Clinical spectrum of BICD2 mutations.

BACKGROUND AND PURPOSE: Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. METHODS: We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. RESULTS: In the studied patients, three new pathogenic mutations were detected as well as the already defined pathogenic p.Ser107Leu mutation. The most frequent clinical picture was characterized by lower-limb weakness in combination with foot deformities. One patient manifested clinical and electrophysiological sensory impairment, and the epidermal nerve fiber density study of another patient revealed the existence of a small-fiber neuropathy. Muscle MRI showed a common pattern of fat deposition including selective involvement of gluteus medius and minimus at the pelvic level, the anterior compartment of the thigh and the posterior compartment of the calf, with only mild or no involvement of the intrinsic foot muscles. CONCLUSIONS: We report three new pathogenic mutations in the BICD2 gene. Muscle MRI confirms the existence of a selective pattern of thigh and leg muscle involvement in SMALED2A, providing additional information regarding pelvic and foot muscles. Moreover, our results raise the possibility of sensory involvement in the disease.

Characterization of bacterial communities exposed to Cr(III) and Pb(II) in submerged fixed-bed biofilms for groundwater treatment.

Two pilot-scale submerged-bed microbial biofilms were set up for the removal of Cr(III) and Pb(II) from groundwater, and the biological activities and structure of the bacterial communities developed in the presence of the heavy metals were analyzed. Artesian groundwater was polluted with Cr(III) or Pb(II) (15 mg/l) and amended with sucrose (250 mg/l) as carbon source. While Pb(II) was over 99% removed from groundwater during long-term operation (130 days), the efficiency of the removal of Cr(III) significantly decreased in time (95-73% after 60 days). Cr(III)-amended biofilms displayed significant lower sucrose consumption, ATP cell contents and alkaline phosphatase activity, compared to biofilms formed in the presence of Pb(II), while analysis of exopolymers demonstrated significant differences in their composition (content of carbohydrates and acetyl groups) in response to each heavy metal. According to transmission electron microscopy (TEM) and electron-dispersive X-ray analysis (EDX), Cr(III) bioaccumulated in the exopolymeric matrix without entering bacterial cells, while Pb(II) was detected both extra and intracellularly, associated to P and Si. Temperature-gradient gel electrophoresis (TGGE) profiling based on partial amplification of 16S rRNA genes was used to analyze the differences in the structure of the biofilm bacterial communities developed under exposure to each heavy metal. Prevalent populations in the biofilms were further identified by reamplification and sequencing of isolated TGGE bands. 75% of the sequences in the Pb(II) biofilter were evolutively close to the Rhodobacterales, while in the Cr(III) biofilter 43% of the sequences were found affiliated to the Rhizobiales and Sphingomonadales, and 57% to Betaproteobacteria.

Effectiveness and safety of the schedules of short and long term treatment for tuberculous meningoencephalitis at two hospitals of Lima--Peru.

INTRODUCTION: To compare the effectiveness and safety of short term 6 month-treatment and long term 12 month-treatment schedules for meningoencephalitis due to tuberculosis in two hospitals from Lima-Peru. METHODS: Comparative, retrospective and observational study. The patients were divided in two groups: Group 1: long term 12 month-treatment with isoniazid, rifampin, pyrazinamide, and ethambutol for the first 2 months; then isoniazid and rifampin for 10 months. Group 2: short term 6 month-treatment with isoniazid and rifampin, pyrazinamide and ethambutol for the first 2 months; then isoniazid and rifampin for 4 months. Clinical records, effectiveness, treatment failure, treatment side effects, mortality and late consequences after treatment were reviewed. RESULTS: Twenty-six patients with meningoencephalitis level I were included, 10 received the long term schedule and 16 the short term schedule treatment. From 51 patients with meningoencephalitis level II, 27 received the long term schedule and 24 the short term schedule treatment and of 31 patients with meningoencephalitis level III, 18 received the long term schedule treatment and 13 the short term schedule treatment. There was no statistically significant differences among levels I, II and III when effectiveness of short and long term schedule was evaluated. Moreover, there was no statistically significant difference in the frequency of treatment failure, treatment side effects, mortality and late consequences among groups. CONCLUSIONS: Long term 12 month-treatment and short term 6 month-treatment had similar effectiveness and safety in the treatment of meningoenchephalitis due to tuberculosis in HIV negative patients.

Factors associated with infection of primary total knee prosthesis in older adults in a referral hospital in Peru. 2012-2015. / Factores asociados a infección de prótesis total de rodilla primaria en adultos mayores en un hospital de referencia en Perú. 2012-2015.

OBJECTIVE: To determine the risk factors associated with prosthetic knee infection in elderly patients in a referral hospital in Peru. PATIENTS AND METHODS: A case and control study was performed. The calculated sample was 44 cases and 132 controls. The data were collected retrospectively from clinical records. U-Mann Whitney and Chi-square tests were performed in the comparison of cases and controls. Odds ratios (OR) were calculated in a binary logistic regression analysis to identify the risk factors, a P<.05 and a 95% confidence interval (CI) were considered significant. RESULTS: Significant (P<.05) risk factors evidenced in the bivariate analysis were obesity (OR=9.72; 95%CI: 4.47-21.14), smoking (OR=4.06; 95%CI: 1.59-10.39), rheumatoid arthritis (OR=4.66; 95%CI: 1.52-14.32), diabetes mellitus type2 (OR=5.63; 95%CI: 2.69-11.78), persistent drainage (OR=9.27; 95%CI: 3.85-22.31), superficial infection (OR=6.87; 95%CI: 3.25-14.49) and prolonged hospital stay (OR=4.67; 95%CI: 2.26-9.64). In the multivariate analysis where it was adjusted for confounding variables, it was determined that risk factors were obesity (ORa=9.14; 95%CI: 3.28-25.48), diabetes mellitus (ORa=3.77; 95%CI: 1.38-10.32), persistent drainage (ORa=4.64; 95%CI: 1.03-20.80) and superficial wound infection (ORa=27.35; 95%CI: 2.57-290.64). CONCLUSIONS: Risk factors for prosthetic knee infection identified in this study are preventable. The main risk factors were obesity, diabetes mellitus type2, superficial wound infection and persistent drainage, which were considered together or separately to be risk factors in the population studied.

Relevancia epidemiológica y clínica de la técnica elisa para SARS-COV-2 en Tegucigalpa y Comayaguela, Honduras / Epidemiological and clinical relevance of the ELISA Technique for SARS-COV-2 in Tegucigalpa and Comayagüela, Honduras

El virus SARS-CoV-2, es responsable de la enfermedad COVID-19; para su detección indirecta se utilizan inmunoensayos que cuantifican anticuerpos séricos contra algunas de sus proteínas. Objetivo: documentar resultados de la técnica ELISA, para la identificación cualitativa de anticuerpos contra SARS-CoV-2 en sujetos de Tegucigalpa y Comayagüela y la determinación de relevancia epidemiológica y clínica que presenta esta prueba. Material y Métodos: estudio correlacional transversal de 596 sujetos, a quienes se les practicó ELISA para la determinación de anticuerpos contra el SARS-CoV-2. Se recolectó datos epidemiológicos y clínicos del 13 de mayo al 31 de agosto 2020. Resultados: se analizó datos de 492 sujetos, 271 mujeres y 221 hombres, 313 de Tegucigalpa y 179 de Comayagüela. La edad media fue de 42.1 años; 253 tuvieron nexo epidemiológico negativo y 239 fueron positivos, se identificaron 88 profesiones, con base en la clasificación del Departamento de Trabajo de Estados Unidos y se categorizaron en grupos de riesgo bajo, medio y alto. Se encontraron 12 síntomas clínicos y 2 enfermedades concomitantes. De acuerdo al resultado de la prueba ELISA, los resultados se estructuraron en cuatro grupos: IgM e IgG negativos, IgM positivos, IgM e IgG positivos e IgG positivos, los que se asociaron con las variables epidemiológicas y clínicas. Los habitantes de Comayagüela presentaron mayor número de casos de ELISA positiva en comparación con los de Tegucigalpa. 1Facultad de Ciencias Médicas, UNAH. 2 Laboratorios Molina, Tegucigalpa, Honduras. 3 Western International School, San Pedro Sula. 4 Grupo de Investigación Historia. 5 Dirección General de Documentos Normativos, SESAL. 6 Grupo de Investigación Historia. 7 Departamento de Ciencias Fisiológicas, UNAH. Autor corresponsal: Mayra Gabriela Handal Lorenzana. mayr_gt@hotmail.com Recibido: 15/04/2021 Aceptado: 28/06/2021 Conclusiones: no hubo difer encia entr e edad (p=0.528) y sexo (p=0.245) en cuanto a los resultados del ELISA. Un tercio de los sujetos a los que se detectó algún anticuerpo no refirieron nexo epidemiológico. Las profesiones u ocupaciones más afectadas fueron las de riesgo medio y los síntomas identificados más frecuentes fueron fiebre, cefalea y odinofagia.

The epidemiology of parainfluenza virus infection in lung transplant recipients.

Human parainfluenza virus (HPIV) is a common cause of seasonal respiratory tract infections. However, little is known about the clinical presentation and impact of HPIV infections in lung transplant recipients. We reviewed HPIV infections at the University of Pittsburgh Medical Center. From January 1990 through May 2000, 32 cases of HPIV infection were identified. HPIV infection was found in 24 lung transplant recipients (75%), all of whom were included in the study group. Diagnosis was established at a median of 2.1 years after transplantation (range, 0.6-5 years). Presenting symptoms included cough (17 patients), shortness of breath (16), and temperature elevation (4). Respiratory failure occurred in 5 patients (21%). The HPIV serotypes were HPIV-1 (7 patients), HPIV-2 (2), and HPIV-3 (15 [63%]). Twenty-two patients underwent transbronchial biopsy, and 18 (82%) showed signs of acute allograft rejection. Seven patients (32%) subsequently were found to have bronchiolitis obliterans.

Influenza A myocarditis developing in an adult liver transplant recipient despite vaccination: a case report and review of the literature.

Solid organ transplant recipients receiving chronic immunosuppressive agents are at increased risk to acquire influenza virus despite vaccination. Myocarditis is a known but rare complication of influenza infection. We present the first adult liver transplant recipient who received prophylactic vaccination but developed influenza A myocarditis. This may occur in solid organ transplant recipients, because they have reduced response to protein vaccines, which may leave them vulnerable to infections. Studies are needed to evaluate if antiviral chemoprophylaxis in solid organ transplant recipients during influenza season would be an effective preventive therapy against influenza in this high-risk population.

Acute respiratory failure associated with pulmonary cryptococcosis in non-aids patients.

PURPOSE: To determine the incidence of acute respiratory failure (ARF) in non-AIDS patients with pulmonary cryptococcosis (PC). DESIGN: Retrospective cohort study. SETTING: University of Pittsburgh Medical Center, Pittsburgh, PA. SUBJECTS: All patients in whom PC without HIV infection was diagnosed between February 1989 and March 1999. RESULTS: Thirty-three patients with PC were identified, and 11 of those patients (33%) developed ARF and comprised the study group. Underlying diseases included solid-organ transplant recipients (seven patients; 64%) and other underlying medical conditions (four patients; 36%). The most common symptoms were cough, shortness of breath, and temperature elevation. Extrapulmonary involvement was seen in six patients (meningitis, four patients; peritonitis, one patient; laryngeal mass, one patient). Six of the 11 patients (55%) died. CONCLUSION: ARF may develop in one third of non-AIDS patients with PC. This clinical syndrome is associated with the dissemination to extrapulmonary sites and high mortality rates. PC should be recognized as a possible cause of respiratory failure in non-AIDS patients.

Relapsing bacteremia in patients with ventricular assist device: an emergent complication of extended circulatory support.

BACKGROUND: Ventricular assist devices (VAD) are currently approved for use as a bridge for transplantation. Although reports have suggested acceptable rates of survival of patients with VAD, there is little information regarding the mechanism and etiology of bacteremia in these patients. METHODS: We prospectively followed patients who underwent VAD implantation and developed bacteremia during VAD support at the University of Pittsburgh Medical Center. Relapsing bacteremia was defined as at least two episodes of positive blood cultures with a genetically related organism on 2 different days. Species identification and susceptibility testing were performed on all isolates. Pulse field gel electrophoresis was performed on selected blood and VAD isolates. RESULTS: Between January 1998 and August 1999, 3 patients with VAD developed relapsing bacteremia, which was treated with full courses of antibiotic agents, 2 of whom also developed VAD endocarditis. All 3 patients had documented driveline or device pocket infections with these isolates. Consecutive blood and VAD isolates were found to be genetically related within each patient. CONCLUSIONS: These patients with bacteremia after VAD implantation had relapse due to the same strain, which may have originated from indolent driveline infection. Endovascular infection in this setting is difficult to eradicate with antibiotic agents and carries a high mortality. These patients should be considered to have priority for orthotopic heart transplantation.

111In-pentetreotide scintigraphy is superior to 123I-MIBG scintigraphy in the diagnosis and location of chemodectoma.

Chemodectomas, or glomus tumours, are unusual head and neck paragangliomas. A non-invasive imaging technique, 123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy, has long been used for the diagnosis of all types of paraganglioma. The aim of this study was to evaluate and compare classic 123I-MIBG scintigraphy with the more recent 111In-pentetreotide scintigraphy in the diagnosis and location of chemodectomas. We performed 123I-MIBG and 111In-pentetreotide scintigraphy in eight patients (7 females, 1 male) with histologically or radiologically confirmed chemodectomas (five carotid body and three jugulotympanic chemodectomas). 123I-MIBG uptake was visualized in four patients on planar views and SPET images (sensitivity 50%); uptake was low in three patients. Using 111In-pentetreotide scintigraphy, all chemodectomas in eight patients were visualized (sensitivity 100%) and 111In-pentetreotide uptake was high in all cases. In conclusion, our results indicate that 111In-pentetreotide scintigraphy is superior to 123I-MIBG scintigraphy in the diagnosis and location of chemodectomas. In-pentetreotide or 123I-MIBG uptake suggests a neuroendocrine origin, providing important functional information in the diagnosis of chemodectomas. Moreover, 111In-pentetreotide scintigraphy permits a good classification of patients with or without somatostatin receptors in the chemodectoma in the application of pharmacological therapy with somatostatin analogues to inoperable tumours. The main therapeutic action of cold somatostatin analogues is to inhibit hormonal hypersecretion in different neuroendocrine tumours. In chemodectomas, however, the most important effect of somatostatin analogues is to reduce tumour volume or inhibit growth progression.

The radiology of pulmonary cryptococcosis in a tertiary medical center.

Pulmonary cryptococcal infections occur in both immunocompetent and immunocompromised individuals, with a reported increased incidence of diffuse pulmonary disease in acquired immune deficiency syndrome (AIDS) patients. The authors observed no differences in the radiographic appearances of pulmonary cryptococcal disease between human immunodeficiency virus (HIV) patients and other immunocompromised individuals. Chest computed tomography (CT) contributes to a more comprehensive understanding of pulmonary cryptococcal infections.

[The hemodynamic effects of the combination of milrinone in heart failure refractory to treatment with dopamine, dobutamine and/or nitroprusside]. / Efectos hemodinámicos de la asociación de milrinona en la insuficiencia cardíaca refractaria al tratamiento con dopamina, dobutamina y/o nitroprusiato.

INTRODUCTION: Classical treatment of advanced heart failure is mainly based on the intravenous administration of inotropic drugs and vasodilators. Phosphodiesterase-III inhibitors, drugs whose effectiveness is not affected for the beta-receptor downgrading, may be particularly helpful in patients with severe heart failure refractory to conventional treatment with dopamine, dobutamine and/or nitroprusside. PATIENTS AND METHODS: We have analysed the hemodynamic effects of milrinone in 13 patients (11 men, 2 women, mean age 55 +/- 12 years) with advanced heart failure resistant to dopamine, dobutamine and/or nitroprusside. Basally, before milrinone was administered, mean cardiac index and pulmonary capillary wedge pressure were 1.9 +/- 0.4 l/min/m2 and 25 +/- 6 mmHg, respectively. Milrinone was administered intravenously with a initial dose of 50 micrograms/kg over 10 minutes and followed by and infusion of 0.75 micrograms/kg/min over 6 hours. RESULTS: During milrinone administration cardiac index and stroke volume index significantly increased (40% and 28%, respectively) (p < 0.05). Furthermore, systemic and pulmonary vascular resistance indexes significantly decreased (17% and 30%, respectively) (p < 0.05). Mean right atrial pressure and pulmonary capillary wedge pressure also decreased (36% and 20%, respectively), but differences did not reach statistical significance. Milrinone was well tolerated and no patient presented serious side-effects. CONCLUSION: Our results suggest that in patients with advanced heart failure refractory to conventional treatment with dopamine, dobutamine and/or nitroprusside, the addition of milrinone significantly improves parameters of systolic function.

Ectopic pituitary adenoma in the sphenoid causing Nelson's syndrome.

An ectopic functioning pituitary in the sphenoid is an extremely rare occurrence, and even rarer is pituitary adenoma causing symptoms of Nelson's syndrome. A case is presented of a young female diagnosed and treated in our clinic. The only functioning hypophyseal tissue was detected inside the sphenoid, as the pituitary gland had been radiated because of Cushing's syndrome 10 years before and imaging studies revealed an empty sella.

Description of Pratylenchus gutierrezi n. sp. (Nematoda: Pratylenchidae) from Coffee in Costa Rica.

A lesion nematode, Pratylenchus gutierrezi n. sp., collected from the roots of coffee in the Central Plateau of Costa Rica, is described and illustrated. Its relationships to Pratylenchus flakkensis, P. similis, and P. gibbicaudatus, the only other species of the genus having two head annules, males, or spermatheca with sperm, and an annulated tail terminus, is discussed. Other distinctive characters are its posterior vulva (mean of 80%); its prominently rounded stylet knobs, low head, and subcylindrical tail. SEM observations provide additional details of females and males, especially face views, which show for the first time sexual dimorphism.

Detection of antibodies to polyomavirus SV40 in two central European countries.

Simian virus 40 (SV40) is significantly associated with some human cancers. However, the frequency of tumor-associated virus detection differs by geographic regions, so it is important to understand the status of SV40 infections in different populations. Poliovaccines potentially containing live SV40 were used in well-documented nationwide vaccination programs in Hungary and the Czech Republic that are reported here. We analyzed serum samples from periodic surveillance programs in those two countries for antibodies to SV40 using a specific plaque reduction neutralization assay. The prevalence of antibodies was between 1.3 and 8.7% in Hungary and from 1.0 to 4.0% in the Czech Republic. Females had a higher rate of antibodies than males, reaching in certain age groups 15.6% in Hungary and 8.3% in the Czech Republic. Antibodies to SV40 were found in similar proportions in both countries among persons not directly exposed to poliovaccines and subjects vaccinated in the era of SV40-free vaccines. Complexities and limitations of current serological approaches to epidemiological studies of SV40 in humans are discussed. These data suggest that SV40 may be present in these populations and emphasize the importance of follow-up studies to determine the pathogenesis of infections by this emerging human agent.

[Central neurocytoma: analysis of three cases and review of the literature]. / Neurocitoma central: a propósito de tres casos y revisión de la literatura.

INTRODUCTION AND CLINICAL CASES: Three cases of central neurocytoma, confirmed by immunohistochemical study are reported. The central neurocytoma has recently been added to the differential diagnosis of intraventricular tumors. It is more frequent than previously thought, with high incidence in young patients. The positivity for synaptophysin and neuron specific enolase, the negativity for neurofilament protein and glial fibrillary acid protein, and the finding of elements of neuronal differentiation on electron microscopy, are the main pathological features of these tumors. CONCLUSION: The surgical treatment is the election, and radiotherapy is reserved for malignant cases or recurrence.

[Embryonic quality in the use of urofolitropin vs recombinant FSH for in vitro fertilization]. / Calidad embrionaria en la utilización de urofolitropina vs FSH recombinante para fertilización in vitro.

There were no differences in both groups as tho the age of the patients; received doses of both types of FSH, nor HMG; but there was as to the amount of captured ovocytes, amount, and quality, embrionary, in special 1+ 2+ in favor of the group that received urofolitropine, specially under 35 years of age. In this study there was better qualy and amount, embrionary, obtained with the use of urofolitropine, as compared with FSH recombinant for in vitro fertilization.

[Alendronate treatment of osteoporosis secondary to Duchenne muscular dystrophy]. / Alendronato en el tratamiento de la osteoporosis secundaria a la distrofia muscular de Duchenne.

INTRODUCTION: Reduced mobility and glucocorticoids as adjunctive therapy causes osteoporosis in Duchenne muscular dystrophy. Alendronate has been used in childhood osteoporosis of other aetiologies with good results and no adverse effects. PATIENTS AND METHODS: Three patients with Duchenne dystrophy, symptoms of bone involvement (prior history of generalized bone pain and fractures) and bone mineral density (BMD) by dual-energy X-ray absorptiometry with Z-score ≤-2 SD. Treatment with oral alendronate was initiated (10mg/day). RESULTS: There was an increase in lumbar (L2-L4) BMD in all cases, with improvement of bone pain. No fractures and adverse effects were observed during follow up. CONCLUSION: Oral alendronate produces an increase in BMD in these patients, with good tolerance and no need for hospitalization, and so improves quality of life and reduces health care costs.

Indicaciones, eficacia y complicaciones en el uso de productos sanguíneos, Hospital General San felipe, Honduras / Indications, efficacy and complications of blood products, Hospital General San Felipe, Honduras

Los hemoderivados son productos valiosos cuya utilización puede salvar vidas, pero pueden dañar aquien los recibe. El país no dispone de información publicada sobre la utilización de productossanguíneos a nivel hospitalario, sus indicaciones, eficacia y complicaciones. Objetivo: Determinar las indicaciones, eficacia y complicaciones en el usode productos sanguíneos en el Hospital General San Felipe. Material y Métodos: se realizó un estudio descriptivo de tipo transversal en 166 pacientes mayores de 18 años, hospitalizados, que precisaban productos sanguíneos en el periodo comprendido entre el 18 de marzo 2013 al 4 de marzo 2014. Parala recolección de datos se utilizó un cuestionario con preguntas abierta y cerradas; la información para el análisis se extrajo de las boletas de requisiciónde productos sanguíneos recibidas en el Banco de Sangre, del expediente clínico y del instrumento de trabajo. Los pacientes fueron evaluados antes,durante y después de la transfusión. Resultados: 166 pacientes fueron transfundidos, 107(64.5%) mujeres y 59(35.5%) hombres. 138(83.1%) pacientes adolecían alguna enfermedad neoplásica. De 174 transfusionesrealizadas, los productos indicados fueron 154(88.5%) glóbulos rojos empacados, 8(4.8%) plaquetas y 6(3.4%) plasma. 104(62.6%) de los 166 pacientes transfundidos refirieron mejoría subjetiva, 26(15.7%)mejoraron su rendimiento físico, medido por la escala del Eastern Collaborative Oncology Group. Se encontró diversas complicaciones clínicas en 87(57.6%) de pacientes transfundidos con glóbulosrojos empacados. Conclusión: Más del 60% de los pacientes transfundidos experimentaron una sensación de bienestar, sin embargo la frecuencia decomplicaciones es considerable...(AU)