Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.

Hidradenitis supurativa con transformación carcinomatosa / Suppurative hidradenitis with carcinomatous transformation

La Hidradenitis Supurativa o Enfermedad de Verneuil es un proceso inflamatorio crónico, recurrente que afecta las glándulas apócrinas de axila, ingle, periné, cuero cabelludo y región anoperineal. Se desconoce la etiología precisa. Es una enfermedad poco frecuente, mal diagnosticada, se estima la incidencia en 1 cada 300 adultos. Afecta más a mujeres y personas de raza negra, sin embargo la enfermedad de localización perianal afecta más a varones. El tratamiento médico mitigaría los síntomas pero la mayoría de los pacientes presentan lesiones crónicas que requerirán tratamiento quirúrgico. El Carcinoma de Células Escamosas es una complicación rara vez informada que se desarrolla en las lesiones crónicas de Hidradenitis Supurativa de larga evolución. Presentamos un caso de un paciente de sexo masculino, de 51 años de edad, que presenta sobre antiguas lesiones cicatrizales formación tumoral multilobulada, ulcerada centralmente localizada en región glútea-perineal izquierda de 3 meses de evolución. Se realizaron métodos complementarios arribando al diagnóstico de Hidradenitis Supurativa con Transformación Carcinomatosa (Carcinoma de Células Escamosas). Se realizó tratamiento quirúrgico con posterior injerto cutáneo con excelente evolución. Motiva ésta presentación la localización infrecuente y la complicación inusual. Como dato relevante cabe destacar las escasas publicaciones sobre dicho tema (AU)

Hidradenitis Suppurativa or Verneuil's disease is a chronic inflammatory recurring process that affects the apocrine glands of the armpit, groin, perineal area, scalp and an operineal area. Its accurate ethiology is unknown. It is a rare disease, it is misdiagnosed and its incidence rate is estimated in 1 every 300 adults. It affects mainly women and black race people. However the perianal localization disease affects mainly men. The medical treatment would mitigate the symptoms but most patients have chronic lesions that would require surgical treatment. The squamous cell carcinoma is a rarely reported complication which develops in the chronic lesions of Hidradenitis Suppurativa of long-term evolution. We present a case of a male patient, 51 years old, who has, on old scar lesions, a centrally ulcerated multilobulated tumor formation of 3 months of evolution localized in the left gluteo-perineal area. Complementary methods were used which led to the diagnostics of Hydradernitis Suppurativa with Carcinomatose Transformation (Squamous cellcarcinoma). Surgical treatment followed by skin graft was used with excellent evolution. The reason for this presentation is the infrequent localization and the unusual complication. Something important to point out is that publications on this topic are rare (AU)

Leishmaniasis mucocutánea con afectación laríngea / Mucocutaneous leishmaniasis with laryngeal involvement

La leishmaniasis es la infección producida por protozoos del género Leishmania. Presenta diferentes formas clínicas, dentro de las cuales, la leishmaniasis mucocutánea es una de las que conlleva mayor gravedad debido al compromiso de la vía aérea superior, que puede producir secuelas incapacitantes e incluso la muerte. Presentamos el caso de un paciente con diagnóstico de leishmaniasis mucocutánea con importante compromiso laríngeo, el cual tuvo excelente respuesta al tratamiento con antimoniales pentavalentes (AU)

Leishmaniasis is an infection caused by protozoa of the genus Leishmania. Mucocutaneous leishmaniasis is one of the clinical forms that presents more severity, due to the involvement of the upper airway, which can lead to incapacitating consequences or even death. We report the case of a patient with diagnosis of mucocutaneous leishmaniasis with significant laryngeal involvement which had excellent response to treatment with pentavalent antimonials (AU)

La enuresis. Una manifestación de la regresión en la infancia / Euneresis. A manifestation of regression in infancy

Este artículo refleja el trabajo de un grupo de estudio sobre la relación entre enuresis y regresión. Se considera a la enuresis como síntoma privilegiado que expresa la regresión o el estancamiento en el desarrollo psicosexual del niño y surge la cuestión de cuándo la enuresis puede ser entendida como síntoma de un conflicto y cuándo como un trastorno. Tres viñetas clínicas ilustran tres posibles interpretaciones, no excluyentes, de este síntoma: expresión de hostilidad hacia las figuras parentales, emergente de un conflicto en la relación con los padres y manifestación regresiva (AU)

This article reflects the work of a study group concerning the relationship between enuresis and regression. Enuresis is considered as a privileged symptom which expresses the regression or the stagnation in the sexual development of the individual and the question arises as to what extent enuresis can be understood as conflict or as a disorder. Three clinical vignettes illustrate three possible interpretations not naturally excluded in this symptoms: expression of hostility towards parents, conflict with the relationship with parents and regressive manifestation (AU)

Breast cancer incidence in Spain before, during and after the implementation of screening programmes.

BACKGROUND: A downturn in breast cancer (BC) incidence among Spanish women has been recently reported and attributed to screening saturation. This article analyses BC trends and their relationship with the introduction of the screening programme in all Spanish regions having available information. MATERIAL AND METHODS: The study covers the period 1980-2004. All Spanish population-based cancer registries with 10 years of uninterrupted registration furnished data on invasive BC. Trends in BC incidence among women aged <45 years and among those aged > or =45 years were assessed using Poisson transition models to estimate the existence of a change-point in the overall trend. Furthermore, in those regions that had registered BC incidence before implementing the screening programme, the annual percentage change in women aged > or =45 years was computed before screening, during the first round of screening and after full coverage had been achieved. RESULTS: The study included 82 699 incident cases. Whereas BC increased during the 1980s and 1990s, from 2001 onwards a decline was observed among women aged > or =45 years. This phenomenon was clearly visible in regions that had implemented BC screening before 2000 and attained high participation rates. In such areas, BC incidence rose sharply during screening implementation, with an overall increase of approximately 20%-30%. BC incidence fell once full coverage was achieved and tended to level off or even increase thereafter, as was the case in Navarre. In women aged <45 years, BC increased by 1.7% per annum across the period. CONCLUSIONS: Screening has strongly influenced recent BC trends among Spanish women aged > or =45 years. Our results support the influence of screening saturation on the recent decline of BC. Among younger women, incidence is still rising, probably reflecting the lifestyle changes observed in younger generations.

Cancer incidence in Gipuzkoa, Spain (1998-2002), and time trends from 1986.

OBJECTIVES: To determine the cancer incidence in Gipuzkoa (Spain) from 1998 to 2002 and describe time trends since 1986. METHODS: The annual incidence of cancer in Gipuzkoa from 1998 to 2002 was estimated as a rate per 100,000 inhabitants. Incidence trends for the period 1986-2002 were studied for all cancers and for the main cancer sites using Poisson regression and Joinpoint regression for prostate tumours. RESULTS: On average, one in 3 men and one in 5 women would probably be diagnosed with cancer at some time during their life (0-74 years). Among men, prostate surpassed lung as the most frequent cancer site. Among women, breast cancer represented approximately 30% of all cases of cancer (excluding non-melanoma skin cancers). There was an annual increase in the incidence of cancer of 1.5% (95% CI, 1.1-1.8) in men and 0.9% (95% CI, 0.5-1.3) in women. The incidence of prostate cancer in men increased over the study period, and especially between 1996 and 1999, with an annual increase of 34.7% (95% CI, 5.9-71.5). The incidence of lung cancer in women presented an annual increase of 5.2% (95% CI, 3.4-7.1). In contrast, the incidence of stomach cancer decreased during the study period. CONCLUSIONS: Cancer incidence in Gipuzkoa increased during the study period. This increase was particularly marked in lung cancer and skin melanoma, for which preventive strategies are fundamental.

Cancer incidence in Gipuzkoa, Spain (1998-2002), and time trends from 1986

Objetivos: Conocer la incidencia de cáncer en Guipúzcoaentre 1998 y 2002, y su evolución desde 1986.Métodos: Se realizan estimaciones de incidencia anual delcáncer en el período 1998-2002, para Guipúzcoa, en tasaspor 100.000 habitantes. Se analiza su evolución entre 1986 y 2002 en el conjunto de localizaciones y en las más frecuentes, mediante el modelo de regresión de Poisson y el modelo de regresión Joinpoint en tumores de próstata.Resultados: Uno de cada 3 varones y una de cada 5 mujeresde Guipúzcoa tienen la probabilidad de desarrollar cáncera lo largo de su vida (rango, 0-74 años). En varones, elcáncer de próstata ocupa el primer lugar, seguido del cáncer de pulmón. En mujeres, el cáncer de mama representa cerca del 30% del total (excluido el de piel no melanoma). Se observa un incremento anual de incidencia en varones del 1,5% (intervalo de confianza [IC] del 95%, 1,1-1,8) y del 0,9% (IC del 95%, 0,5-1,3) en mujeres. Aumentan los tumores de próstataen varones, especialmente en el período 1996-1999 enun 34,7% anual (IC del 95%, 5,9-71,5), y el cáncer de pulmón en las mujeres en un 5,2% anual (IC del 95%, 3,4-7,1), mientras que los tumores de estómago descienden en el período de estudioConclusiones: La incidencia de cáncer en Guipúzcoa aumenta en el período de estudio; destacan los tumores de pulmón y melanoma cutáneo, donde las estrategias preventivas desempeñan un papel primordial

Objectives: To determine the cancer incidence in Gipuzkoa(Spain) from 1998 to 2002 and describe time trends since 1986.Methods: The annual incidence of cancer in Gipuzkoa from1998 to 2002 was estimated as a rate per 100,000 inhabitants. Incidence trends for the period 1986-2002 were studied for all cancers and for the main cancer sites using Poisson regression and Joinpoint regression for prostate tumours.Results: On average, one in 3 men and one in 5 women would probably be diagnosed with cancer at some time during their life (0-74 years). Among men, prostate surpassed lung as the most frequent cancer site. Among women, breast cancer represented approximately 30% of all cases of cancer (excluding non-melanoma skin cancers). There was an annual increase in the incidence of cancer of 1.5% (95% CI, 1.1-1.8) in men and 0.9% (95% CI, 0.5-1.3) in women. The incidence of prostate cancer in men increased over the study period, and especially between 1996 and 1999, with an annual increaseof 34.7% (95% CI, 5.9-71.5). The incidence of lung cancer in women presented an annual increase of 5.2% (95% CI, 3.4- 7.1). In contrast, the incidence of stomach cancer decreased during the study period.Conclusions: Cancer incidence in Gipuzkoa increased during the study period. This increase was particularly marked in lung cancer and skin melanoma, for which preventive strategies are fundamental (AU)

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). Here we report the molecular cytogenetic characterization of a new case of Pallister-Killian syndrome (PKS) in a boy with an analphoid, inverted duplicated NMC derived from 12pter-->12p11.22 in his fibroblasts by using high-resolution comparative genetic hybridization (HR-CGH), multiplex fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-FISH mapping analyses with various alpha-satellite DNA probes, subtelomere probes and BAC-DNA probes. Precise identification of SMCs and NMCs is of essential importance in genetic counseling. HR-CGH is a more informative and often a faster way of precisely identifying the origin of SMCs. This case is the third report of PKS with an NMC containing an inverted duplication of partial 12p with available clinical data. These observations may help to determine the critical region for PKS and the mechanisms leading to the origin of the NMC derived from 12pter-->12p11.22 - a region that appears to be susceptible to the formation of neocentromeres. The use of subtelomeric probe PCP12p in buccal cells appears superior to the use of the centromere probe D12Z3 for the diagnosis of the PKS.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). We report the molecular cytogenetic characterization of a new case with analphoid NMC derived from 15q25-->qter using high-resolution comparative genomic hybridization (HR-CGH) and multiplex fluorescence in situ hybridization analyses with various alpha-satellite DNA probes, all-human-centromere probe (AHC), whole chromosome painting probes, and a subtelomere probe. The propositus is a dysmorphic infant who, at age 3 months, showed accelerated growth, partial deafness, and a phenotype similar to that of the eight previously reported cases of distal 15q tetrasomy. Chromosome studies showed that he had a de novo extra SMC in 80% of cells examined. HR-CGH revealed rev ish enh(15)(q25qter). Molecular cytogenetic analysis and molecular DNA polymorphism study demonstrated that this extra SMC is an NMC containing an inverted duplication of the distal long arm of chromosome 15 (tetrasomy 15q25-->qter) which originated paternally, i.e. ish der(15)(qte-->q25::q25[neocen]-->qter)(AHC-, CEP15-, WCP15+, PCP15q++). This case further elucidates the phenotype related to tetrasomy of this specific chromosome segment and represents a new report of a neocentromere on distal chromosome 15q suggesting that this region appears to be susceptible to the formation of neocentromeres.

Chronicle of an incest foretold.

In this paper the author discusses the situation of children handed over to grandparents or to other relatives of the natural parents to be brought up. She notes that such children are faced with the riddle of their own filiation and postulates that this scenario often conceals an oedipal fantasy to the effect that the child concerned is the fruit of an incestuous relationship between a grandparent and the relevant parent. Following the example of Freud, the author adduces literary models for illustration. As with the Oedipus of Sophocles, the author shows how efforts to thwart the workings of fate actually bring about the consummation of the tragedy in the form of incest, which is favoured by the confused oedipal configuration in the families of handed-over children. The main argument is based on the characters and situations of two novels by Gabriel García Márquez, written at different times in his life. With reference to the psychoanalytic literature on artistic creativity, the author shows the importance of the mid-life crisis in determining how García Márquez came to terms with the fact of having himself been entrusted to grandparents as a child and how this situation is reflected in the works concerned.

Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene.

We describe a female infant with a combination of hamartomas and limb reduction anomalies, which might be caused by a human gene homologous to the mouse mutant disorganization (Ds) gene. The family history suggests a paternal uncle may also have been affected.

Paternal age as a risk factor for Down syndrome.

Although the effect of maternal age as a risk factor for Down syndrome (DS) is well known, the role of paternal age in the cause of DS has not been clearly established. To investigate this phenomenon we conducted a case-control study between July 1989 and February 1990. The cases were 318 children and teenagers with DS studied at the Specialized Educational Institutions of Lima City, Perú. They were paired with 1,196 control individuals that were selected from the birth records of 2 general hospitals of the city. For each case we tried to obtain 4 controls, paired by their date of birth, sex, and maternal age. The means of paternal age in the 2 groups were compared, first globally and then by groups of maternal age (< 21 years, 21-29 years, 30-34 years, 35-39 years and > 39 years). None of the comparisons gave a statistically significant difference between the 2 groups, using either the Student t-test or the Mann-Whitney U-test. The results obtained in this study give no evidence that paternal age can be considered a risk factor for the conception of a child with DS.

Trisomy 8: an additional case with unique manifestations [correction].

We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones.

[Isolation of dermatophytes from patients with a presumptive diagnosis of dermatophytosis]. / Aislamiento de dermatofitos en pacientes con diagnóstico presuntivo de dermatofitosis.

Mycological tests were made in 212 patients who had lesions with clinical appearance of dermatophytic infection. The results show that the combined use of direct microscopy and culture helps to detect a larger number of dermatophytic conditions. The findings were the agent most connected with these kinds of mycosis, the most frequent clinical conditions, the lesions in more than one body areas and the most common species. The isolation of Trichophyton soudanense, an endemic species in Africa but considered very rare in Cuba, is reported.

A new case of proximal 10q partial trisomy.

We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for the delineation of this entity as a specific, clinically recognisable syndrome.

[Genealogic evidence of genetic control in Down syndrome]. / Evidencia genealógica de control genético en el síndrome de Down.

The aim of this work is to reevaluate the hypothesis of the existence of a possible genetic control of nondisjunction of chromosome 21. The population under study was the families trisomy (TLI) as diagnosed in the Medical Genetic Unit of LUZ from 1971 to 1988. The control population was the families of 418 individuals with no apparent genetic pathology (CON), approximately matched in age with the patients. The frequency of consanguineous unions in parents (UCPM), maternal grandparents (UCAM) and paternal grandparents (UCAP) of both patients and controls was determined. The results indicated that UCPM was significantly greater in TLI than CON while the UCAM and UCAP were more frequent in CON. The coefficient of consanguinity in parents of TLI was three times greater than in parents of CON. The results of this investigation suggest that the consanguinity should be considered another risk factor for the nondisjunction of chromosome 21 and it is independent of maternal age and support the hypothesis that there exists an autosomal recessive gene that, in the homologous state, results in a predisposition toward nondisjunction of chromosome 21 in the first mitotic division.

Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).

We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.

Terminal deletion 4q in a severely retarded boy.

We report a boy with a de novo terminal deletion of chromosome 4q, (q31----qter) and compare him to 17 previously reported cases with the same anomaly. This case contributes further to the delineation of the del(4)(q31) phenotype, which seems to be clinically recognizable.