Hand Involvement in Ollier Disease and Maffucci Syndrome: a Case Series

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.

Renal involvement in human rabies: clinical manifestations and autopsy findings of nine cases from northeast of Brazil

A retrospective study was conducted in nine patients with rabies admitted to a hospital of Fortaleza, Brazil. Autopsy was performed in all cases. The ages ranged from three to 81 years and six were males. They all were bitten by dogs. The time between the accident and the hospital admission ranged from 20 to 120 days (mean 45 ± 34 days). The time until death ranged from one to nine days (mean 3.3 ± 5.5 days). The signs and symptoms presented were fever, hydrophobia, aerophobia, agitation, disorientation, dyspnea, sialorrhea, vomiting, oliguria, sore throat, pain and hypoesthesia in the site of the bite, headache, syncope, cough, hematemesis, mydriasis, hematuria, constipation, cervical pain and priapism. In three out of six patients, there was evidence of acute renal failure, defined as serum creatinine > 1.4 mg/dL. The post-mortem findings in the kidneys were mild to moderate glomerular congestion and mild to intense peritubular capillary congestion. Acute tubular necrosis was seen in only two cases. This study shows some evidence of renal involvement in rabies. Histopathologic findings are nonspecific, so hemodynamic instability, caused by autonomic dysfunction, hydrophobia and dehydration must be responsible for acute renal failure in rabies.

FATAL DISSEMINATED CRYPTOCOCCOSIS WITH RENAL INVOLVEMENT IN AN HIV-INFECTED PATIENT

SUMMARY Introduction: We present a fatal case of disseminated cryptococcosis in a young man whose diagnosis of HIV infection was made at the time of admission to the emergency room. Case report: The patient was a twenty-three-year-old man, with a history of daily fever during one month associated with diarrhea, weight loss, headache, vomiting and generalized seizures. He also had a history of diabetes mellitus, alcoholism and drug addiction. Upon physical examination the patient was pale, disoriented and had periods of agitation. White blood cells count was 3,440/mm3 (5% lymphocytes), hemoglobin was 10g/dL, platelets were 83,000/ mm3. Creatinine was 0.7 mg/dL; urea 19 mg/dL; Na, K, and liver enzymes were within normal limits. Lactic dehydrogenase was 494 IU/L. Cerebrospinal fluid (CSF) analysis revealed 10 white blood cells/mm3 (58% neutrophils, 31% lymphocytes, 11% monocytes) and 2 red blood cells/mm3. India ink test revealed six Cryptococcus yeasts/mm3. CSF glucose was 122 mg/dL and protein was 36 mg/ dL. VDRL test was negative and anti-HIV test was positive. Intravenous hydration, insulin, phenytoin, fluconazole, pyrimethamine, sulfadiazine, folinic acid, and amphotericin B were started. The patient did not improve and became obtunded and hypotensive. He was intubated and put on mechanical respiration. He received vasoactive drugs and died less than 24 hours after admission. A postmortem examination was performed and revealed disseminated cryptococcosis, with severe involvement of the kidneys. Conclusion: Cryptococcosis, as a rule, is a systemic disease that affects mostly immunocompromised individuals, especially patients with AIDS. When diagnosed late in its course it has a very high mortality.

Neurological involvement in visceral leishmaniasis: case report

Visceral leishmaniasis is a severe and potentially fatal vector-borne disease. The most typical symptoms are fever, hepatosplenomegaly, weight loss, bleeding and bacterial infections. Neurological changes are rarely reported. This paper describes a child who presented with neurological signs as the first symptoms of leishmaniasis; tone was diminished and tremors in the extremities were observed. A diagnosis of visceral leishmaniasis was confirmed by parasite detection in the bone marrow. Symptoms were reversed by specific treatment. The nature of a possible mechanism of neurological involvement in visceral leishmaniasis remains unexplained.

Do stars govern our actions? astrocyte involvement in rodent behavior

Do stars govern our actions? Astrocyte involvement in rodent behavior

Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients

Background:Familial amyloidotic polyneuropathy (FAP) is a rare disease diagnosed in Brazil and worldwide. The frequency of cardiovascular involvement in Brazilian FAP patients is unknown.Objective:Detect the frequency of cardiovascular involvement and correlate the cardiovascular findings with the modified polyneuropathy disability (PND) score.Methods:In a national reference center, 51 patients were evaluated with clinical examination, electrocardiography (ECG), echocardiography (ECHO), and 24-hour Holter. Patients were classified according to the modified PND score and divided into groups: PND 0, PND I, PND II, and PND > II (which included PND IIIa, IIIb, and IV). We chose the classification tree as the statistical method to analyze the association between findings in cardiac tests with the neurological classification (PND).Results:ECG abnormalities were present in almost 2/3 of the FAP patients, whereas ECHO abnormalities occurred in around 1/3 of them. All patients with abnormal ECHO also had abnormal ECG, but the opposite did not apply. The classification tree identified ECG and ECHO as relevant variables (p < 0.001 and p = 0.08, respectively). The probability of a patient to be allocated to the PND 0 group when having a normal ECG was over 80%. When both ECG and ECHO were abnormal, this probability was null.Conclusions:Brazilian patients with FAP have frequent ECG abnormalities. ECG is an appropriate test to discriminate asymptomatic carriers of the mutation from those who develop the disease, whereas ECHO contributes to this discrimination.

Mitochondrial localization ot two brain proteins, p42IP4/centaurin-[alpha]1/ADAP1 and CNP, and their involvement in regulation of mitochondrial Ca 2+

Magdeburg, Univ., Fak. für Naturwiss., Diss., 2010

Functional studies of β-arresting and αB-crystallin as interaction partners of PAR-1 and PAR-2 and their involvement in protective and proliferative signaling pathways in astrocytes

Magdeburg, Univ., Fak. für Naturwiss., Diss., 2014

Pulmonary involvement in Schistosomiasis mansoni

The post-treatment pulmonary alterations were evaluated in patients (Study 1) and in mice (Study 2) infected with Schistosoma mansoni. Study 1: the patients were examined pre and post-treatment (with ora oxamniquine) and the following exams were performed: sputum for eosinophils and chest x-ray. Study 2: four groups of mice (total = 64) were studied; Group I (infected and treated with oxamniquine); II (infected and not treated); III (not infected and treated) and IV (not infected and not treated). All were x-rayed to check for pulmonary abnormalities pre and post-treatment and lung specimens were studied by optical microscopy and immunofluorescence. We have found abnormalities in the parameters checked in both studies and the results suggest an immunological reaction, probably due to deposition of immune complexes in the lungs, with subsequent activation of the complement system. The experimental study showed that the alterations are not dependent of the presence of eggs and/or worms of S. mansoni in the lungs, thus corroborating the hypothesis of deposition of circulating material.

Central nervous system involvement in experimental trypanosomiasis cruzi

A review of the available literature on central nervous system involvement in experimental trypanosomiasis cruzi is undertaken. From a critical analysis of 26 works on experimental infections with Trypanosoma cruzi (23 on the acute phase, 2 on the chronic phase, and one describing sequentially both phases), all supported by neuropathologic studies, it can be concluded that: 1) central nervous system involvement during the acute phase, in the form of encephalitis in multiple foci, with variable intensity of the parasitism and inflamatory changes, is frequent and well documented; 2) in animals with more severe central nervous system involvement death occurs as a result of the brain lesions or acute chagasic myocarditis, the latter being always present; 3) in animals with more discrete brain involviment death during the acute phase is due to complications not related to the nervous system, among which congestive heart failure second to acute chagasic myocarditis, a condition that is always present, regardless of whether or not the central nervous system is infected; 4) it is possible that in surviving animals that had mild encephalitis the inflammatory changes from the acute phase usually regress as the infection progress to the chronic phase.

Atteintes cardiaques dans les connectivites: l'exemple du lupus érythémateux systémique [Cardiac involvement in connective tissue disease: the example of systemic lupus erythematosus]

When we think of cardiac affection in the context of systemic lupus erythematosus (SLE), we usually refer to pericarditis first. As frequent as this affection is, it is actually not the only cardio-vascular problem that occurs with this systemic inflammatory disease. Are the cardiac events--ranging from multiple heart valve involvements to increased cardiovascular risks--clinically significant? And are they involving a specific follow-up, treatment or support? We are therefore trying to evaluate these questions in order to give some recommendations to any practitioners following up a lupus patient, or a patient suffering from any other inflammatory systemic disease.

Family physician involvement in cancer care and lung cancer patient emotional distress and quality of life.

PURPOSE: This study aims to describe emotional distress and quality of life (QoL) of patients at different phases of their lung cancer and the association with their family physician (FP) involvement. METHODS: A prospective study on patients with lung cancer was conducted in three regions of Quebec, Canada. Patients completed, at baseline, several validated questionnaires regarding their psychosocial characteristics and their perceived level of FP involvement. Emotional distress [profile of mood states (POMS)] and QoL [European Organization for Research and Treatment of Cancer Quality of Life Core 30 (EORTC QLQ-C30)] were reassessed every 3-6 months, whether patients had metastasis or not, up to 18 months. Results were regrouped according to cancer phase. Mixed models with repeated measurements were performed to identify variation in distress and QoL. RESULTS: In this cohort of 395 patients, distress was low at diagnosis (0.79 ± 0.7 on a 0-4 scale), raising to 1.36 ± 0.8 at the advance phase (p < 0.0001). Patient's global QoL scores significantly decreased from the diagnosis to the advance phase (from 66 to 45 on a 0-100 scale; p < 0.0001). At all phases of cancer, FP involvement was significantly associated with patients' distress (p = 0.0004) and their global perception of QoL (p = 0.0080). These associations remained statistically significant even after controlling for age, gender, and presence of metastases. CONCLUSIONS: This study provides new knowledge on patients' emotional distress and QoL with cancer evolution and, particularly, their association with FP involvement. Other studies should be conducted to further explore FP role in cancer supportive care.

Patients' preferences on information and involvement in decision-making for gastrointestinal surgery

Objective: The relationship between physicians and patients has undergone¦important changes, and the current emancipation of patients has led to¦a real partnership in medical decision-making. This study aimed to assess¦patients' preferences on different aspects of decision-making during treatment¦and potential complications, as well as the amount and type of preoperative¦information before visceral surgery.¦Methods: Prospective non-randomized study based on a questionnaire given¦to 253 consecutive patients scheduled for elective GI surgery.¦Results: Concerning surgical complications or treatment in the intensive care¦unit, 64% of patients wished to take actively part in any medical decisions.¦The respective figures for cardiac resuscitation and treatment limitations were¦89% and 60%. About information, 73%, 77% and 47% of patients wish¦detailed information, information on a potential ICUhospitalization and cardiac¦resuscitation, respectively. Elderly and low-educated patients were significantly¦less interested in shared medical decision-making (p = 0·003 and 0·015) and in¦information receiving (p = 0·03 and 0·05). Similarly, involvement of the family¦in decision-making was significantly less important in elderly and male patients¦(p = 0·05 and 0·03 respectively). Neither the type of operation (minor or major)¦nor the severity of disease (malignancies vs. non-malignancies) was a significant¦factor for shared decision-making, information or family involvement.¦Conclusion: The vast majority of surgical patients clearly want to get adequate¦preoperative information about their disease and the planned treatment. They¦also consider it as crucial to be involved in any kind of decision-making for¦treatment and complications. The family's role is limited to support the treating¦physicians if the patient is unable to participate in taking decisions.