Evolution of Complexity of Palliative Care Needs and Patient Profiles According to the PALCOM Scale (Part Two): Pooled Analysis of the Cohorts for the Development and Validation of the PALCOM Scale in Advanced Cancer Patients.

INTRODUCTION: Identifying the complexity of palliative care needs is a key aspect of referral to specialized multidisciplinary early palliative care (EPC) teams. The PALCOM scale is an instrument consisting of five multidimensional assessment domains developed in 2018 and validated in 2023 to identify the level of complexity in patients with advanced cancer. (1) Objectives: The main objective of this study was to determine the degree of instability (likelihood of level change or death), health resource consumption and the survival of patients according to the level of palliative complexity assigned at the baseline visit during a 6-month follow-up. (2) Method: An observational, prospective, multicenter study was conducted using pooled data from the development and validation cohort of the PALCOM scale. The main outcome variables were as follows: (a) instability ratio (IR), defined as the probability of level change or death; (b) emergency department visits; (c) days of hospitalization; (d) hospital death; (e) survival. All the variables were analyzed monthly according to the level of complexity assigned at the baseline visit. (3) Results: A total of 607 patients with advanced cancer were enrolled. According to the PALCOM scale, 20% of patients were classified as low complexity, 50% as medium and 30% as high complexity. The overall IR was 45% in the low complexity group, 68% in the medium complexity group and 78% in the high complexity group (p < 0.001). No significant differences in mean monthly emergency department visits (0.2 visits/ patient/month) were observed between the different levels of complexity. The mean number of days spent in hospital per month was 1.5 in the low complexity group, 1.8 in the medium complexity group and 3.2 in the high complexity group (p < 0.001). The likelihood of in-hospital death was significantly higher in the high complexity group (29%) compared to the medium (16%) and low (8%) complexity groups (p < 0.001). Six-month survival was significantly lower in the high complexity group (24%) compared to the medium (37%) and low (57%) complexity groups (p < 0.001). CONCLUSION: According to the PALCOM scale, more complex cases are associated with greater instability and use of hospital resources and lower survival. The data also confirm that the PALCOM scale is a consistent and useful tool for describing complexity profiles, targeting referrals to the EPC and managing the intensity of shared care.

Validation Study of the PALCOM Scale of Complexity of Palliative Care Needs: A Cohort Study in Advanced Cancer Patients.

BACKGROUND: In a patient-centred model of care, referral to early palliative care (EPC) depends on both the prognosis and the complexity of care needs. The PALCOM scale is a 5-domain multidimensional assessment tool developed to identify the level of complexity of palliative care needs of cancer patients. The aim of this study was to validate the PALCOM scale. PATIENT AND METHODS: We conducted a prospective cohort study of cancer patients to compare the PALCOM scale and expert empirical assessment (EA) of the complexity of palliative care needs. The EA had to categorise patients according to their complexity, considering that medium to high levels required priority attention from specialist EPC teams, while those with low levels could be managed by non-specialist teams. Systematically collected multidimensional variables were recorded in an electronic report form and stratified by level of complexity and rating system (PALCOM scale versus EA). The correlation rank (Kendall's tau test) and accuracy test (F1-score) between the two rating systems were analysed. ROC curve analysis was used to determine the predictive power of the PALCOM scale. RESULTS: A total of 283 advanced cancer patients were included. There were no significant differences in the frequency of the levels of complexity between the EA and the PALCOM scale (low 22.3-23.7%; medium 57.2-59.0%; high 20.5-17.3%). The prevalence of high symptom burden, severe pain, functional impairment, socio-familial risk, existential/spiritual problems, 6-month mortality and in-hospital death was significantly higher (p < 0.001) at the high complexity levels in both scoring systems. Comparative analysis showed a high correlation rank and accuracy between the two scoring systems (Kendall's tau test 0.81, F1 score 0.84). The predictive ability of the PALCOM scale was confirmed by an area under the curve in the ROC analysis of 0.907 for high and 0.902 for low complexity. CONCLUSIONS: In a patient-centred care model, the identification of complexity is a key point to appropriate referral and management of shared care with EPC teams. The PALCOM scale is a high precision tool for determining the level of complexity of palliative care needs.

Burnout among hospital staff during the COVID-19 pandemic: Longitudinal results from the international Cope-Corona survey study.

OBJECTIVE: Long-term changes in burnout and its predictors in hospital staff during the COVID-19 pandemic were investigated in an international study. METHODS: Two online surveys were distributed to hospital staff in seven countries (Germany, Andorra, Ireland, Spain, Italy, Romania, Iran) between May and October 2020 (T1) and between February and April 2021 (T2), using the following variables: Burnout (emotional exhaustion and depersonalization), job function, age, gender, and contact with COVID-19 patients; individual resources (self-compassion, sense of coherence, social support) and work-related resources and demands (support at the workplace, risk perception, health and safety at the workplace, altruistic acceptance of risk). Data were analyzed using linear mixed models repeated measures, controlled for age. RESULTS: A total of 612 respondents were included (76% women). We found an increase in burnout from T1 to T2. Burnout was high among personnel with high contact with COVID-19 patients. Individual factors (self-compassion, sense of coherence) and work-related factors (support at the workplace, risk perception, health and safety at the workplace) showed associations with burnout. Low health and safety at the workplace at T1 was associated with an increase in emotional exhaustion at T2. Men showed an increase in depersonalization if they had much contact with COVID-19 patients. CONCLUSION: Burnout represents a potential problematic consequence of occupational contact with COVID-19 patients. Special attention should be paid to this group in organizational health management. Self-compassion, sense of coherence, support at the workplace, risk perception, and health and safety at the workplace may be important starting points for interventions. REGISTRATION: Müller, M. M. (2020, August 30). Cope-Corona: Identifying and strengthening personal resources of hospital staff to cope with the Corona pandemic. Open Science Foundation.

Análisis de las estrategias dirigidas a aumentar la cobertura de vacunación antigripal en personas de 65 años y más / Analysis of strategies aimed at increasing influenza vaccination coverage in people aged 65 and over

Objetivo: Identificar las iniciativas más efectivas para potenciar la vacunación en personas ≥65 años en España.Métodos: Estudio observacional transversal a partir de una encuesta a socios de la Sociedad Española de Médicos de AtenciónPrimaria (n=371). Análisis descriptivo y multivariante de 21 potenciales estrategias de fomento de la vacunación.Resultados: Recomendar la vacunación (15,3%), medios de comunicación/redes sociales (11,5%) y captación activa (10,4%) sepercibieron como las medidas más eficaces. En el análisis multivariante, las de impacto positivo sobre la vacunación fueron:recomendaciones profesionales/institucionales (+23,8 puntos porcentuales, pp), detección oportunista (13,9 pp), recordatorioinformático de registro (10,6 pp), registro de personas no vacunadas (9,1 pp), facilitación de solicitud de citas (8,9 pp) e inclusiónde nuevas estrategias en la cartera de servicios (6,9 pp).Conclusiones: Las medidas más efectivas para este colectivo incluyen acciones a nivel macro, meso y micro para facilitar el accesoa la vacuna, explotando el potencial de las nuevas tecnologías.(AU)

Objective: To identify the most effective initiatives to promote vaccination in people aged ≥65 years in Spain.Methods: Cross-sectional observational study based on a survey of members of the Spanish Society of Primary Care Physicians(n=371). Descriptive and multivariate analysis of 21 potential vaccination promotion strategies.Results: Recommending vaccination (15.3%), media/social networks (11.5%) and active recruitment (10.4%) were perceived asthe most effective measures. In multivariate analysis, those with a positive impact on vaccination were: professional/institutionalrecommendations (+23.8 percentage points, pp), opportunistic screening (13.9 pp), computerised registration reminder (10.6 pp), registration of unvaccinated persons (9.1 pp), facilitation of appointment request (8.9 pp) and inclusion of new strategies in theservice portfolio (6.9 pp).Conclusions: The most effective measures for this group include actions at macro, meso and micro levels to facilitate access to thevaccine, exploiting the potential of new technologies.(AU)

Visual memory improvement in adolescents at high risk for suicide who are receiving psychotherapy at a community clinic.

The current study aims to: 1) investigate cognitive differences among adolescents at risk for suicide versus healthy controls (HC) and 2) identify cognitive changes associated with response to psychotherapy among adolescents at high risk for suicide. Thirty-five adolescents at high risk for suicide (HR), and 14 HC adolescents were recruited. Clinical and cognitive assessments were conducted in both groups at baseline and 16 weeks later (after the patients completed psychotherapy). HR and HC adolescents were compared at baseline and at completion of the study. We also conducted further analysis by separating into two groups the HR adolescents who responded to psychotherapy (n=17) and those who did not (n=11). At baseline, the HR group had significantly lower performance on verbal memory and processing speed than the HC group. At week 16, HR adolescents performed as well as HC adolescents in all cognitive domains. Among patients, better performance on visual memory was observed in those who responded to psychotherapy compared to those who did not. We concluded that lower performance on verbal memory and processing speed may be associated with a high risk for suicide among adolescents. Improvement in visual memory might be related to a lower risk for suicide in adolescents.

Prevalence of ethical dilemmas in advanced cancer patients (secondary analysis of the PALCOM study).

PURPOSE: The main aim of this study was to determine the prevalence of ethical dilemmas in the end-of-life process in advanced cancer patients. METHODS: We carried out a multicenter, cross-sectional, observational, prospective study in a cohort of cancer patients whose life expectancy was ≤ 6 months. We recorded sociodemographic characteristics, diagnosis of cancer, symptom burden, cognitive and functional status, emotional impact, and sociofamilial risk factors. The main outcome measure was the detection of ethical dilemmas, based on the following definition: conflict in decision-making during the end-of-life process that involves the need to choose between morally acceptable opposing options, where none is clearly preferable to another. RESULTS: We included 324 patients (mean age, 69 years; 58% men). We identified 117 dilemmas in 90 patients (27.8%). The dilemmas detected were as follows: (a) conflicts of information (adaptive denial, conspiracy of silence, information exceeding patient's desired limit), 15.7%; (b) discrepancies in proportionality (discussion on futility, rejection of treatment, withdrawal of life support measures), 16.7%; (c) unrealistic expectations about the outcome of clinical trials, 2.5%; and (d) request for euthanasia or medically assisted suicide, 1.2%. We observed a greater prevalence of ethical dilemmas in men, in patients receiving active cancer treatment, and in patients with emotional distress (p < 0.05). CONCLUSIONS: The prevalence of ethical dilemmas during the end-of-life process in cancer patients is relevant. Most dilemmas were associated directly or indirectly with respect for patient autonomy. In this context, the communication skills of the health professionals and advanced care planning take on a key role.

Functional Impairment and Clinical Correlates in Adolescents with Bipolar Disorder Compared to Healthy Controls. A Case-control Study.

BACKGROUND: Evidence shows that most adolescents with bipolar disorder (BD) achieve syndromic recovery after being referred to specialized treatment. However, functional recovery is reached in less than 50% of those cases. METHOD: Descriptive cross-sectional case-control study, based on a clinical sample of 44 BD patients aged 12-19, matched by age and sex with 44 healthy controls (HC). Psychopathology was ascertained using the KSADS-PL, in addition to the clinical scales. Information about previous academic performance was included, as well as functional outcome based on the Children's Global Assessment Functioning Scale (CGAS). Previous exposure to stressful experiences was assessed using the Schedule for Stressful Life Events (SLES). All analyses were performed using either conditional or stepwise logistic regression models. RESULTS: Once they have become stabilized, and even after controlling for socio-demographic differences, BD patients were associated with lower levels of functionality [OR 0.65 (0.46, 0.93), p=0.02], and worse performance at school [OR 0.03 (0.01, 0.67), p=0.03] compared with HC. Persistent sub-syndromal psychosis showed the strongest negative correlation with functionality (rho=-0.65, -0.57 for BD and HC respectively; p<0.001). Although BD was associated with more stressful life events, this association did not remain significant in the multivariate models. LIMITATIONS: The small sample size limits our ability to detect differences between groups, and between BD subtypes. CONCLUSIONS: Even when early detection and intervention is provided, BD has a significant impact on functioning and academic performance. It is important to address persistent sub-threshold symptoms and to emphasize the social and rehabilitative components of treatment.

CONTEXTE: Les données probantes indiquent que la plupart des adolescents souffrant de trouble bipolaire (TB) obtiennent un rétablissement syndromique après avoir été adressés à un traitement spécialisé. Cependant, le rétablissement fonctionnel n'est réalisé que dans moins de 50 % de ces cas. MÉTHODE: Une étude cas-témoins transversale descriptive, basée sur un échantillon clinique de 44 patients de TB âgés de 12 à 19 ans, appariés selon l'âge et le sexe avec 44 témoins en santé (TS). La psychopathologie a été déterminée à l'aide de KSADS-PL, en plus des échelles cliniques. L'information sur le rendement scolaire antérieur était incluse de même que le résultat fonctionnel basé sur l'échelle d'évaluation globale du fonctionnement pour les enfants (CGAS). L'exposition précédente à des expériences stressantes a été évaluée à l'aide de l'échelle des événements stressants de la vie (SLES). Toutes les analyses ont été menées à l'aide de modèles de régression logistique conditionnelle ou séquentielle. RÉSULTATS: Une fois stabilisés, et même après contrôle des différences sociodémographiques, les patients de TB ont été associés à des niveaux plus faibles de fonctionnalité [RC 0,65 (0,46, 0,93), p = 0,02], et à un rendement scolaire plus mauvais [RC 0,03 (0,01, 0,67), p = 0,03] comparé aux TS. Une psychose sous-syndromale persistante présentait la corrélation négative la plus forte avec la fonctionnalité (rho =−0,65, −0,57 pour TB et TS respectivement; p < 0,001). Bien que le TB soit associé à des événements plus stressants, cette association ne demeurait pas significative dans les modèles multivariés. LIMITATIONS: La taille modeste de l'échantillon limite notre capacité de détecter les différences entre les groupes, et entre les sous-types de TB. CONCLUSIONS: Même lorsque la détection et l'intervention précoces sont fournies, le TB a un effet significatif sur le fonctionnement et sur le rendement scolaire. Il est important de prendre en compte les symptômes de sous-seuil persistants et de mettre l'accent sur les composantes sociale et de rétablissement du traitement.

Adapted Dialectical Behavior Therapy for Adolescents with a High Risk of Suicide in a Community Clinic: A Pragmatic Randomized Controlled Trial.

OBJECTIVE: This study is a pragmatic randomized controlled trial, which compares the effectiveness of an adapted form of Dialectical Behavior Therapy for Adolescents (DBT-A) and treatment as usual plus group sessions (TAU + GS) to reduce suicidal risk for adolescents in a community health mental clinic. METHOD: Thirty-five adolescents from a community outpatient clinic, with repetitive NSSI alone or with SA over the last 12 months and with current high suicide risk as assessed by the Columbia-Suicide Severity Rating Scale (C-SSRS), were enrolled. Participants were randomly assigned to undergo either DBT-A (n = 18) or TAU + GT (n = 17) treatments over a 16-week period. Primary outcomes were the difference between NSSI and SA recorded during the first 4 weeks and the final 4 weeks of treatment. Secondary outcomes included changes in Children's Global Assessment Scale (C-GAS), Suicidal Ideation Questionnaire (SIQ-JR), and Beck Depression Inventory-II (BDI-II). RESULTS: Dialectical Behavior Therapy for Adolescents was more effective than TAU + GS at reducing NSSI, use of antipsychotics, and improving C-GAS. No SAs were reported in the two groups at the end of the treatment. Both treatments were equally effective in decreasing SIQ-JR and BDI-II scores. CONCLUSIONS: These findings support the feasibility and effectiveness of DBT-A for adolescents at high risk of suicide in community settings.

Fronto-Limbic Connectivity as a Predictor of Improvement in Nonsuicidal Self-Injury in Adolescents Following Psychotherapy.

Objectives: Key neurobiological factors contribute to vulnerability to nonsuicidal self-injury (NSSI) among adolescents and how they respond to treatment targeted to reduce such behaviors. This study aims to examine differences in intrinsic functional connectivity between adolescents with NSSI and healthy controls (HCs) and to identify baseline connectivity markers that predict improvements in NSSI after psychotherapy. Methods: Adolescents aged 12-17 (n = 24) with repetitive NSSI along with demographically similar HCs (n = 16) underwent resting-state functional MRI scanning after which patients received up to 4 months of psychological treatment. A seed-based approach was used to examine baseline between-group differences in intrinsic functional connectivity of the amygdala and the medial prefrontal cortex (mPFC). Further analyses examined the associations between intrinsic functional connectivity at baseline and improvement in NSSI after psychological treatment. Results: Compared with HCs, adolescents with NSSI showed significantly reduced connectivity between the amygdala and the anterior cingulate cortex, subcallosal cortex, and paracingulate gyrus, as well as between the amygdala and a cluster encompassing the right planum temporale and right insula. Adolescents with NSSI, compared with HCs, also showed reduced connectivity between the mPFC and two clusters: one located in the precentral and postcentral gyri and another in the left insula. After treatment, 50% of patients reported fewer NSSI episodes compared to baseline, which was considered as improvement. Stronger negative amygdala-prefrontal connectivity was associated with greater posttreatment improvement in NSSI. Conclusions: Adolescents with NSSI may have aberrant amygdala and mPFC connectivity compared with HCs. Furthermore, stronger baseline negative amygdala-prefrontal connectivity may predict greater improvement in NSSI after psychological intervention. Given that no prior study has used resting-state functional connectivity to predict response to psychological treatment in adolescents with NSSI, replication of these findings is needed.

Validation of the Spanish and Catalan versions of the Health of the Nation Outcome Scale for Children and Adolescents (HoNOSCA).

Outcome measurement in outpatient and day-care mental health facilities for children and adolescents in Spain remains limited, in part due to a lack of validated scales. To address this issue, we translated HoNOSCA (glossary, score sheet, self-rated questionnaire, and parent/legal guardian questionnaire) into Spanish and Catalan using a reverse translation approach. We ascertained the validity and psychometric quality of the HoNOSCA in Spanish by assessing correlation with the Children's Global Assessment Scale (C-GAS). We recruited 64 participants 7-17 years of age in five day-care Psychiatry hospitals in Catalonia (Spain). Two evaluators administered both instruments twice, two weeks apart. Patients and parents/legal guardians completed the corresponding HoNOSCA versions. We calculated Cronbach's alpha for assessing internal consistency, intra-class correlation coefficients (ICC) for inter-rater and test-retest reliability, and Pearson's correlation coefficients for validity. We found that all HoNOSCA versions in Spanish presented satisfactory internal consistency, inter-rater and test-retest reliability. Concurrent validity for HoNOSCA-Glossary was also acceptable, with Pearson's coefficients of -0.543 and -0.519 for evaluators in the first administration, and of -0.675 and -0.685 in the second administration. HoNOSCA was also successfully translated into Catalan; acceptability was determined using cognitive interviews.

Raquitismo hipofosfatémico. Presentación de un caso / Hypophosphatemic rickects. Case Presentation

El raquitismo es un trastorno causado por una falta de vitamina D, calcio o fósforo, que lleva a que se presente reblandecimiento y debilitamiento de los huesos. Los raquitismos resistentes son un conjunto heterogéneo de enfermedades denominadas así porque, aunque presentan clínica y radiografía típicas del raquitismo carencial, no responden al tratamiento convencional con vitamina D. Dentro de estos últimos se encuentra el raquitismo hipofosfatémico, enfermedad genética que puede expresarse con varios desórdenes. Se presenta el caso de una niña de tres años de edad que se remitió a consulta de genética clínica por baja talla y deformidad en ambas piernas. Después del interrogatorio y el examen físico, se realizó estudio radiológico y química sanguínea, con lo que se llegó al diagnóstico de esta enfermedad. Se considera valioso realizar diagnóstico oportuno que beneficie el seguimiento y tratamiento en equipo multidisciplinario, que permita, además, brindar un adecuado asesoramiento genético a los familiares, razones por las cuales se decidió la presentación del caso.

Rickects is a disturbance caused by a lack of vitamine D, calcium or phosphorus which leads to bone softening and weakening. Resistant rickects are a heterogeneous group of diseases so called because they show clinical and radigraphic characteristics which are typical of a deficency rickects, there is no response to tretament with vitamine D. Among these it is found Hypophosphatemic rickects which is a genetic disease and may present with various disorders. A case of a 3 year old girl referred to the genetic consultation due to short size and deformity in both legs. After questioning and physical examination a radiologic and blood chemestry study was performed resulting in the diagnosis of this disease. It is considered valuable to make a timely diagnosis which favours the follow up and treatment in a multidispline team, allowing, in addition, to provide genetic advisory to relatives. These are the reasons for this case presentation.

Hallazgo cromosómico asociado a hipotiroidismo congénito: presentación de una paciente / Chromosomal finding associated with a congenital hypothyroidism: a case report

Es llevada al Centro Provincial de Genética Médica de Holguín, una paciente de ocho años de edad por dismorfias faciales, en las extremidades y discapacidad intelectual de moderada a grave. Se realizó el cariotipo en sangre periférica utilizando la microtécnica de cultivo de linfocitos. Las 22 metafases analizadas mostraron el hallazgo cromosómico de un cariotipo: 46, XX, del (18) (pter 11.1), en una paciente con deleción terminal en el brazo corto del cromosoma 18, asociado a hipotiroidismo congénito. El objetivo de este trabajo es describir un hallazgo citogenético asociado con una enfermedad genética metabólica que agrava su cuadro clínico. Se considera importante realizar el diagnóstico precoz de estas enfermedades genéticas para realizar el tratamiento oportuno, la estimulación temprana y brindar un adecuado asesoramiento genético a los familiares(AU)

Síndrome Berardinelli / Berardinelli syndrome

El síndrome Berardinelli es una enfermedad poco frecuente, con amplia heterogeneidad clínica y genética, clínicamente caracterizada por pérdida de tejido adiposo a nivel subcutáneo y de otros tejidos. Esta lipodistrofia generalizada congénita provoca hipertrofia muscular, asociada a trastornos endocrinos, con crecimiento acelerado durante la infancia, pubertad precoz e hiperglicemia. Está considerada una enfermedad metabólica rara, que se hereda de forma autosómico recesiva. En la actualidad se describen 4 variantes de este síndrome, con varios genes implicados. El objetivo de este trabajo es describir las características clínicas en una niña, en la cual su aspecto fenotípico recuerda este síndrome, por la lipodistrofia marcada y aumento de la musculatura desde la etapa de lactante, por lo cual se consideró necesaria la valoración en equipo multidisciplinario para su adecuado seguimiento y asesoramiento genético a sus familiares(AU)

Berardinelli syndrome is a rare disease, with broad clinical and genetic heterogeneity, and clinically characterized by loss of fatty tissue at subcutaneous level and of other tissues. This generalized congenital lipodystrophy causes muscle hypertrophy associated to endocrine disorders, accelerated growth at childhood, early puberty and hyperglycemia. It is considered as a rare metabolic disease and also recessive autosomal inheritance. Nowadays, four variants of the syndrome are described in which several gens are involved. The objective of this paper was to describe the clinical characteristics of a girl whose phenotypical aspect resembles this syndrome due to the marked lipodystrophy and increased musculature since her breastfeeding phase. Therefore, it was necessary to make an assessment by a multidisciplinary team for her adequate follow-up and the genetic counselling to her family(AU)

Síndrome Berardinelli / Berardinelli syndrome

El síndrome Berardinelli es una enfermedad poco frecuente, con amplia heterogeneidad clínica y genética, clínicamente caracterizada por pérdida de tejido adiposo a nivel subcutáneo y de otros tejidos. Esta lipodistrofia generalizada congénita provoca hipertrofia muscular, asociada a trastornos endocrinos, con crecimiento acelerado durante la infancia, pubertad precoz e hiperglicemia. Está considerada una enfermedad metabólica rara, que se hereda de forma autosómico recesiva. En la actualidad se describen 4 variantes de este síndrome, con varios genes implicados. El objetivo de este trabajo es describir las características clínicas en una niña, en la cual su aspecto fenotípico recuerda este síndrome, por la lipodistrofia marcada y aumento de la musculatura desde la etapa de lactante, por lo cual se consideró necesaria la valoración en equipo multidisciplinario para su adecuado seguimiento y asesoramiento genético a sus familiares(AU)

Berardinelli syndrome is a rare disease, with broad clinical and genetic heterogeneity, and clinically characterized by loss of fatty tissue at subcutaneous level and of other tissues. This generalized congenital lipodystrophy causes muscle hypertrophy associated to endocrine disorders, accelerated growth at childhood, early puberty and hyperglycemia. It is considered as a rare metabolic disease and also recessive autosomal inheritance. Nowadays, four variants of the syndrome are described in which several gens are involved. The objective of this paper was to describe the clinical characteristics of a girl whose phenotypical aspect resembles this syndrome due to the marked lipodystrophy and increased musculature since her breastfeeding phase. Therefore, it was necessary to make an assessment by a multidisciplinary team for her adequate follow-up and the genetic counselling to her family(AU)

Síndrome Kenny-Caffey en varios miembros de una familia / Kenny-Caffey Syndrome in several members of a family

El síndrome Kenny-Caffey es una enfermedad hereditaria, extremadamente rara, que se transmite de forma autosómica dominante y se caracteriza por retraso del crecimiento, anomalías oculares, hipocalcemia y engrosamiento cortinal de los huesos largos, cuyo diagnóstico precoz e intervención temprana ayudarán a mejorar la calidad de vida de los afectados. Se presenta a 2 miembros de una familia (la madre y un hijo), atendidos en la consulta de genética clínica de la provincia de Holguín, con características clínicas que se correspondían con dicho síndrome, para compartir estos hallazgos con la comunidad médica en general, pues llamó la atención que estuvieran afectados 3 personas de una misma familia, aunque solo se describe a 2 de ellos(AU)

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described(AU)

Síndrome Kenny-Caffey en varios miembros de una familia / Kenny-Caffey Syndrome in several members of a family

El síndrome Kenny-Caffey es una enfermedad hereditaria, extremadamente rara, que se transmite de forma autosómica dominante y se caracteriza por retraso del crecimiento, anomalías oculares, hipocalcemia y engrosamiento cortinal de los huesos largos, cuyo diagnóstico precoz e intervención temprana ayudarán a mejorar la calidad de vida de los afectados. Se presenta a 2 miembros de una familia (la madre y un hijo), atendidos en la consulta de genética clínica de la provincia de Holguín, con características clínicas que se correspondían con dicho síndrome, para compartir estos hallazgos con la comunidad médica en general, pues llamó la atención que estuvieran afectados 3 personas de una misma familia, aunque solo se describe a 2 de ellos

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described

Presentación de dos hermanos con síndrome de Wolfram / Presentation of Two Brothers with Wolfram Syndrome

El síndrome de Wolfram es una enfermedad neurodegenerativa progresiva con transmisión autosómica recesiva, caracterizada por la presencia de diabetes mellitus y atrofia óptica, también pueden estar presentes la diabetes insípida y la disacusia neurosensorial explicando el acrónimo DIDMOAD (diabetes insípida, diabetes mellitus, atrofia óptica y sordera). Cursa con diversas manifestaciones clínicas, además, como la dilatación de las vías urinarias, alteraciones neurológicas, alteraciones psiquiátricas y alteraciones gonadales. La diabetes mellitus, de aparición precoz y con poca prevalencia de cetoacidosis y la atrofia óptica se consideran criterios diagnósticos fundamentales en este síndrome. Se presenta en la infancia, lo que da lugar a una mayor dificultad diagnóstica y terapéutica, con una elevada morbimortalidad y deterioro de la calidad de vida por las afectaciones neurológicas y urológicas. Se presentaron dos pacientes, hermanos, con síndrome de Wolfram y sus manifestaciones oftalmológicas, cuyo diagnóstico se realizó por la presencia de diabetes mellitus en la primera década de la vida y atrofia óptica bilateral, ahora con 18 y 11 años de edad, respectivamente.

Wolfram syndrome is a progressive neurodegenerative disease with an autosomal recessive inheritance, characterized by the presence of diabetes mellitus and optic atrophy, diabetes insipidus and neurosensorial deafness can also be present, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).The syndrome shows some various clinical manifestations such as urinary tract dilation and, neurological, psychiatric and gonadal disorders.The early onset diabetes mellitus, a low prevalence of ketoacidosis and an optic atrophy are considered key diagnostic criteria in this syndrome. It occurs during childhood what leads to a bigger diagnostic and therapeutic difficulty, with an elevated morbi-mortality and deterioration of the quality of life due to the neurological and urological affectations. Two brother patients with Wolfram syndrome and his ophthalmological manifestations were reported, whose diagnosis was made by the presence of diabetes mellitus in the first decade of life and bilateral optic atrophy, now they are 18 and 11 years old.

Presentación de dos hermanos con síndrome de Wolfram / Presentation of Two Brothers with Wolfram Syndrome

El síndrome de Wolfram es una enfermedad neurodegenerativa progresiva con transmisión autosómica recesiva, caracterizada por la presencia de diabetes mellitus y atrofia óptica, también pueden estar presentes la diabetes insípida y la disacusia neurosensorial explicando el acrónimo DIDMOAD (diabetes insípida, diabetes mellitus, atrofia óptica y sordera). Cursa con diversas manifestaciones clínicas, además, como la dilatación de las vías urinarias, alteraciones neurológicas, alteraciones psiquiátricas y alteraciones gonadales. La diabetes mellitus, de aparición precoz y con poca prevalencia de cetoacidosis y la atrofia óptica se consideran criterios diagnósticos fundamentales en este síndrome. Se presenta en la infancia, lo que da lugar a una mayor dificultad diagnóstica y terapéutica, con una elevada morbimortalidad y deterioro de la calidad de vida por las afectaciones neurológicas y urológicas. Se presentaron dos pacientes, hermanos, con síndrome de Wolfram y sus manifestaciones oftalmológicas, cuyo diagnóstico se realizó por la presencia de diabetes mellitus en la primera década de la vida y atrofia óptica bilateral, ahora con 18 y 11 años de edad, respectivamente.(AU)

Wolfram syndrome is a progressive neurodegenerative disease with an autosomal recessive inheritance, characterized by the presence of diabetes mellitus and optic atrophy, diabetes insipidus and neurosensorial deafness can also be present, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).The syndrome shows some various clinical manifestations such as urinary tract dilation and, neurological, psychiatric and gonadal disorders.The early onset diabetes mellitus, a low prevalence of ketoacidosis and an optic atrophy are considered key diagnostic criteria in this syndrome. It occurs during childhood what leads to a bigger diagnostic and therapeutic difficulty, with an elevated morbi-mortality and deterioration of the quality of life due to the neurological and urological affectations. Two brother patients with Wolfram syndrome and his ophthalmological manifestations were reported, whose diagnosis was made by the presence of diabetes mellitus in the first decade of life and bilateral optic atrophy, now they are 18 and 11 years old.