Distrofia miotónica tipo 1: 13 años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo / Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation

Introducción: Se desconoce la incidencia de la distrofia miotónica tipo 1 (DM1), enfermedad con gran variedad fenotípica, en nuestra región. El objetivo de nuestro trabajo es estimar la incidencia de DM1 en nuestro centro (referencia en Aragón) e identificar las características propias de nuestra población (correlación genotipo-fenotipo). Métodos: Estudio descriptivo retrospectivo de 459 pacientes clasificados según número de repeticiones CTG en: normal (5-35), premutado (36-50), protomutado (51-80), pequeñas expansiones (81-150), intermedias (151-1.000) y grandes (> 1.000). Además, según el fenotipo mostrado, se categorizaron como: no afectos (5-50 CTG), forma leve o asintomática (51-150 CTG), clásica (151-1.000 CTG) y severa (> 1.000 CTG). Resultados: La incidencia de DM1 fue de 20,61 (IC 95%: 19,59-21,63) casos por millón de individuos-año. Se evidenció una correlación inversa entre el número de CTG y la edad al diagnóstico genético (ρ = −0,547; IC 95%: −0,610 a −0,375; p < 0,001). El CTG5 fue el alelo polimórfico más frecuente en sanos. Del total de afectos, el 28,3% presentaron la forma leve o asintomática, el 59,1% la forma clásica y el 12,6% la forma severa. El 35,1% presentaron herencia materna, el 59,4% herencia paterna y el 5,5% herencia incierta. En las formas leves la calvicie frontal en varones fue el rasgo fenotípico más prevalente, junto con miotonía y cataratas, mientras que en la clásica predominó la ptosis palpebral, la debilidad facial, las alteraciones en la voz y la pronunciación, la miotonía y la sensación de cansancio/somnolencia. Conclusiones: La incidencia de DM1 es relevante en Aragón. La revisión multidisciplinar del fenotipo de pacientes con DM1 es clave para un diagnóstico precoz y medicina personalizada.(AU)

Introduction: The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation). Methods: Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5-35), premutation (36-50), protomutation (51-80), small expansions (81-150), intermediate expansions (151-1000), and large expansions (> 1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5-50 CTG repeats), mild form or asymptomatic (51-150), classical form (151-1000), and severe form (> 1000). Results: The incidence of DM1 was 20.61 cases per million person-years (95% CI: 19.59-21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ = −0.547; 95% CI: −0.610 to −0.375; P < .001). CTG5 was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent. Conclusions: The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.(AU)

Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation.

INTRODUCTION: The incidence of myotonic dystrophy type 1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation). METHODS: Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5-35), premutation (36-50), protomutation (51-80), small expansions (81-150), intermediate expansions (151-1000), and large expansions (> 1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5-50 CTG repeats), mild form or asymptomatic (51-150), classical form (151-1000), and severe form (> 1000). RESULTS: The incidence of DM1 was 20.61 cases per million person-years (95% CI, 19.59-21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ = -0.547; 95% CI, -0.610 to -0.375; P < .001). CTG5 was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent. CONCLUSIONS: The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.

Myotonic dystrophy type1: 13years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation. / Distrofia miotónica tipo1: 13años de experiencia en un hospital terciario. Estudio clínico y epidemiológico. Correlación genotipo-fenotipo.

INTRODUCTION: The incidence of myotonic dystrophy type1 (DM1), a disease with great phenotypic variety, in our region is unknown. This study aims to estimate the incidence of DM1 at our hospital (a reference centre in Aragon, Spain) and to identify the characteristics of our population (genotype-phenotype correlation). METHODS: Retrospective, descriptive study of 459 patients classified according to the number of CTG repeats, as follows: normal (5-35), premutation (36-50), protomutation (51-80), small expansions (81-150), intermediate expansions (151-1000), and large expansions (>1000). Furthermore, according to clinical phenotype, patients were categorised as unaffected (5-50 CTG repeats), mild form or asymptomatic (51-150), classical form (151-1000), and severe form (>1000). RESULTS: The incidence of DM1 was 20.61 cases per million person-years (95%CI: 19.59-21.63). An inverse correlation was observed between the number of CTG repeats and the age at genetic diagnosis (ρ=-0.547; 95%CI: -0.610 to -0.375; P<.001). CTG5 was the most frequent polymorphic allele in healthy individuals. Of all patients with DM1, 28.3% presented the mild or asymptomatic form, 59.1% the classical form, and 12.6% the severe form. Inheritance was maternal in 35.1% of cases, paternal in 59.4%, and uncertain in 5.5%. In mild forms, frontal balding in men was the most prevalent phenotypic trait, as well as myotonia and cataracts, while in the classical form, ptosis, facial weakness, voice and pronunciation alterations, myotonia, and fatigue/sleepiness were most frequent. CONCLUSIONS: The incidence of DM1 in Aragon is significant. Multidisciplinary study of the phenotype of patients with DM1 is key to early diagnosis and personalised management.

Results of kidney transplantation from deceased donors with acute kidney injury.

BACKGROUND: Different strategies have been initiated to shorten the waiting list time to receive a kidney transplant. Donors with acute kidney injury (AKI) may be a new option. METHODS: Fifty-nine patients received a kidney transplant from an AKI donor defined as having serum creatinine >2 mg/dL at the time of organ procurement. They were compared with a transplant group with normal kidney function defined as creatinine <1.5 mg/dL organ procurement in the same time period, paired by donor and recipient age (control group). Initial evolution, at 1 year, and at the end of the follow-up were evaluated. RESULTS: The AKI donor group had greater delayed graft function (68% versus 36%, P < .01). Graft and recipient survival were similar in both groups at 1 year (92% versus 88%, P = NS; 97% versus 98%, P = NS) and at the end of follow-up (66% versus 66%, P = NS; 90% versus 88%, P = NS). Serum creatinine at 1 year and at the end of the follow-up did not show any differences (1.4 ± 0.5 versus 1.4 ± 0.7 mg/dL, P = NS; 1.4 ± 0.5 versus 1.6 ± 0.9 mg/dL, P = NS). CONCLUSIONS: The transplants from donors with AKI showed greater incidence of delayed graft function, but this did not affect the short- or long-term prognosis of the graft or recipient. This type of donor may be a source of acceptable kidneys.

[Perioperative morbidity and mortality in surgery for dissecting aneurysm of the ascending aorta]. / Morbimortalidad perioperatoria de la cirugía de la disección de aorta ascendente.

OBJECTIVE: To describe complications and mortality in patients diagnosed of Stanford's type A (Daily) dissection of the ascending aorta requiring circulatory arrest for emergency placement of an aortic graft. PATIENTS AND METHODS: Retrospective study of 21 patients treated between December 1992 and November 1997. RESULTS: Hypertension was the disease most often associated with the diagnosis (in 8 of the 21 patients). Preoperative mortality was 9.5% (2 of the 21 patients), no deaths occurred in the operating room and postoperative mortality was 15.8% (3 of the 19 patients who underwent surgery). Durations in mean time (SD) in minutes were as follows: anesthesia-surgery 437.9 (92), extracorporeal circulation 192.5 (47), aortic clamping 82.6 (20), circulatory arrest 30.5 (8). Retrograde cerebral circulation was carried out during circulatory arrest in all cases. Mean temperature during this period was 14.9 degrees C. During the postoperative period we recorded three permanent neurological complications, six cases of acute renal failure and seven respiratory complications, specifically one instance of adult respiratory distress syndrome and six of pneumonia, the most common. Consumption of blood products was high, with great interindividual variation. CONCLUSION: Anesthesia for and recovery from surgery for acute aortic dissection is complex and associated with a high rate of postoperative complication and high consumption of blood products.

[Oxygen consumption during anaphylactic shock]. / Consumo de oxígeno durante un shock anafiláctico.

We report the case of a 49-year-old man who suffered anaphylactic/anaphylactoid shock within the first few minutes of reaching the recovery room after unremarkable coronary surgery and revascularization. Adequate monitoring permitted differential diagnosis and establishment of specific treatment Monitoring also allowed us to document hemodynamic changes and oxygen consumption during this instance of anaphylactic/anaphylactoid shock. Anaphylactic/anaphylactoid shock caused significant vasoparalysis with decreases in arterial pressures, reduction of oxygen consumption and discrete changes in oxygen exchange. The reposition of volume and administration of adrenaline were insufficient. Appropriate management of noradrenaline perfusion, which was made possible by complete monitoring, was essential for reestablishing normal hemodynamic and oximetric readings and preventing myocardial ischemia.