and four achieved almost complete clearing of cutaneous disease. Response to treatment was seen in the first month of therapy in all the patients. Follow-up nerve conduction studies were negative but a patient had to discontinue the drug because of neurological problems. DISCUSSION/CONCLUSION: Our case series confirms the efficacy of a 'low-dose' thalidomide regimen in verrucous/hyperkeratotic CCLE, which is normally unresponsive to conventional treatment; in this setting, thalidomide should be kept in mind as an extremely valid therapeutic option despite the lack of prospective, randomized, double-blind, placebo-controlled studies.

Female↗
PubMed2002

Structural and topographical characteristics of dipalmitoyl phosphatidic acid in Langmuir monolayers.

Dipalmitoyl phosphatidic acid (DPPA) monolayers at the air-water interface were studied from surface pressure (Pi)-area (A) isotherms and at the microscopic level with Brewster angle microscopy (BAM) under different conditions of temperature, pH, and ionic strength. BAM images were recorded simultaneously with Pi-A isotherms during the monolayer compression-expansion cycles. DPPA monolayers show a structural polymorphism from the liquid-expanded (LE)-liquid-condensed (LC) transition region at lower surface pressures toward liquid-condensed and solid (S) structures at higher surface pressures. An increase in temperature, pH, or ionic strength provokes an expansion in the monolayer structure. The results obtained from the Pi-A measurements are confirmed by the monolayer topography and relative reflectivity. The measurements of relative reflectivity upon monolayer compression showed an increase in relative monolayer thickness of 1.25 and 3.3 times throughout the full monolayer compression from the liquid-expanded to the liquid-condensed and solid states, respectively.

Osmolar Concentration↗
PubMed2001

[Qualitative approach to the attitudes and expectations of doctors during the process of computerising primary care].

OBJECTIVE: To find the attitudes and expectations of doctors during the process of computerising primary care (PC). DESIGN: Qualitative investigation through discussion groups. PARTICIPANTS: Thirty-one doctors from the two PC regions of Gipuzkoa. METHOD: Intentional stratified sampling by regions and by experience in using a computer in the consulting-room. Five discussion groups with recording and transcription of the contents with prior authorisation and guarantee of confidentiality. Qualitative analysis of the notes and transcriptions with the help of computer back-up. Validation through sending of results to participants and discussion between the authors. RESULTS: Introducing computers into PC consulting-rooms had repercussions both on the ordering and contents of the information recorded. The effort < > was not accompanied by subsequent evaluation. Notable deficiencies in management of the computerising process were perceived. Computer use created additional symbolic effects for both patients and doctors. CONCLUSIONS: Computerising PC is a process whose repercussions on medical care are far from neutral and so require rigorous discussion and evaluation. Defining step-by-step and measurable objectives, transparency in management and the promotion of evaluative research would all favour the effective development of projects to computerise PC.

Adult↗
PubMed2000

Delayed cutaneous reaction to jellyfish.

A 57-year-old woman presented with a widespread papulonodular eruption. The dermatitis had appeared about 1 week after her return from a trip to the Red Sea, where she had come into contact with a shoal of unidentified jellyfish; however, that contact had not been followed by cutaneous lesions and/or symptoms. The patient also stated that she had had previous contacts with jellyfish during other trips to exotic seaside resorts. The dermatitis was characterized by papulonodular lesions, round or oval in shape, of a few millimeters in diameter, with a color ranging from pink to red to brown, and with a smooth and regular surface. The lesions were grouped in an apparently random fashion (Fig. 1) or arranged linearly (Fig. 2). The patient complained of pruritus and burning. Histopathologic examination showed the presence of some necrotic keratinocytes; in the upper and mid dermis, edema and a predominantly perivascular and periadnexal lymphohistiocytic infiltrate, with numerous neutrophils and eosinophils, were observed (Fig. 3). The patient was treated with hydroxyzine (37.5 mg/day) and hydrocortisone butyrate, which resulted in the rapid disappearance of the symptoms; however, the cutaneous lesions persisted for about 3 weeks.

Animals↗
PubMed1999

Erythema elevatum diutinum and HIV infection: a report of five cases.

Erythema elevatum diutinum (EED) is emerging as a specific HIV-associated dermatosis, 11 cases having so far been reported in the medical literature and five patients with the disease having been seen by us during the last 4 years. As the disease is poorly known, it is easily confused with Kaposi's sarcoma or bacillary angiomatosis, but the histopathological features are diagnostic. EED is considered to be an immune complex-mediated vasculitis. A streptococcal infection seemed to be the trigger factor in four of our patients. Partial control of the cutaneous lesions was achieved by the use of antibiotics.

AIDS-Related Opportunistic Infections↗
PubMed1998

[Conservative surgery in metanephric renal adenoma].

OBJECTIVE: To confirm that metanephric adenoma is a benign tumor with no potential to malignancy, observing its course 6 years after conservative surgical management. METHODS: A light microscopic, immunohistochemical and electron microscopic study of the surgical specimen were performed and the DNA euploidy and proliferation index were determined. RESULTS: Metanephric adenoma is comprised of tubular epithelial structures of small diameter or with virtual lumen, with or without calcifications, psammoma bodies and bony trabeculae. No cell atypia or mitosis was observed. The immunohistochemical study is useful to discard the unlikely metastatic nature of the tumor. It has a euploid DNA distribution and there is practically no proliferation. Electron microscopy showed a scanty amount of microvilli and abundant material between the tubules that appeared to be similar to that of the basement membrane. CONCLUSIONS: Knowledge about this benign disease entity is emphasized in order to avoid unnecessary radical nephrectomies.

Adenoma↗
PubMed1997

Chronic ulcerative herpes simplex virus infection in HIV-infected children.

The frequency and severity of chronic herpes simplex virus (HSV-1) ulcerative infections were recorded in six HIV-infected children with severe immunodeficiency (mean CD4 + T lymphocytes/cmm = 39.4: range 8-66). The first episode of HSV infection consisted of vesicular-crusty lesions affecting the centro-facial cutis area. In five cases, relapses occurred 4 months later in the form of chronic ulcerative lesions that were always accompanied by a significant loss of tissue. Furthermore, three of the six children also showed perianal ulcerative lesions. Cytodiagnostic analysis revealed the typical cells in balloon degeneration; all of the children had HSV-1-positive vesicular fluid sample cultures. In our experience, chronic ulcerative HSV infection is relatively frequent in HIV-infected children (6.6%), and has unusual clinical manifestations with a good initial response to acyclovir treatment. Relapses are common and become increasingly worse and less responsive to treatment.

AIDS-Related Opportunistic Infections↗
PubMed1997

Behavioral changes associated with different apolipoprotein E genotypes in dementia.

Behavioral dysfunction is a problem in patients with Alzheimer disease (AD), and is apparent in up to 67% of individuals. Such changes are a primary cause of individual institutionalization and often lead to their functional disability. As AD progresses, the worsening of behavioral dysfunction becomes increasingly evident and is linked with decreased patient survival. Unfortunately, some of the more common drug therapies used in AD patients to stabilize other facets of their disease worsen behavioral dysfunction. Behavioral changes are associated with endogenous and exogenous factors such as disease stage, environmental factors, other medical conditions, drug regimen, and AD genotype. The most commonly examined and important genotype in AD is the apolipoprotein E (APO E) series, and APO E genotyping is also a useful diagnostic tool. The most frequent APO E genotypes encountered in AD are APO E-4/4, APO E-3/4, and APO E-3/3. In the current study, AD behavioral dysfunction, anxiety, and psychoses were commonly associated with the APO E-3/3 genotype, whereas disorientation, agitation, depression and motor disorders were common among patients with the APO E-4/4 and APO E-3/4 genotypes. These differences were not statistically significant but they suggest that different APO E genotypes influence the phenotypic expression of specific noncognitive symptoms, including behavioral function, in AD.

Aged↗
PubMed1996

Lichen myxoedematosus in a patient with AIDS.

We report a patient with acquired immunodeficiency syndrome (AIDS) who developed a widespread papular eruption due to deposition of mucin in the dermis. Paraproteinaemia was demonstrated. Lichen myxoedematosus type 2 was diagnosed. This is the third case of this rare disorder reported in a human immunodeficiency virus (HIV)-seropositive subject.

Acquired Immunodeficiency Syndrome↗
PubMed1996

[Is there a role for partial cystectomy in the treatment of infiltrating bladder cancer? (2nd part)].

Experimental studies and the clinical course have shown that bladder cancer is confined to the bladder wall for some time, during which optimal treatment by complete surgical excision can be achieved. Failures are most often due to the presence of distant metastasis at the time of surgery and most patients invariably die although local and regional control of the tumor have been achieved. It is difficult to evaluate the benefits that neoadjuvant measures (radio and chemotherapy) contribute to surgery, basically due to the difficulty in classifying the tumor with precision. Preoperative chemotherapy in patients with less than a 40% likelihood of metastasis is unreasonable since 60% will not require it and will be unnecessarily exposed to the side effects of the cytostatic agents, which are not negligible. Furthermore, a considerable number of candidates to partial surgery have no metastasis at the time of diagnosis, therefore preoperative chemotherapy is not useful. It would be more reasonable to give chemotherapy postoperatively to those that are more likely to require it. Radiotherapy will not prevent tumor recurrence and is ineffective in carcinoma in situ. Furthermore, surgery is sufficiently aggressive in regard to the tumor and the possible dissemination to the lymphatics to require adjunctive measures with locoregional effects.

Combined Modality Therapy↗
PubMed1996

[Sclerotherapy of post-renal transplantation lymphocele with percutaneous instillation of amidotrizoate].

Incidence of post-renal transplant (RT) lymphocele varies between 0.6% to 41% depending on the author. Therapeutical management of these entities is controversial. (Open or laparoscopic) surgical marsupialization of the peritoneal cavity, percutaneous drainage, and percutaneous sclerosis with povidone-iodine are all valid options to treat post-RT lymphocele. This paper presents two cases of symptomatic post-RT lymphocele not suitable for laparoscopic treatment, which were resolved by intracavitary instillation of Sodium Amidotrizoate 76%. The first case had been previously treated with povidone-iodine with no resolution, also maintaining a 500 ml/24h deficit. In the second case, instillation with Sodium Amidotrizoate 76% was considered first choice approach. In both instances the lymphocele deficit ceased with instillation intervals of 6 and 14 days, respectively. In brief, percutaneous sclerosis with Amidotrizoate can be a valid alternative for the treatment of post-RT lymphocele.

Adult↗