Guía para la práctica de acogimiento familiar, relato de una experiencia / Guidelines for being a foster care home, report of an experience

Recibir a un niño o a una niña en cuidado transitorio supone la fortaleza para enfrentar situaciones complejas, ofrecer cuidados y contención, y ser consciente del carácter temporario de ese hecho. El pediatra juega un papel determinante no solo en el cuidado de la salud de niños, niñas y adolescentes con derechos vulnerados, sino también como actor clave en la detección temprana de los casos, a partir de una mirada atenta y comprometida con la situación de cada niño. Se presenta un caso de 5 hermanos con derechos vulnerados, en el que intervino el Sistema de Promoción y Protección Integral de Derechos de los Niños a través de un programa de familias de abrigo, con el objetivo de clarificar la situación legal actual y concientizar sobre dicha alternativa.

Receiving a child in foster home care needs the strength to face complex situations, gives care and support, and be aware of the temporary nature of that position. The pediatrician plays a decisive role not only in the health care of children and adolescents with lost rights, but also in the early detection of cases, based on an attentive and committed attitudes facing each child circumstances. We present the experience of 5 siblings with lost rights in which the Promotion and Integral Protection of Children's Rights System intervened through a program of foster families, with the aim of clarifying the current legal situation and raising awareness about this alternative.

Multicenter study on multidisciplinary committees in advanced prostate cancer.

INTRODUCTION AND OBJECTIVE: Although Multidisciplinary Teams (MDTs) are recommended in the management of Advanced Prostate Cancer (APC), their functioning in real practice has been poorly evaluated. We carried out a multicenter study with the objective of evaluating the functioning of uro-oncology MDTs in 6 hospitals. MATERIALS AND METHODS: A descriptive cross-sectional study was performed. The level of Compliance with the Fundamental Quality Requirements (CFQR) of the MDTs was evaluated by means of a questionnaire filled out by the coordinators of the MDTs in each hospital. The information on the perspective of the members of the MDTs was evaluated through an anonymous survey. RESULTS: A high level of CFQR in MDTs was evidenced (75%), showing deficiencies in terms of protocol update, agendas, audits, and scientific production. The survey was answered by 62.32% of the 69 physicians surveyed (urologists, oncologists, radiation therapists, radiologists, and pathologists). The 88.4% consider the duration of the meetings appropriate. There are disparate opinions concerning the protection of the MDT meeting time as well as protocol update. Of the patients with APC presented at the MDTs meeting, 62,8% require intervention from two specialties. Only 50% of respondents believe that all CRPC cases are discussed and that there is a prior agenda. The decisions made by the MDTs are reflected in the clinical history in 65.1% and are binding only in 60.5% of the cases. Half of the respondents have not been trained in MDTs. Most participants (90.7%) agree on the fact that MDTs. convey benefits. CONCLUSIONS: The evaluations of the MDTs identify rectifiable deficiencies by modifying hospital inertia and care planning.

Prostate cancer brachytherapy: SFRO guidelines 2021.

Prostate brachytherapy techniques are described, concerning both permanent seed implant and high dose rate brachytherapy. The following guidelines are presented: brachytherapy indications, implant procedure for permanent low dose rate implants and high dose rate with source projector, as well as dose and dose-constraints objectives, immediate postoperative management, post-treatment evaluation, and long-term follow-up.

Best practice in brachytherapy.

The 2020 recommendations for good brachytherapy procedures ("Recorad") are updated based on the 2016 article. This new brachytherapy article took into account recent data published in the literature as well as international recommendations. The different brachytherapy steps are successively described from the treatment preparation (brachytherapy technique prescription; procedure and material, dedicated images for planification, dose distribution analysis and validation) to the end of the procedure as well as post-treatment surveillance.

The Mediterranean diet and health: a comprehensive overview.

The Mediterranean diet (MedDiet), one of the most studied and well-known dietary patterns worldwide, has been associated with a wide range of benefits for health. In the present narrative review, we aimed to provide a comprehensive overview of the current knowledge on the relation of the MedDiet to important health outcomes, considering both observational and intervention studies with both risk factors and clinical diseases as outcomes. In addition, we considered the clinical and public health impacts of the MedDiet on both human and planetary health. Earlier research confirmed by recent studies has provided strong evidence for the benefits of the MedDiet on cardiovascular health, including reduction in the incidence of cardiovascular outcomes as well as risk factors including obesity, hypertension, metabolic syndrome, and dyslipidaemia. There is also evidence that MedDiet is associated with lower rates of incident diabetes, and better glycaemic control in diabetic patients compared to control diets. In prospective studies, adherence to the MedDiet reduced mortality, especially cardiovascular mortality, hence increased longevity. In addition, it has been associated with less age-related cognitive dysfunction and lower incidence of neurodegenerative disorders, particularly Alzheimer's disease. Furthermore, the relatively low environmental impacts (water, nitrogen and carbon footprint) of the MedDiet is an additional positive aspect of the Mediterranean dietary model. It is likely that the combination of a healthy diet with social behaviours and the way of life of Mediterranean regions makes the MedDiet a sustainable lifestyle model that could likely be followed in other regions with country-specific and culturally appropriate variations.

Oral Health and Undernutrition in the Frail Elderly Persons.

INTRODUCTION: Although many studies associate a poor state of oral health with the risk of undernutrition in both the autonomous and dependent elderly, very few of them consider the frail elderly person. However, the identification of the frail elderly is one of major issues of modern geriatrics. It is at this stage that preventive strategies are the most effective against the risks of dependency. The main objective of our study is to explore the nature of the association between oral health and undernutrition in the frail elderly patient, and to identify the associated factors. MATERIALS AND METHODS: We have used the data of an observational transversal monocentric study, conducted among a population of patients hospitalized for frailty assessment at the Geriatric Frailty Clinic (G.F.C.) for Assessment of Frailty and Prevention of Disability. The enrolment site is the Cité de la Santé, at Toulouse University Hospital. Data were collected from January 25, 2016 February 2, 2018. The data collected sociodemographic characteristics, oral health (Oral Health Assessment Tool), nutritional status (Mini Nutritional Assessment), Body Mass Index, and weight loss according to Fried), frailty (Fried criteria), functional status (Mini Mental State Examination, Activity of Daily Living, Instrumental Activity of Daily Living, Geriatric Depression Scale-15), and behavior (tobacco and alcohol). RESULTS: We included 1,155 subjects with an average age of 81.9 years, including 65% women. Bivariate analysis indicated a statistically significant association (p<0.05) between a pathological state of oral health and undernutrition, particularly with regard to decay of natural teeth, pathologies of the tongue, gums and tissues, dry mouth, lack of oral cleanliness and presence of dental pain. Multivariate analysis adjusted for socio-demographic, behavioral and functional data confirmed some of these associations, notably between the item gum/mucous membrane and the decrease of the score (p<0.01); this same item and weight loss according to Fried (p<0.01), and the item tongue and weight loss (p<0.05). A statistically significant association appeared between the state of oral health and frailty (item tongue (p<0.01)). DISCUSSION: Our study shows a statistically significant association between a pathological state of oral health and nutrition disorders in the frail elderly person. This result confirms the hypothesis postulating that a poor state of oral health would be associated with nutritional disorders among the frail elderly. Our analysis also shows a statistically significant association between a deteriorated state of oral health and frailty. Tongue diseases here increase the risk of frailty for the patient. Our results are, however, limited and do not allow for an analysis of causal effect. It would be useful to complete our study by more refined analyses of risk factors, conducted on a larger sample, and with a follow-up patients over time. CONCLUSION: We show here the importance of targeting the frail population in order to screen for oral disease and refer patients for dental care. Ensuring oral health care of frail patients seems indispensable if they are to maintain not only a healthy nutritional state, but also a satisfactory general state of health, thus allowing for successful aging.

Chain dynamics of human dermis by Thermostimulated currents: A tool for new markers of aging.

BACKGROUND/PURPOSE: The purpose of this clinical study was to identify dielectric markers to complete a previous thermal and vibrational study on the molecular and organizational changes in human dermis during intrinsic and extrinsic aging. METHODS: Sun-exposed and non-exposed skin biopsies were collected from 28 women devised in two groups (20-30 and ≥60 years old). The dielectric relaxation modes associated with localized and delocalized dynamics in the fresh and dehydrated state were determined by the Thermostimulated currents technique (TSC). RESULTS: Intrinsic and extrinsic aging induced significant evolution of some of the dielectric parameters of localized and delocalized dynamics of human skin. With photo-aging, freezable water forms a segregated phase in dermis and its dynamics is close to free water, what evidences the major role of extrinsic aging on water organization in human skin. Moreover, TSC indicators highlight the restriction of localized mobility with intrinsic aging due to glycation, and the cumulative effect of chronological aging and photo-exposition on the molecular mobility of the main structural proteins of the dermis at the mesoscopic scale. CONCLUSION: TSC is a well-suited technique to scan the molecular mobility of human skin. It can be uses as a relevant complement of vibrational and thermal characterization to follow human skin modifications with intrinsic and extrinsic aging.

Silicosis: A former occupational disease with new occupational exposure scenarios. / Silicosis: una antigua enfermedad profesional con nuevos escenarios de exposición laboral.

BACKGROUND: Recent studies have shown an increase in the prevalence of silicosis due to the use of artificial quartz aggregates (AQA). The aim of this study was to assess the cases of silicosis in our area reported to the Healthcare Information System for Occupational Epidemiological Surveillance of the Autonomous Community of Valencia to detect new agents of exposure to silica and working conditions that promote its onset. MATERIAL AND METHOD: A descriptive study was conducted of cases of silicosis reported to the Healthcare Information System for Occupational Epidemiological Surveillance of the Autonomous Community of Valencia from January 2009 to September 2016. The data sources include epidemiological-occupational surveys and medical reports. RESULTS: Nineteen cases of silicosis were reported, 74% of which were diagnosed using high-resolution computed tomography. Some 68.4% of the cases were related to the handling of AQA, as assemblers/cutters/sanders of countertops. The subgroup's mean age was 46.62±13.33 years, and the mean exposure was 11.00±3.58 years. The rest of the patients worked in companies with no AQA exposure, with a mean age of 62.33±16.22 years and a mean exposure of 27.16±8.44 years (P<.05). Four cases presented complicated forms (3 exposed to AQA). CONCLUSIONS: The work of assembling/cutting/sanding AQA countertops presents a high risk of developing the disease. The mean age at onset and the exposure time for this group is lower, and the percentage of complicated clinical forms is higher. Improvements need to be made in preventive planning for companies with exposure to these new agents.

Identification of ageing biomarkers in human dermis biopsies by thermal analysis (DSC) combined with Fourier transform infrared spectroscopy (FTIR/ATR).

BACKGROUND/PURPOSE: The purpose of this clinical study was to identify suitable biomarkers for a better understanding of the molecular and organizational changes in human dermis during intrinsic and extrinsic ageing. METHODS: Sun-exposed and non-exposed skin biopsies were collected from twenty-eight women devised in two groups (20-30 and ≥60 years old). The hydric organization and thermal transitions were determined by Differential Scanning Calorimetry (DSC). Fourier Transform Infrared spectroscopy (FTIR) was used to identify the absorption bands of the dermis and to quantify the different absorbance ratio. RESULTS: The amounts of total, freezable and unfreezable water were determined. A significant increasing amount of freezable water is evidenced in sun-exposed area skin of aged group compared with young group (P=.0126). Another significant effect of extrinsic ageing (P=.0489) is the drastic decrease of fibrillary collagen, the main protein component of dermis. The only significant effect of intrinsic ageing (P=.0184) is an increase of the heat-stable fraction of collagens in dermis. CONCLUSION: DSC and FTIR are well-suited techniques to characterize human skin, giving accurate results with a high reproducibility. The combination of these techniques is useful for a better understanding of human skin modifications with intrinsic and extrinsic ageing.

Conformational and thermal characterization of a synthetic peptidic fragment inspired from human tropoelastin: Signature of the amyloid fibers.

OBJECTIVES: This work deals with the conformational and thermal characterization of a synthetic peptide (S4) released during the proteolysis of human tropoelastin by the matrix metalloproteinase-12 that was shown to form amyloid-like fibres under certain conditions. MATERIALS AND METHODS: S4 peptides were synthesized by solid-phase methodology and aggregated in solution at 80°C. Fourier transform-infrared spectroscopy (FT-IR) was used to access the secondary structure. Thermal characterization was performed by thermogravimetric analysis (TGA) and differential scanning calorimetry (DSC). RESULTS: The DSC study of the soluble linear peptide S4 in solution in TBS reveals the irreversible aggregation into amyloid fibres. FT-IR, DSC and TGA analyses performed on freeze-dried samples evidence differences between the linear peptide and its associated amyloid-like fibres, both on the conformation and the physical structure. When S4 peptides are aggregated, the prominent conformation scanned by FT-IR is the cross ß-structure, corresponding to TGA to an increase of the thermal stability. Moreover, the DSC thermograms of S4 fibres are characteristic of a highly ordered structure, in contrast to the DSC thermograms of S4 linear peptides, characteristic of an amorphous structure. Finally, the DSC analysis of differently hydrated S4 fibres brings to the fore the specific thermal answer of the wet interfaces of the cross ß-fibres. CONCLUSION: FT-IR and thermal techniques are well suited to evidence conformational and structural differences between the soluble peptide and its amyloid form.

[Brachytherapy dose calculation]. / Calcul de la distribution de dose en curiethérapie.

Brachytherapy dose distribution calculation has evolved from the simple use of charts to the TG-43 formalism. It depends on the physical and geometrical characteristics of each source, the position of the source relatively to the calculation point and on the medium composition. Its principles and limitations are presented as well as the different dosimetric systems associated with implementing rules and the definition of the prescribed dose. The new generation of algorithms and their contributions are discussed.

Melatonin exerts direct inhibitory actions on ACTH responses in the human adrenal gland.

In nonhuman primates and rodents, melatonin acting directly on the adrenal gland, inhibits glucocorticoid response to ACTH. In these species, an intrinsic adrenal circadian clock is involved in ACTH-stimulated glucocorticoid production. We investigated whether these findings apply to the human adrenal gland by determining i) expression of clock genes in vivo and ii) direct effects of melatonin in ACTH-stimulated adrenal explants over a) expression of the clock genes PER1 (Period 1) mRNA and BMAL1 [Brain-Muscle (ARNT)-like] protein, ACTH-induced steroidogenic acute regulatory protein (StAR), and 3ß-hydroxysteroid dehydrogenase (3ß-HSD) and b) over cortisol and progesterone production. Adrenal tissue was obtained from 6 renal cancer patients undergoing unilateral nephrectomy-adrenalectomy. Expression of the clock genes PER1, PER2, CRY2 (Cryptochrome 2), CLOCK (Circadian Locomotor Output Cycles Kaput) and BMAL1, was investigated by RT-PCR in a normal adrenal and in an adenoma. In independent experiments, explants from 4 normal adrenals were preincubated in culture medium (6 h) followed by 12 h in: medium alone; ACTH (100 nM); ACTH plus melatonin (100 nM); and melatonin alone. The explants' content of PER1 mRNA (real-time PCR) and StAR, 3ß-HSD, BMAL1 (immuno slot-blot), and their cortisol and progesterone production (RIA) were measured. The human adrenal gland expresses the clock genes PER1, PER2, CRY2, CLOCK, and BMAL1. ACTH increased PER1 mRNA, BMAL1, StAR, and 3ß-HSD protein levels, and cortisol and progesterone production. Melatonin inhibited these ACTH effects. Our study demonstrates, for the first time, direct inhibitory effects of melatonin upon several ACTH responses in the human adrenal gland.

[Iodine 125 prostate brachytherapy: prognostic factors for long-term urinary, digestive and sexual toxicities]. / Curiethérapie de prostate par iode 125 : facteurs pronostiques de longue durée de toxicité urinaire, digestive et sexuelle.

PURPOSE: For patients with good urinary function and presenting with a low risk prostate cancer, prostate brachytherapy using iodine implants represents one of the techniques of reference. This retrospective analysis investigates urinary (U), digestive (D) and sexual (S) toxicities and their prognostic factors of duration. MATERIAL AND METHODS: From August 2000 to November 2007, 176 patients presenting with prostate adenocarcinoma underwent interstitial brachytherapy. Urinary, digestive and sexual toxicities were classified according to Common toxicities criteria for adverse events, version 3.0 (CTCAE V3.0). For each toxicity (U, D, S), the number of complications U (dysuria, nicturia...), D (proctitis, diarrhea...) and S (sexual dysfunction, loss of libido, ...) was listed and analyzed according to criteria related to the patient, implant, dosimetric data and characteristics of the toxicity. Prognostic factors identified in univariate analysis (UVA) (Log Rank) were further analyzed in multivariate analysis (MVA) (Cox model). RESULTS: With a median follow-up of 26 months (1-87), 147 patients (83.5 %) presented urinary toxicities. Among them, 29.5 % (86 patients) and 2.4 % (seven patients) presented grade 2 and 3 U toxicity respectively. In UVA, urinary grade toxicity greater than or equal to 2 (p=0.037), the presence of initial U symptoms (p=0.027) and more than two urinary toxicities (p=0.00032) were recognized as prognostic factors. The number of U toxicities was the only prognostic factor in MVA (p=0.04). D toxicity accounted for 40.6 % (71 patients). Among them, 3 % (six patients) were grade 2. None were grade 3. Two factors were identified as prognostic factors either in UVA and MVA: the number of D toxicities greater than or equal to 2 (univariate analysis: p=0,00129, multivariate analysis: p=0,002) and age less than or equal to 65 years (univariate analysis: p=0,004, multivariate analysis: p=0,007). Eighty-three patients (47.4 %) presented a sexual toxicity; 26.9 % (49 patients) and 5 % (nine patients) were scored as grade 2 and 3 respectively. A number of seeds greater than 75 (p=0.032) and S grade greater than or equal to 2 (p<0.0001) were recognized as prognostic factors in UVA. S grade was the only prognostic factor in MVA (p=0.0015). CONCLUSION: The duration of U, D and S toxicity is strongly correlated with a high number of toxicities and the grade of toxicity. This analysis allows for better information given to the patient regarding the duration of the post-treatment complications.

[Accelerated partial breast irradiation using interstitial high dose rate brachytherapy: preliminary clinical and dosimetric results after 61 patients]. / Irradiation insterstitielle partielle et accélérée du sein de haut débit de dose: résultats préliminaires cliniques et dosimétriques sur 61 patientes.

PURPOSE: Among all the accelerated and partial breast irradiation (APBI) techniques, low then high dose rate, interstitial brachytherapy (HDIB) was the first to be used in this field. This study presents the preliminary clinical and dosimetric results of the APBI using HDIB, performed in Antoine Lacassagne Cancer Center of Nice. PATIENTS AND METHODS: From June 2004 to March 2008, 61 patients (37 primary tumors and 24 second conservative treatments after local recurrence) presenting with T1-2 pN0 non-lobular invasive breast carcinoma, underwent lumpectomy with sentinel lymph node dissection and intraoperative tube placement for HDIB. Dose distribution analysis, using dose-volume histograms, was achieved based on a postoperative CT scan. A comparative dosimetric study was performed between optimized (O) and non-optimized (NO) dose distribution. Then, based on conformal index calculation, a novel index was proposed taking into account not only the conformity but also the homogeneity of HDIB implant. An analysis of dose gradient impact on HDIB biological equivalence dose was also conducted. Statistical analysis used T test confirmed by Wilcoxon test for cohort including less than 30 patients. RESULTS: The comparative dosimetric analysis between O and NO dose distributions shown that conformity indexes (conformal index, conformal number, and D90%) were significantly increased after optimization. Improving conformity leads to increasing hyperdosage volumes (V150% and V200%). A new index named conformity and homogeneity index (CHI) including V150% values, modified the conformal index. A total dose of 34 Gy, delivered through HDIB in 10 fractions over five days was biologically equivalent to 41.93 Gy assuming alpha/beta = 4 Gy and 75.76 Gy if the dose gradient was considered in the calculation. CONCLUSIONS: HDIB is considered as one of the best IPAS technique. HDIB allows dose distribution optimization, skin spearing and accurate clinical target volume definition. Furthermore, HDIB dose gradient could play a key role for breast cancer local control.

[Total intravenous anesthesia for repositioning an implantable defibrillator in a patient with long QT syndrome]. / Anestesia total intravenosa para recolocación de un desfibrilador automático implantable en paciente con síndrome de QT-largo.

We report the case of a 27-year-old woman with congenital long QT syndrome (LQTS) who was scheduled for surgery to reposition an implantable defibrillator. Given the risk of sudden death due to fatal ventricular arrhythmia, the woman required implantation of a defibrillator with pacemaker capability. Combined anesthesia-analgesia was used in order to minimize the risk of ventricular arrhythmia caused by increased serum concentrations of catecholamines. When cardioversion, defibrillation and anti-tachycardia functions had been deactivated, anesthesia was induced with propofol, fentanyl and rocuronium. Anesthesia was maintained with an infusion of propofol and remifentanil. We describe the pathophysiology and treatment of LQTS and discuss anesthetic management for repositioning a defibrillator in a patient with congenital LQTS.

Differential effects of infralimbic cortical lesions on temperature and locomotor activity responses to feeding in rats.

The time of food availability induces important behavioral and metabolic adaptations. Animals subjected to feeding restricted to a few daytime hours show increased locomotor activity and body temperature in anticipation of mealtime. In addition, animals under ad libitum feeding show a marked postprandial raise in body temperature and in thermogenesis. The areas of the brain commanding these responses to food are partially known. We investigated in the rat the role of the infralimbic area, located in the medial prefrontal cortex, and considered a visceral-autonomic motor area, in the responses to ad libitum or restricted feeding schedule. We performed infralimbic cortex excitotoxic lesions using injections of ibotenic acid, and measured body temperature and locomotor activity by telemetry in rats under ad libitum and restricted feeding conditions. We found that bilateral infralimbic area lesions prevented both the anticipatory and the postprandial increases in core temperature, decreased mean temperature by nearly 0.3 degrees C during both light/dark phases, and increased daily temperature variability. In contrast, the lesion caused a rapid induction of the anticipatory locomotor activity. These results show that behavioral and metabolic responses to the time of food availability are commanded separately and that the infralimbic area is a key structure to adjust the body temperature to an upcoming meal.

Arousal and differential Fos expression in histaminergic neurons of the ascending arousal system during a feeding-related motivated behaviour.

Arousal depends on the concerted activity of the ascending arousal system (AAS) but specific stimuli may primarily activate some nuclei of this system. Motivated behaviours are characterized by behavioural arousal, although it is not known which AAS nuclei are active during a motivated behaviour. To address this issue, rats were rendered motivated for food by fasting them for 1 day and then were enticed with food that they could not obtain for varying periods of time. We studied the level of arousal by polysomnography or radiotelemetry, and Fos-ir in the AAS, during food enticing. We found a strong arousal and an early increase in Fos-ir in the histaminergic neurons from the tuberomammillary nucleus, after 30 min of enticing, followed by increased Fos-ir in the whole AAS if food enticing was prolonged to 1 or 2 hours. In contrast, food presentation to non-motivated rats did not increase arousal or Fos-ir in the tuberomammillary nucleus. As opposed to the active arousal of the motivated rats, passive arousal induced by sensory stimulation was associated with increased Fos-ir in the locus coeruleus and the orexin neurons, but not with increased Fos-ir in the tuberomammillary nucleus or in the other nuclei of the AAS. We conclude that the arousal during feeding-related motivated behaviour is associated primarily with the activation of the tuberomammillary nucleus, while the other arousal-related nuclei become active later on.

Plasma prolactin/oestradiol ratio at 38 weeks gestation predicts the duration of lactational amenorrhoea.

BACKGROUND: Fully breastfeeding women experience an amenorrhoea of variable duration. Our aim was to identify in pregnancy, endocrine markers that could predict the duration of subsequent lactational amenorrhoea. METHODS: We studied 17 healthy women at 34 and 38 weeks gestation, and 1 and 3 months post-partum. The women fully breastfed until 6 months post-partum. During pregnancy, prolactin (PRL), oestrogens (total oestradiol, unconjugated oestrone, unconjugated oestriol), sex hormone binding globulin (SHBG), dehydroepiandrosterone sulphate (DHEA-S), progesterone and placental lactogen, and during post-partum PRL, oestrogens and SHBG, were measured. Free oestradiol in pregnancy and post-partum was calculated. RESULTS: Ten women experienced long (>6 months) and seven experienced short (<6 months) lactational amenorrhoea. At 38 weeks gestation, the women who experienced a long lactational amenorrhoea had twice as much PRL, about half the total oestradiol, lower SHBG concentration (P < 0.05, Student's t-test, Bonferroni modification) and similar free oestradiol concentration, compared with those who experienced short lactational amenorrhoea. The difference in PRL concentration persisted in post-partum postsuckling samples. CONCLUSION: At 38 weeks gestation, the ratio PRL/oestradiol identified all individual women according to the subsequent duration of their lactational amenorrhoea, suggesting that duration of lactational amenorrhoea is conditioned during pregnancy.

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

BACKGROUND: Café-au-lait spots (CALS) are classically found in neurocutaneous syndromes such as neurofibromatosis, but have not been associated with hereditary colorectal cancer. However, review of hereditary colorectal cancer case reports reveals occasional description of CALS on physical exam. METHODS: We describe the colonic and extracolonic phenotype in a family with CALS and early onset colorectal neoplasia (adenomas and/or cancer) and review 23 additional families reported in the literature. RESULTS: Among the 24 families, 32/59 (54.2%) individuals had colorectal adenomas diagnosed at a mean age of 15.7 +/- 1.1 (SE) years (range 5-38 years). The majority (24/32, 75.0%) of persons at first colorectal examination had oligopolyposis (< 100 polyps) versus polyposis (> or = 100 polyps). Forty-two of 59 (71.2%) individuals were affected with colorectal cancer, diagnosed at a mean age of 31.9 +/- 2.7 years (range 5-70 years). A brain tumor was found in 28/59 (47.5%) affected individuals (4 families with 2 or more cases) with an overall mean age of diagnosis of 16.5 +/- 1.2. Lymphoma and/or leukemia was found in 8/24 (33.3%) families (one family with 3 cases). Two families had mutation of the mismatch repair gene, hPMS2 (1 with homozygous germline mutation), while two carried homozygous germline mutations of another mismatch repair gene, hMLH1. CONCLUSIONS: Café-au-lait spots with early onset colorectal neoplasia may identify families with a variant of HNPCC characterized by oligopolyposis, glioblastoma at young age, and lymphoma. This variant may be caused by homozygous mutation of the mismatch repair genes, such as hPMS2 or hMLH1.