Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death.

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK) deficiency (MIM 261680, EC 4.1.1.32, encoded by PCK1) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. We report on a previously healthy 3-year-old boy who was initially admitted under the suspicion of a febrile seizure during an upper airway infection. Diagnostic workup revealed hypoglycemia as well as a cerebral edema and ruled out an infection. After a complicated course with difficult to treat symptomatic seizures, the child died on the 5th day of admission due to progressive cerebral edema. The metabolic screening showed elevated urinary lactate and Krebs cycle intermediates in line with a primary or secondary energy deficit. Due to the unclear and fatal course, trio exome sequencing was initiated postmortem ("molecular autopsy") and revealed the diagnosis of cytosolic PEPCK deficiency based on the compound heterozygosity of a known pathogenic (c.925G > A, p.(Gly309Arg)) and a previously unreported (c.724G > A, p.(Gly242Arg)) variant in PCK1 (NM_002591.3). Sanger sequencing ruled out the disease and carrier status in three older brothers. Molecular autopsy was performed due to the unclear and fatal course. The diagnosis of a cytosolic PEPCK deficiency not only helped the family to deal with the grief, but especially took away the fear that the siblings could be affected by an unknown disease in the same manner. In addition, this case increases the genetic and phenotypic spectrum of cytosolic PEPCK deficiency.

Vagal Asystoles in a Boy With Prader-Willi Syndrome.

Prader-Willi syndrome (PWS) is a genetic hormonal disorder of the hypothalamic-pituitary-axis resulting in mental retardation, muscle hypotonia, hypogonadism, and hyperphagia leading to significant obesity. Cardiovascular morbidity and mortality in adult patients with PWS is higher than in healthy controls and mainly secondary to massive obesity. In childhood, mortality may result from respiratory or gastrointestinal illnesses. We present a case of a 10-year-old boy with PWS who experienced recurrent and asymptomatic episodes of sinus pauses caused by the ingestion of large gulps of apple juice, which could be provoked and reproduced. The asystoles could not be provoked by any other vagal maneuvers and an initial diagnostic workup revealed no indication for structural heart disease. Because of the asymptomatic character of the asystoles, no treatment was initially provided. When he re-presented 3 months later after a clinically relevant syncope at school, pacemaker therapy was initiated, and he has demonstrated no subsequent sinus pauses or syncopes. Regarding the rising awareness of subtle cardiac alterations including autonomic dysfunction and electrocardiogram changes in young patients with PWS and especially the occurrence of unexplained sudden deaths in childhood that may be precipitated by arrhythmia, we suggest that the utility of periodic screening for arrhythmia risk should be evaluated in children with PWS.

Association of sex with the clinical course and outcome of internal emergency department patients: a secondary data analysis.

BACKGROUND AND IMPORTANCE: Differences between men and women visiting the emergency department (ED) with nonsurgical complaints have mostly been investigated in small, diagnosis-based subpopulations. OBJECTIVE: This study investigated sex-differences in an unselected cohort of nonsurgical ED patients. DESIGN: Secondary data of all patients attending two EDs of the Charité, Universitätsmedizin Berlin collected in the framework of their medical evaluation was reviewed. SETTINGS AND PARTICIPANTS: Within a 1-year-period all 34 333 adult internal patients presenting to one of the two EDs were included and analysed. OUTCOMES MEASURE AND ANALYSES: Sex-stratified descriptive analysis of the in-hospital course and outcome of the ED patients was performed as primary endpoint. Admission data, ED processes and diagnoses were analyzed as secondary endpoints. MAIN RESULTS: A total of 51.2% of all patients were women. Women were slightly younger (median 56 years vs. men 58 years; P < 0.001) and presented more frequently with abdominal pain and headache. Men rather showed chest pain and dyspnea. Accordingly, women had more gastroenterological diseases; men were more often diagnosed with cardiological and pneumological diseases. Women were less frequently admitted for inpatient treatment [35.3 vs. men 43.7%; difference 8.4 percentage points (95% confidence interval (CI), 7.3-9.4)] and intensive care treatment [5.8 vs. men 9.0%; difference 3.2 percentage points (95% CI, 2.7-3.8)]. Inpatient-mortality did not show significant sex differences [4.6 women vs. 4.8% men; difference 0.2 percentage points (95% CI, -0.6 to 0.8)]. CONCLUSIONS: There are significant differences in characteristics, symptoms, diagnoses and clinical course between men and women. Further investigations could identify causes and measures like sex-specific algorithms for ED-work processes.

Takotsubo cardiomyopathy in a 12-year-old boy caused by acute brainstem bleeding-a case report.

Takotsubo cardiomyopathy is characterized by acute and reversible severe left ventricular dysfunction due to intensive emotional or physical stress followed by catecholamine excess. Traditionally it is most common in postmenopausal women, whereas only few cases have been described in childhood. In our case a previously well 12-year-old boy presented with severe cardiogenic shock due to dramatically impaired left ventricular function requiring significant inotropic support and invasive mechanical ventilation. Interestingly, cardiac catheterization, myocardial tissue histology and biochemical laboratory tests did not yield a definitive diagnosis. As his cardiac function improved gradually within several days and deep sedation could be weaned, he was then found to suffer from hemiparesis and absence of protective airway reflexes on neurological examination during the weaning process. Subsequent brain imaging studies revealed a brainstem bleeding due to a fistulous arteriovenous malformation (AVM) appearing to be only a few days old. After endovascular coiling and subsequent microsurgical resection of the malformation, he recovered completely. Our present case demonstrated, that brainstem bleeding could precipitate Takotsubo cardiomyopathy manifesting hemodynamic collapse. Severe ventricular impairment has been described in many adults with subarachnoid hemorrhage; however, this condition is extremely rare among children. When severe cardiogenic shock is diagnosed, precipitating factors such as intracranial processes should be ruled out on a regular basis.

[Situation analysis and proposals for improving primary care nursing in Mallorca: study with focal groups]. / Análisis de situación y propuestas de mejora en enfermería de atención primaria de Mallorca: un estudio con grupos focales.

BACKGROUND: The primary care reform (PCR) has give rise to some major changes in the nursing profession. The objectives of this study are to analyze the achievements made by the nurses, to identify the problems they currently have in primary care and to suggest some lines along which work can be done for the future. METHOD: Qualitative research (focal group method). Eight groups were made segmented by occupational category and the position held. Scope of the analysis: the role of nurses, services supply and organization, participation and management, marketing and training. RESULTS: In the opinion of those surveyed, the PCR has entailed a broadening of the nurses' skills, although their role is still well-defined. The nurses are of the opinion that there is no listing of services inherent to nursing despite the leading role they obviously play in home care and health education. The need has been identified of assess the existing health programs in terms of results. Concerning to health services organization, main problems were related to the lack of adapting staffing in keeping with the rise in population and difficulties of internal communications within the health professional teams and the very small degree to which nursing services are disseminated. The need is felt of broadening pre-diploma training with regard to some subjects (health education) and skills (teamwork). CONCLUSIONS: Although the PCR has meant improvements for the nurses, solutions have as yet to have been provided to some aspects (including defining a listing of services, adapting staffing, internal communications, marketing, training) and given the opportunity the transferring of authorities over health care entail, further progress must be made toward innovative proposals to improve the health services.

[Dietary habits and physical activity in a secondary school in the Balearic islands]. / Habitos de alimentación y actividad física en un instituto de Educación Secundaria secundaria de Baleares.

OBJECTIVE: To evaluate the changes in dietary habits and physical activity, as well as the prevalence of obesity and overweight that have occurred in a cohort of 1st and 4th year secondary school pupils after non-structured health education activities. METHOD: A descriptive, longitudinal study, in which anthropometric variables, dietary habits, leisure and physical activity were collected in the 1st year secondary school pupils (n=61), and they were measured again when they were in the 4th year. The differences between the two school years were analysed using the Mc Nemar-Bowker Test. During the period of the study educational sessions were given on healthy eating and physical activity. RESULTS: The prevalence of overweight decreased significantly (from 14.8% to 3.7%) and the level of physical activity has increased. No statistical differences were detected in the quality of breakfast or in the quality of the Mediterranean diet. CONCLUSIONS: Some of the aspects studied have improved without being able to attribute this improvement to the educational sessions given. To determine and analyse the healthy living habits of adolescents would enable us to plan realistic interventions, adapted to the particular environment. They should be structured and continuous over time and approach areas of knowledge, skills and emotions, and directed, not only at the young people, but also their families, the internal environment of the educational centre. There should be coordination of community resources in order to make a coordinated approach.

[To establish nurse research priorities in Spain: Delphi study]. / Establecimiento de prioridades de investigación en enfermería en España: estudio Delphi.

OBJECTIVE: To identify nursing research priorities in Spain as suggested by nurses and service users. METHOD: A Modified Delphi technique was used. The first round started off with a 24-item document for which consensus had been previously achieved. Experts participating in this modified (two rounds) Delphi technique were: nursing managers (community and hospital care settings), nursing school directors, scientific nursing association representatives, nursing researchers attending the National Nursing Research Conference, and service users. RESULTS: Main priorities identified for nursing research were: 1) evaluating the effectiveness of nursing interventions, 2) identifying strategies for health promotion empowering service users, 3) developing evidence-based care through implementing and evaluating results, and 4) evaluating the quality of nursing care. CONCLUSIONS: Results may help research managers and administrators identify and develop nursing research promotion strategies as well as more strongly sustained funding policies and decisions.