A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.

X-linked deafness-2 (DFNX2) is an X-linked recessive disorder characterized by profound sensorineural hearing loss and a pathognomonic temporal bone deformity. Because hypothalamic malformations associated with DFNX2 have been rarely described, we aimed to further describe these lesions and compare them with features of a nonaffected population. All patients diagnosed with DFNX2 between 2006 and 2019 were included and compared with age-matched patients with normal MR imaging findings and without hypothalamic dysfunction. MR imaging features differing between groups were selected to help identify DFNX2. Sensitivity and specificity were calculated for these features. Agreement among 3 radiologists was quantified using the index κ. Information on the presence or absence of gelastic seizures, precocious puberty, or delayed puberty was also gathered. We selected distinctive MR imaging features of hypothalamic malformations in DFNX2. The feature selected on axial T2 images was the folded appearance of the ventromedial hypothalamus (sensitivity, 100%; specificity, 95.8%) characterized by an abnormal internal/external cleft (sensitivity, 100%; specificity, 95.7%). On coronal T2, the first distinctive feature was a concave morphology of the medial eminence (sensitivity, 100%; specificity, 97.1%), the second feature was at least 1 hypothalamic-septum angle ≥90° (sensitivity, 90%; specificity, 72.5%), and the third feature was a forebrain-hypothalamic craniocaudal length of ≥6 mm (sensitivity, 70%; specificity, 79.7%). Clinical features were also distinctive because 9 patients with DFNX2 did not present with gelastic seizures or precocious puberty. One patient had delayed puberty. The κ index and intraclass correlation coefficient ranged between 0.78 and 0.95. Imaging and clinical features of the hypothalamus suggest that there is a hypothalamic malformation associated with DFNX2. Early assessment for pubertal delay is proposed.

Glutamine supplementation does not prevent small bowel mucosal atrophy after total parenteral nutrition in the rat.

Glutamine supplementation to non-lipid parenteral nutrition has been demonstrated to attenuate villus atrophy and increase mucosal DNA content in the rat. This study was performed in order to determine the effects of glutamine supplementation to a balanced TPN mixture (including lipids) on epithelial cell kinetics using autoradiography. Male Sprague-Dawley rats were used. Group 1 (control) received food and an intravenous saline infusion. Group 2 received an intravenous TPN mixture including lipids but without glutamine. The same TPN mixture, glutamine replacing an isonitrogenous amount of non-essential amino acids, was given to Group 3. Animals were fed for 7 days, whereafter blood and intestinal samples were taken 1 h after injection of tritiated thymidine. Microscopy of specimens from proximal jejunum revealed a significant reduction in the number of cells in crypts and villi in both TPN groups (2 and 3) compared to orally fed animals (p < 0.001). Epithelial cell numbers were not significantly different in Group 2 and 3. Similarly, the labelling index (number of labelled cells/number of crypt cells) was not affected by glutamine administration. In plasma, glucagon concentrations in Group 2 (TPN without glutamine) seemed to decrease compared to Group 1 and 3 (p = 0.06). In this study, glutamine supplementation did not affect apithelial atrophy or cell proliferation. It is concluded, that the effects of glutamine on mucosal atrophy and renewal in jejunum may depend on the composition of the TPN mixture supplied during parenteral feeding.

Fluorescamine-induced membrane permeability in mitochondria.

1. Addition of fluorescamine (75 microM) to mitochondria induced an increase in membrane permeability. 2. The leakiness of the inner mitochondrial membrane is characterized by extensive release of accumulated Ca2+, collapse of the transmembrane potential, mitochondrial swelling and efflux of matrix proteins, among them, malate dehydrogenase. 3. These effects were diminished by supplementing the media with 1 mM phosphate, and partially prevented by Mg2+. 4. These results indicate that the primary amino groups of membrane components contribute, partially, to the maintenance of the permeability barrier in mitochondria.

Cierre de colostomías / Ostomy closure

Se revisan 125 casos de cierre de ostomia, 119 colostomiasy 6 ileostomias en la Unidad Intermedia Manuel Uribe Angel de Envigado, del Servicio Seccional de Salud de Antioquia (SSSA), durante un periodo de 3 años, siendo el principal agente causal el trauma por arma de fuego (75 por ciento). Se observó que el colon por enema fue normal en un 99 por ciento de los pacientes; hubo 33 complicaciones en 25 pacientes (26.4 por ciento), de las cuales, el 8 por ciento requirio corrección quirurgica y el 18 por ciento se trato medicamente. Se observó una tendencia a disminir las complicaciones cuando el intervalo de tiempo al cierre era mayor. La tecnica extraperitoneal y cierre primario, mostro ser la de menor morbilidad. Se observó que el cierre de la piel no aumento esta morbilidad. Se hacen recomendaciones derivadas de los resultados. El cierre de colostomia es una cirugia que tiene morbilidad y mortalidad y, como tal, no debe ser menospreciada o tenida como un procedimiento menor. Una revision de 10 publicaciones, que recoge 1.417 pacientes, arrojo una morbilidad que vario entre el 10 y el 50 por ciento, y una mortalidad entre el 0 y el 4 por ciento. En nuestro media, Ramirez y Suarez (1) observaron un 27 por ciento de morbilidad, y Bolero y Perez (2) informaron 14 por ciento de morbilidad y 0.5 por ciento de mortalidad. El presente trabajo busca mostrar la experiencia de 3 años en la Unidad Intermedia Manuel Uribe Angel adscrita al Servicio Seccional de Salud de Antioquia.

Clinical and laboratory studies with amikacin in newborns, infants, and children.

Thirty (86%) of 35 infants and older children with proven gram-negative sepsis had a complete clinical remission after treatment with amikacin. In 27 (82%) of 33 infectious episodes for which bacteriologic results were available before and after treatment, the organism was eradicated. The dosage of amikacin was either 7.5 mg/kg or 15 mg/kg given intramuscularly at 12-hr intervals. No adverse clinical effects or laboratory abnormalities were observed during treatment, which lasted from five to 14 days. All bacteria were sensitive to amikacin when tested by the disk diffusion method, and all but a single strain of Pseudomonas were sensitive when tested by the agar dilution method. Assays of serum and urine demonstrated adequate levels of amikacin after single intramuscular injections of 3.75 or 7.5 mg/kg; simultaneous assays of serum and cerebrospinal fluid in two cases demonstrated comparable concentrations of drug suggestive of a high degree of penetration into the cerebrospinal fluid in two cases demonstrated comparable concentrations of drug suggestive of a high degree of penetration into the cerebrospinal fluid during infection. Serial measurements of amikacin in serum from 0.5 to 12 hr after administration of single doses of 7.5 mg of drug/kg to six newborns revealed no significant differences in the concentrations achieved with intramuscular or intravenous administration of the drug.

Amikacin (BBK8) in infections due to gram-negative organisms in children over the age of one month.

Thirty children over the age of one month were treated with amikacin (BBK8), a new aminoglycoside derived from kanamycin A, with three intramuscular dosage schedules. Each group consisted of ten patients. The first received 7-5 mg/kg/12 hours, the second 7-5 mg/kg/24 hours and the third, 3-75 mg/kg/12 hours. The infections and the bacteria were similar in all three groups: pyelonephritis, abscesses of soft tissues, infected wounds, septicaemia, superinfected empyema, gastro-enteritis, chronic otitis media; the bacteria were E. coli, Klebsiella, Pseudomonas and Salmonella. A were sensitive by the Kirby-Bauer method, although two were resistant by dilution in Petri dish. Of the thirty patients, twenty four (80%) were cured. The schedule of 3-75 mg/kg/12 hours was as effective as the schedule of 7-5 mg/kg/12 hours for infections such as pyelonephritis, superficial abscesses, contaminated wounds, gastro-enteritis and sepsis. The cases with infections localized in rather unaccessible sites required double the dose and strict drainage and cleanliness. Plasma levels with the administration of 3-75 mg/kg fluctuated between 8-3 and 12-6 mcg/ml; with 7-5 mg/kg they fluctuated between 8-6 and 13-1. The minimum inhibitory level (MIL) for the majority of the bacteria was 1-25 mcg/ml. No toxic reactions were observed.

Effectiveness of two new cephalosporins, cephazolin and cephapirin, administered intermittently in acute and chronic osteomyelitis in children.

Ten patients were treated, most of pre-school age, with acute osteomyelitis, produced by Staphylococcus aureus and Salmonella, having evolved for approximately one week, with sodium cephazolin at doses of 60 mg/kg/day intramuscularly in two daily injections for the first seven days and then in a single dose every twenty-four hours for four to seven weeks. Nine of ten patients were asymptomatic six months after this treatment. The patient who manifested chronic signs at the end of six weeks of therapy continued to be treated with three weekly injections of the same drug at an equal dose until the completion of six months, at the end of which he was asymptomatic. Ten patients with chronic osteomyelitis having evolved for two months to five years, due to penicillin-resistant Staphylococcus aureus, were treated with cephapirin at the dose of 30 mg/kg in one daily injection intramuscularly for three to four weeks and then the same dose on Mondays, Wednesdays and Fridays until the completion of six months. Eight patients who required it were sequestrectomized. Seven of the ten patients improve and remained asymptomatic for the same period of observation. The three patients who did not show marked clinical improvement did exhibit an appreciable radiological recovery. We have presented these regimens of treatment with a view of encouraging research into the intermittent administration of bactericidal antibiotics for pyogenic infections; in spite of the good results, we do not dare to recommend them in daily practice.