The experience of living with a chronic disease in pediatrics from the mothers' narratives: The Clinical Interview on Parental Sense of Grip on the Disease.

The Clinical Interview on the Sense of Grip on Chronic Disease has been administered to 68 mothers of children affected by Hereditary Angioedema (C1-Inh HAE), Type 1 Diabetes (T1D), Juvenile Rheumatoid Arthritis (JRA). The objectives are to detect general features of the experience of parenting children with chronic illness as well as the specificities of this experience related to the different conditions. Four Profiles of Sense of Grip were identified: Adempitive, Controlling, Reactive, Dynamic. The Sense of Grip Interview is an effective clinical tool for understanding the characteristics of the disease in daily life, which can help clinicians to encourage family adjustment to disease.

Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study.

BACKGROUND: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity. Data from children with C1-INH-HAE (n = 28) from four reference centers in Italy were compared with data from children with type 1 diabetes (T1D; n = 23) and rheumatoid arthritis (RA; n = 25). Alexithymia was assessed using the Alexithymia Questionnaire for Children scale; perceived stress was assessed using the Coddington Life Event Scale for Children (CLES-C). RESULTS: Mean age (standard deviation [SD]) in the C1-INH-HAE, T1D, and RA groups was 11.8 (3.3), 11.7 (2.9), and 11.1 (2.6) years, respectively. Mean C1-INH-HAE severity score was 5.9 (2.1), indicating moderate disease. Alexithymia scores were similar among disease groups and suggestive of difficulties in identifying and describing emotions; CLES-C scores tended to be worse in C1-INH-HAE children. C1-INH-HAE severity was found to correlate significantly and positively with alexithymia (p = 0.046), but not with perceived stress. Alexithymia correlated positively with perceived stress. CONCLUSIONS: Alexithymia is common in children with chronic diseases. In C1-INH-HAE, it may result in increased perceived stress and act as a trigger of edema attacks. Comprehensive management of C1-INH-HAE children should consider psychological factors.

Exclusión renal por endometriosis profunda ureteral: a propósito de un caso / Renal exclusion due to deep infiltrating ureteral endometriosis: a case report

INTRODUCCIÓN: La endometriosis ureteral es una afección rara que afecta al 0.01-1,7% de las mujeres con endometriosis. Hasta un 30% cursa de forma asintomática y un 11,5-14,7% pueden evolucionar con falla renal. La falta de diagnóstico de la enfermedad puede terminar en una uropatía obstructiva y falla renal irreversible. Se presenta el caso de una paciente con afectación grave de la función renal secundaria a endometriosis profunda con compromiso ureteral. CASO CLÍNICO: Mujer de 35 años con endometriosis que consultó por exacerbación de los síntomas. En su estudio destaca, en la resonancia magnética, el hallazgo de endometriosis pélvica profunda y compromiso endometriósico intrínseco del uréter distal derecho, provocando una acentuada hidroureteronefrosis. El cintigrama renal demuestra acentuado compromiso de la función renal derecha, con una función relativa del 7%. Se realizaron nefrectomía total derecha y resección de enfermedad pélvica profunda laparoscópica, sin incidentes. CONCLUSIONES: La endometriosis ureteral representa un desafío diagnóstico y terapéutico. El manejo multidisciplinario entre radiólogos, ginecólogos y urólogos, mediante el diseño de una estrategia quirúrgica individualizada, es imprescindible para definir el tratamiento óptimo de estas pacientes.

INTRODUCTION: Ureteral endometriosis is a rare entity that affects 0.01-1,7% of women with endometriosis. Up to 30% of the patients are asymptomatic and 11.5-14.7% will develop renal failure. Misdiagnosis can lead to obstructive uropathy and permanent renal failure. We present the case of a patient with severe compromise of renal function secondary to deep infiltrating endometriosis with ureteral involvement. CASE REPORT: A 35-year-old woman with endometriosis presented with exacerbation of symptoms. Magnetic resonance showed deep pelvic endometriosis and intrinsic endometriotic involvement of the right distal ureter, causing a marked hydroureteronephrosis. Renal scintigram showed a severe compromise of the right renal function, with a relative function of 7%. Through laparoscopy a total right nephrectomy and resection of deep infiltrating endometriosis was performed. The patient had a satisfactory recovery in the postoperative period. CONCLUSIONS: Ureteral endometriosis presents a diagnostic and therapeutical challenge. Joint multidisciplinary management between radiologists, gynecologists and urologists through the design of an individualized surgical strategy is essential to define the optimal treatment for these patients.

Mielinosis central pontina. A propósito de un caso clínico / Pontine central myelinosis. Case report

La mielinosis central pontima (MCP) es un sindrome neurológico que afecta a adultos jóvenes y de mediana edad y es habitualmente provocado por una corrección de la hiponatremia efectuada en forma demasiado rápida. La evolución clínica varía notablemente desde recuperación casi total a secuelas nerológicas severas e incluso la muerte. Se decribe un caso de mielinosis central pontina en un paciente con hiponatremia y alcoholista, que se presentó con un sindrome cerebeloso sin signos piramidales y en el que la velocidad de corrección del sodio sérico se realizó dentro de los límites recomendados. Se hace énfasis en que para evitar el desarrollo de la mielinosis central pontina, la corrección del sodio sérico en casos de hiponatremia no debe ser más rápida de 12mEg/L en 24 hs y no mayor de 0.5 a 1 m Eg/L/hora.