Neonatal hypotonia: is it a diagnostic challenge? / Hipotonia neonatal: entraña un diagnostico dificil?

INTRODUCTION: Hypotonia is a frequent sign of disease in newborns. However, it's a nonspecific clinical finding: may be the presentation form of a systemic or neurological disease. AIMS: To study the main causes of neonatal hypotonia as well as to evaluate the diagnostic accuracy of the anamnesis and physical examination of the hypotonic newborn. PATIENTS AND METHODS: A 22-year retrospective study of hypotonic neonates admitted to the Neonatal Intensive Care Unit was conducted. It was performed an initial blind classification of hypotonia's type (central-CH, peripheral-PH or undetermined hypotonia) based on the clinical history and the recorded data of physical examination. RESULTS: 91 infants were included. 42 (46.2%) had prenatal history abnormalities: polyhydramnios (28.6%), intrauterine growth restriction (21.4%) and pelvic presentation (19.0%). 53 (58.2%) required resuscitation at birth. The main associated symptoms were respiratory distress (65.9%), feeding difficulties (36.5%) and decreased spontaneous movements (22.4%). The final diagnosis was reached in 64 newborns (70.3%): 81.3% with CH, 18.7% with PH. The positive predictive value of the initial classification was 97.9% in CH and 66.7% in PH group. The mortality rate was 8.8% and it was higher in PH group (58.3% vs 1.3%). CONCLUSIONS: Neonatal hypotonia can be associated to an extensive list of disorders. A detailed clinical history associated to a careful neurological evaluation present a high diagnostic predictive value that should guide the etiological investigation.

TITLE: Hipotonia neonatal: entraña un diagnostico dificil?Introduccion. La hipotonia constituye un signo habitual de enfermedad en el neonato. Ahora bien, se trata de un signo inespecifico: puede ser la manifestacion inicial de una enfermedad neurologica o multisistemica. Objetivos. Estudiar las principales causas de la hipotonia neonatal y evaluar la exactitud diagnostica de la anamnesis y la exploracion fisica en el neonato hipotonico. Pacientes y metodos. Estudio retrospectivo de 22 años con recien nacidos afectados por hipotonia e ingresados en la unidad de cuidados intensivos neonatales. A partir de la anamnesis y de los datos recabados durante la exploracion fisica, se hizo una clasificacion inicial en condiciones de enmascaramiento del tipo de hipotonia: central, periferica o indeterminada. Resultados. El numero de pacientes estudiados ascendio a 91. De ellos, 42 (46,2%) presentaban antecedentes de alteraciones prenatales: polihidramnios (28,6%), retraso del crecimiento intrauterino (21,4%) y presentacion de nalgas (19%). Cincuenta y tres (58,2%) habian precisado reanimacion al nacer. Los principales sintomas asociados consistieron en disnea (65,9%), dificultades de alimentacion (36,5%) y escasez de movimientos espontaneos (22,4%). El diagnostico definitivo se obtuvo en 64 neonatos (70,3%): el 81,3% mostraba hipotonia central, y el 18,7%, hipotonia periferica. El valor predictivo positivo de la clasificacion inicial alcanzo el 97,9% en la hipotonia central y el 66,7% en la hipotonia periferica. La tasa de mortalidad fue del 8,8%, y resulto superior en el grupo de hipotonia periferica (58,3% frente a 1,3%). Conclusiones. La hipotonia neonatal aparece vinculada con una larga lista de trastornos. Una anamnesis minuciosa y una valoracion neurologica cuidadosa brindan un alto valor predictivo diagnostico que debe orientar el estudio etiologico.

Pain Control, Glucose Control, and Quality of Life in Patients With Chronic Pancreatitis After Total Pancreatectomy With Islet Autotransplantation: A Preliminary Report.

BACKGROUND: Total pancreatectomy (TP) is offered as a last treatment option for pain relief in patients with chronic pancreatitis. Concurrent islets autotransplantation (TP-IAT) may improve glucose control. METHODS: We analyzed results in 20 recent patients who underwent TP-IAT at The University of Chicago. The median observation period was 28 months (2-38). Data were collected prospectively then analyzed retrospectively. RESULTS: The number of patients requiring opioids daily for pain control decreased from 16 (80%) prior to surgery to 2 (13%) 1 year after, with only 1 (6.5%) patient experiencing persistent phantom pancreatic pain. Opioid requirements decreased from a median 56.3 (0-240) morphine equivalent dose to 5 (0-130) on day 75 and to 0 (0-30) at 1-year follow up. Five patients (25%) completely stopped insulin support prior to day 75 while maintaining hemoglobin A1c of 5.9% (5-6.3). Eight (53%) patients were insulin free at 1 year with A1c of 6% (5.5-6.8) and a similar rate persisted in next 2 years. For the remaining patients, the more islet function that was preserved, the less insulin they required and A1c was closer to optimal. Quality of Life (QoL) measured by SF36 Physical (PCS) and Mental (MCS) Component Score improved on day 75 (P < .001) and maintained improvement later on. Both PCS and MCS improved regardless of whether patient requires insulin support or not. CONCLUSIONS: Improvements of QoL with pain resolution and good glucose control can be achieved after TP-IAT in properly selected patients with CP and intractable pain, regardless of patient insulin support status.

External Validation of the Newly Developed BETA-2 Scoring System for Pancreatic Islet Graft Function Assessment.

BACKGROUND: BETA-2 score using a single fasting blood sample was developed to estimate beta-cell function after islet transplantation (ITx) and was validated internally by a high ITx volume center (Edmonton). The goal was to validate BETA-2 externally, in our center. METHODS: Areas under receiver operating characteristic curves (AUROCs) were obtained to see if beta score or BETA-2 would better detect insulin independence and glucose intolerance. RESULTS: We analyzed values from 48 mixed meal tolerance tests (MMTTs) in 4 ITx recipients with a long-term follow-up to 140 months (LT group) and from 54 MMTTs in 13 short-term group patients (ST group). AUROC for no need for insulin support was 0.776 (95% confidence interval [CI] 0.539-1, P = .02) and 0.922 (95% CI 0.848-0.996, P < .001) for beta score and 0.79 (95% CI 0.596-0.983, P = .003) and 0.941 (95% CI 0.86-1, P < .001) for BETA-2, in LT and ST groups, respectively, and did not differ significantly. In LT group BETA-2 score ≥ 13.03 predicted no need for insulin supplementation with sensitivity of 98%, specificity of 50%, positive predictive value (PPV) of 93%, and negative predictive value (NPV) of 75%. In ST group the optimal cutoff was ≥13.63 with sensitivity of 92% and specificity, PPV, and NPV 82% to 95%. For the detection of glucose intolerance BETA-2 cutoffs were <19.43 in LT group and <17.23 in ST group with sensitivity > 76% and specificity, PPV, and NPV > 80% in both groups. CONCLUSION: BETA-2 score was successfully validated externally and is a practical tool allowing for frequent and reliable assessments of islet graft function based on a single fasting blood sample.

[Extra-adrenal pheochromocytoma simulating acute myocardial infarction]. / Feocromocitoma extra-adrenal mimetizando enfarte agudo do miocárdio.

The authors present the case of a 65 year-old female who was admitted to the emergency room with epigastric pain, headache, palpitations, nausea, vomiting and sweating. The laboratory tests performed showed elevation of CK and CK-MB and the ECG presented sinus tachycardia. T-wave inversion and prolonged QT interval. The echocardiogram was normal. The patient was admitted to the ICU and during the standard myocardial infarction treatment (including beta-blocker) a wide range of the arterial pressure (230/140 to 70/40 mm Hg) was registered. In view of these new data, the hypothesis of pheochromocytoma and catecholamine induced myocarditis was suggested and later confirmed by high levels of plasmatic and urinary catecholamines. The abdominal echography. CT and MRI showed a large retroperitonal and para-aortic mass. The administration of phenoxybenzamine (30 mg/day) led to the normalization of the ECG and arterial pressure and the respective clinical improvement. The anatomopathological exam, after surgical removal, confirmed our hypothesis. Sixteen months after the surgical procedure the patient is assymptomatic, with normal arterial pressure and normal levels of plasmatic and urinary catecholamines.

[Pulmonary thromboembolism in a female with resistance to activated protein C]. / Tromboembolismo pulmonar em mulher com resistência à proteína C activada.

Primary or acquired hypercoagulable states favour thrombotic events. The identification of prothrombotic states is of immediate practical usefulness in the orientation, prophylaxis and treatment of pulmonary embolism. Detection of individuals resistant to activated protein C. the most frequent laboratory anomaly in the study of patients with venous thromboembolism, offers a better approach for these patients as well as a better prophylaxis and orientation of their direct relatives concerning thromboembolic events. The authors describe the clinical case of a young woman, previously healthy, who developed serious pulmonary thromboembolism, the resolution of which was difficult and the evolution unusual. Later, a state of resistance to activated protein C (aPCr) was identified. Concerning the case described, the authors reflect on hypercoagulable situations, especially "aPCr" states.

[Myocardial infarct without angiographic coronary atherosclerosis: study of a group of patients]. / Enfarte do miocárdio sem doença coronária aterosclerótica angiográfica: estudo de um grupo de doentes.

STUDY OBJECTIVES: Clinical characterization and aspects of subsidiary clinical tests in a group of patients with myocardial infarction with no visible angiographic atherosclerotic stenosis. Etiologic identification, therapeutic approach and prognostic assessment of non atherosclerotic myocardial infarction. PATIENTS: We studied patients admitted with myocardial infarction to coronary care unit over a 4 year period and in whom cardiac catheterism did not show atherosclerotic coronary stenosis (17 patients). METHODOLOGY: Retrospective study; Assessment of clinical characteristics, exercise test parameters, echocardiogram, hemodynamics, heart rate variability (HRV) and signal-averaged electrocardiogram (ECG) of this group of patients; Maximal follow-up of 44 months and minimal of 3 months (average: 19.9 +/- 12.7 months) for the occurrence of ischemic cardiac events (recurrent angina, reinfarction or sudden death). RESULTS: Non atherosclerotic coronary infarction was an unusual situation (2% of the totality of the infarction hospitalized during those 4 years--795 cases), occurring mainly among young men, with few vascular risk factors (except smoking), as small infarctions, without a preferential localization and with good evolution in the acute phase (Killip I). In the predischarge exercise test there was no residual ischemia and functional capacity was generally good. In the majority of cases left ventricular systolic function was preserved (82% of the cases). With cardiac catheterism, we observed two cases of "bridging" and four cases of slow contrast progression. In arrhythmic risk stratification with 24 hours ECG, HRV and high resolution ECG, we observed no adverse prognostic markers in the majority of the cases. The clinical observation of the patients and the tests permitted us to establish probable hypotheses for the etiological diagnoses in 10 of the cases (left main anterior descending artery "bridging"--2 cases; slow contrast progression in the coronary vessels--4 cases, severe aortic stenosis--1 case; left valvular mechanic prosthesis--1 case: probable coronary thrombosis with complete reperfusion after thrombolytic therapy--2 cases). The therapeutic approach in the acute phase was the same as that of atherosclerotic infarctions. Secondary prevention was individualized and according to each case etiology, maintaining the antiplatelet agents. In the follow-up there was unstable angina in 3 patients. There were no cases of reinfarction or sudden death. CONCLUSIONS: This study allowed the characterization of the group of non atherosclerotic myocardial infarction as a group of young men with few vascular risk factors, with small infarctions and good prognosis, without adverse arrhythmic risk markers. It also allowed to identify the probable infarction etiology in 10 patients and the secondary individual prevention for each situation. We noted a good prognosis of this situation at two years.

[Pheochromocytoma--apropos a clinical case]. / Feocromocitoma--a propósito de um caso clínico.

A case of a 43-year-old woman with severe sustained hypertension resistant to many antihypertensive drugs, frequent hypertensive crisis and symptoms suggestive of pheochromocytoma (symptomatic triad) is presented. Three of the four determinations of the urinary catecholamines metabolites have been normal as it was the only determination of plasmatic catecholamines. Abdominal sonography and CT scan detected a left adrenal mass, that have been histologically confirmed, after surgery, to be a pheochromocytoma. After adrenalectomy, the patient symptoms disappeared but she maintained mild hypertension easily controlled with drugs. The finding of normal plasmatic and urinary catecholamines values in a patient with sustained hypertension may suggest that we are handling with a case of essential hypertension and a superimposed pheochromocytoma with paroxysmal secretion. Some considerations are made essentially about specificity and sensitivity of diagnostic tests.

[Primary hyperaldosteronism. A report of 2 clinical cases]. / Hiperaldosteronismo primário. Apresentação de dois casos clínicos.

We describe two clinical cases of primary hyperaldosteronism caused by adrenal adenoma (Conn's syndrome) with very different forms of clinical presentation. Some theoretical considerations about diagnosis and treatment of the disease are made.

[Value and limitations of transthoracic Doppler echocardiography in the diagnosis of thromboses of mechanical valve prosthesis. Report of 19 cases]. / Intérêt et limites de l'écho-doppler transthoracique dans le diagnostic des thromboses de prothèses valvulaires mécaniques. A propos de 19 cas.

The diagnosis of thrombosis of a valvular prosthesis is difficult especially in cases of partial thrombosis. The authors report 19 cases of partial thrombosis of mainly (16 cases) mechanical valve prostheses confirmed by radioscopy and treated either by reoperation or fibrinolysis. Mitral Valve Prostheses: 14 cases (6 Björk, 7 SJM, 1 Carbomedics). All but one case showed significant prolongation of the pressure half time compared with the postoperative reference value. In one case, however, the functional parameters of the prosthesis were normal; the diagnosis was made from the finding of a mobile thrombus on the ventricular surface of the prosthesis. Aortic Valve Prostheses: 5 cases (3 Björk, 1 SJM, 1 Duromedics). Continuous wave Doppler showed significant increases in the velocity of transprosthetic blood flow with respect to the postoperative reference values. Accurate analysis of the mobile elements of the prostheses was usually impossible. These results show that transthoracic Doppler echocardiography remains an excellent method of study and surveillance of mechanical valve prostheses but the limitations of the technique should be familiar to all operators.