Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

BACKGROUND: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change performance. METHODS: The Swiss CF-NBS is based on an IRT-DNA algorithm with a second IRT (IRT-2) as safety net. We analysed data from 2011 to 2021, covering 959,006 IRT-1 analyses and 282 children with CF. We studied performance based on European Cystic Fibrosis Society (ECFS) standards including sensitivity, specificity, positive predictive value (PPV), false negative rate, and second heel-prick tests; identified optimal IRT cut-offs using receiver operating characteristics (ROC) curves; and calculated performance for simulated algorithms with different cut-offs for IRT-1, IRT-2, and safety net. RESULTS: The Swiss CF-NBS showed excellent sensitivity (96 %, 10 false negative cases) but moderate PPV (25 %). Optimal IRT-1 and IRT-2 cut-offs were identified at 2.7 (>99th percentile) and 5.9 (>99.8th percentile) z-scores, respectively. Analysis of simulated algorithms showed that removing the safety net from the current algorithm could increase PPV to 30 % and eliminate >200 second heel-prick tests per year, while keeping sensitivity at 95 %. CONCLUSION: The Swiss CF-NBS program performed well over 11 years but did not achieve the ECFS standards for PPV (≥30 %). Modifying or removing the safety net could improve PPV and reduce unnecessary follow-up tests while maintaining the ECFS standards for sensitivity.

Cardiac tamponade: an unusual complication of pericardial cyst.

Pericardial cysts are not common and rarely cause symptoms. We report a unique case of a 15-year-old male patient with cardiac tamponade clinically diagnosed who was referred for echocardiography. Transthoracic echocardiography revealed, in addition to a large pericardial effusion associated with echocardiographic signs of cardiac tamponade, an 8 x 5 cm echofree image suggesting a pericardial cyst adjacent to the right atrium. Immediately after pericardiocentesis, yielding a serosanguinous liquid, the patient showed striking clinical improvement and echocardiography demonstrated minimal pericardial effusion with persistence of the cystic image. At surgery a pericardial cyst containing a sanguinous fluid was found and the pathologic findings were consistent with hematic pericardial cyst. Thus echocardiography played a fundamental role for the diagnosis and treatment of the rare complication of a pericardial cyst documented in this patient.

Severe scorpion envenomation in Brazil. Clinical, laboratory and anatomopathological aspects.

Scorpion stings in Brazil are important not only because of their incidence but also for their potential ability to induce severe, and often fatal, clinical situations, especially among children. In this report we present the clinical and laboratory data of 4 patients victims of scorpion stings by T. serrulatus, who developed heart failure and pulmonary edema, with 3 of them dying within 24 hours of the sting. Anatomopathologic study of these patients revealed diffuse areas of myocardiocytolysis in addition to pulmonary edema. The surviving child presented enzymatic, electrocardiographic and echocardiographic changes compatible with severe cardiac involvement, which were reversed within 5 days. These findings reinforce the need for continuous monitoring of patients with severe scorpion envenoming during the hours immediately following the sting.

'Reversible cardiomyopathy' in patients with severe scorpion envenoming by Tityus serrulatus: evolution of enzymatic, electrocardiographic and echocardiographic alterations.

Severe scorpion envenoming is characterized by cardiocirculatory failure which may lead to pulmonary oedema. These are the major causes of death among victims of scorpion stings. Involvement of the heart has been attributed to the massive release of catecholamines and/or to a direct toxic effect of the venom on cardiac fibres, while pulmonary oedema has been considered to be of cardiogenic or non-cardiogenic origin. We present here the clinical, laboratory, electrocardiographic and echocardiographic data of 12 victims of severe Tityus serrulatus stings. These patients had important echocardiographic evidence of moderate to severe left ventricular (LV) dysfunction with diffuse LV hypokinesia and reduced ejection fraction. Seven developed pulmonary oedema. The clinical course of all the patients was satisfactory and the laboratory, electrocardiographic and echocardiographic changes returned to normal, usually within 1 week of the sting. The important alterations detected by echocardiography as early as during the 1st few hours after the sting, taken together with the enzymatic and electrocardiographic data, confirm that LV dysfunction is responsible, either alone or in combination with other factors, for the cardiac insufficiency and pulmonary oedema encountered in scorpion envenoming.