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1.
Am J Physiol Cell Physiol ; 297(4): C876-85, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19570891

ABSTRACT

Andersen's syndrome is a rare disorder that has been defined with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness has been reported in two-thirds of the patients. KCNJ2 remains the only gene linked to Andersen's syndrome; this gene encodes for the alpha-subunit of the strong inward-rectifier K+ channel Kir2.1. Several studies have shown that Andersen's syndrome mutations lead to a loss of function of the K+ channel activity in vitro. However, ex vivo studies on isolated patient muscle tissue have not been reported. We have performed muscle biopsies of controls and patients presenting with clinically and genetically defined Andersen's syndrome disorder. Myoblasts were cultured and characterized morphologically and functionally using the whole cell patch-clamp technique. No morphological difference was observed between Andersen's syndrome and control myoblasts at each passage of the cell culture. Cellular proliferation and viability were quantified in parallel with direct cell counts and showed no difference between control and Andersen's syndrome patients. Moreover, our data show no significant difference in myoblast fusion index among Andersen's syndrome and control patients. Current recordings carried out on myotubes revealed the absence of an inwardly rectifying Ba2+-sensitive current in affected patient cells. One consequence of the Ik1 current loss in Andersen's syndrome myotubes is a shift of the resting membrane potential toward depolarizing potentials. Our data describe for the first time the functional consequences of Andersen's syndrome mutations ex vivo and provide clues to the K+ channel pathophysiology in skeletal muscle.


Subject(s)
Andersen Syndrome/pathology , Muscle Fibers, Skeletal/physiology , Muscle, Skeletal/pathology , Adult , Aged , Andersen Syndrome/genetics , Andersen Syndrome/physiopathology , Cells, Cultured , Humans , Ion Transport , Male , Membrane Potentials , Muscle, Skeletal/physiopathology , Mutation , Myoblasts/physiology , Patch-Clamp Techniques , Potassium Channels, Inwardly Rectifying/genetics , Potassium Channels, Inwardly Rectifying/physiology
2.
Neuroscience ; 154(4): 1467-76, 2008 Jul 17.
Article in English | MEDLINE | ID: mdl-18515013

ABSTRACT

Our recent study has shown that activation of transient receptor potential A1 channel (TRPA1) by pungent chemicals such as allyl-isothiocyanate (AITC) requires an unidentified cytosolic factor whose action can be mimicked by inorganic polyphosphates. Thus, AITC and other pungent chemicals fail to activate TRPA1 in excised patches. It is unclear whether TRPA1 switches to a conformation that is insensitive to the pungent chemicals, or whether TRPA1 simply becomes completely non-functional and insensitive to all activators when the cytosolic factor is absent. To help distinguish between these possibilities, the effects of Delta(9)-tetrahydrocannabinol (THC) and Ca(2+) that are structurally different from pungent chemicals were tested on AITC-sensitive and AITC-insensitive states of TRPA1. In HeLa cells transiently expressing mouse TRPA1, activation of TRPA1 by THC was slow and weak from the extracellular side (cell-attached; K(1/2) >20 microM), but was faster and more potent from the intracellular side (inside-out; K(1/2), approximately 0.7 microM), and this did not require the presence of a polyphosphate. Similar results were observed in rat trigeminal neurons. Increasing the extracellular [Ca(2+)] from approximately 0-1-3 mM activated TRPA1 in cell-attached patches. Elevation of cytosolic [Ca(2+)] using thapsigargin (inhibitor of Ca(2+)-ATPAse) and histamine (that elevates IP(3)) also activated TRPA1 in cell-attached patches. Similar to pungent chemicals, Ca(2+) (1-5 microM) failed to activate TRPA1 in inside-out patches, unless polyphosphates were present. These results show that TRPA1 can exist in different functional states: a native state (cell-attached patch) and a non-native state (excised patch). THC can activate TRPA1 even in the absence of polyphosphates, whereas pungent chemicals and Ca(2+) require it for activation.


Subject(s)
Calcium/pharmacology , Dronabinol/pharmacology , Hallucinogens/pharmacology , Plant Oils/pharmacology , Transient Receptor Potential Channels/metabolism , Animals , HeLa Cells , Humans , Membrane Potentials/physiology , Mice , Mustard Plant , Neurons/drug effects , Neurons/metabolism , Patch-Clamp Techniques , Rats
3.
Am J Dermatopathol ; 23(2): 139-42, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11285410

ABSTRACT

The intimate association of nevomelanocytic nevi with eccrine ducts commonly seen in congenital nevi was emphasized by Mishima, who described as eccrine-centered nevi those lesions characterized by nevomelanocytic cells predominantly proliferating around and within the eccrine sweat duct walls. However, there were no changes in the overlying epidermis, dermis, or eccrine acrosyringeal or dermal duct proliferation in these lesions. We present the case of a 16-year-old boy with a 1-year-history of a 0.6-cm diameter single tan papule on the right heel, clinically thought to be a Spitz nevus. Histopathologic examination revealed a compound nevomelanocytic nevus associated with epidermal hyperplasia, thin anastomosing cords of acrosyringeal epithelium extending within the dermis, and eccrine ductal proliferation in a syringoma-like pattern associated with a dense fibrous stroma. Features that distinguish our case from eccrine-centered nevus are that the latter lacks epidermal and eccrine duct hyperplasia and a dense fibrous stroma. The location of the lesion on the heel in our case suggests the possibility that the pathologic changes observed could result from repetitive trauma.


Subject(s)
Adenoma, Sweat Gland/pathology , Eccrine Glands/pathology , Fibroma/pathology , Nevus, Pigmented/pathology , Sweat Gland Neoplasms/pathology , Adenoma, Sweat Gland/chemistry , Adolescent , Biomarkers, Tumor/analysis , Eccrine Glands/chemistry , Fibroma/chemistry , Humans , Hyperplasia/pathology , Immunoenzyme Techniques , Male , Neoplasms, Multiple Primary/pathology , Nevus, Pigmented/chemistry , Sweat Gland Neoplasms/chemistry
4.
Int Surg ; 86(1): 42-8, 2001.
Article in English | MEDLINE | ID: mdl-11890339

ABSTRACT

Postoperative infection has influence on costs, quality of life, and outcome of the disease. It is suspected that post-total laryngectomy infections have increased in frequency and seriousness, because of the failure of the preservation protocol or the previous radiotherapy, making rescue surgery necessary. The objective of this study was to develop a predictive model of infection based on the pre- and intrasurgical variables considered risky. One hundred fifty five patients with E III-IV laryngeal cancer, with 24.8:1 male to female ratio (mean age, 58 years) who underwent total laryngectomy were evaluated for uni- and multivariate analysis of age, sex, histological grade, primary or recurrent disease, tobacco, alcohol, diabetes, tuberculosis/chronic emphysema, red and white cell counts, erythrosedimentation rate (ESR), albumin, chemotherapy, neck radiotherapy and/or previous surgery, confinement days, type and time of surgery, which were factors in the infection event. A predictive model of infection was developed and included albuminemia (<3.5 g%), >1 liter of alcohol daily, and exclusive surgery of the primary. The sensitivity was 90.5% and the specificity 68%. The variance reached 29.6%. The causes of infection were multiple, having analyzed only 30% of them. However, the resulting model was classified correctly in 83.2% of cases. A careful preoperative assessment, an adjusted planning of the surgery, an appropriate use of antibiotics, and a meticulous operative technique are needed to prevent infection.


Subject(s)
Laryngeal Neoplasms/surgery , Laryngectomy , Surgical Wound Infection/etiology , Adult , Aged , Aged, 80 and over , Chi-Square Distribution , Female , Humans , Intraoperative Period , Length of Stay/statistics & numerical data , Logistic Models , Male , Middle Aged , Predictive Value of Tests , ROC Curve , Risk Factors , Sensitivity and Specificity , Surgical Wound Infection/mortality , Surgical Wound Infection/prevention & control
5.
Acta Otorrinolaringol Esp ; 51(4): 348-52, 2000 May.
Article in Spanish | MEDLINE | ID: mdl-10984960

ABSTRACT

A new solitary extramedullary plasmacytoma of nasal localization meeting the conditions for definition is reported. The patient was treated with surgery and irradiation, which controlled the disease and produced excellent cosmetic results. The bibliography is reviewed and the pathologic, clinical, and evolutive characteristics are discussed.


Subject(s)
Nose Neoplasms/diagnosis , Plasmacytoma/diagnosis , Antibodies, Monoclonal/immunology , Combined Modality Therapy , Humans , Male , Middle Aged , Nose/diagnostic imaging , Nose/pathology , Nose/surgery , Nose Neoplasms/immunology , Nose Neoplasms/therapy , Plasmacytoma/immunology , Plasmacytoma/therapy , Tomography, X-Ray Computed
6.
Acta otorrinolaringol. esp ; 51(4): 348-352, mayo 2000. ilus
Article in Es | IBECS | ID: ibc-8022

ABSTRACT

Se agrega a la literatura un nuevo caso de plasmocitoma solitario extramedular de localización nasal, el cual cumple con los requisitos de su definición. El enfermo fue tratado con cirugía + radioterapia, habiéndose logrado el control clínico de la enfermedad y un excelente resultado cosmético. Se aprovecha el caso para realizar una revisión bibliográfica y consideraciones sobre sus características patológicas, clínicas y evolutivas (AU)


A new solitary extramedullary plasmacytoma of nasal localization meeting the conditions for definition is reported. The patient was treated with surgery and irradiation, which controlled the disease and produced excellent cosmetic results. The bibliography is reviewed and the pathologic, clinical, and evolutive characteristics are discussed (AU)


Subject(s)
Middle Aged , Male , Humans , Plasmacytoma/diagnosis , Antibodies, Monoclonal , Combined Modality Therapy , Nose Neoplasms/diagnosis , Tomography, X-Ray Computed , Nose
7.
Opt Lett ; 22(10): 673-5, 1997 May 15.
Article in English | MEDLINE | ID: mdl-18185624

ABSTRACT

We present the results of amplification of the phase-conjugate reflectivity in an absorptive nonlinear Kerr medium by nondegenerate four-wave mixing. The influence of two-beam coupling on the phase-conjugate signal is observed and analyzed. The frequency domain response of nondegenerate four-wave mixing produces a tunable narrow-band optical filter.

9.
Semin Surg Oncol ; 3(4): 215-27, 1987.
Article in English | MEDLINE | ID: mdl-3481106

ABSTRACT

A retrospective analysis is made of 61 patients with clinical and histological diagnosis of pure sarcomas of the jaw treated between 1950 and 1984. Surgery was the treatment of choice in 41 cases. Biopsy or palliative treatment were undertaken in the remaining patients. Twenty-four cases relapsed before 12 months, and 12 relapsed before 3 years. Twenty-four died before 12 months, nine before 2 years, and three after 2 years. At present there is no evidence of disease in eight patients: three out of 25 fibrosarcomas (one more than 1 year, one more than 13 years, and one more than 14 years), three out of 15 chondrosarcomas (one more than 1 year, one more than 13 years, and one more than 14 years), and two out of 15 osteosarcomas (one more than 18 years). The prognosis is gloomy. However, an early diagnosis and radical surgery contribute to an improvement in the course of the disease.


Subject(s)
Chondrosarcoma/therapy , Fibrosarcoma/therapy , Jaw Neoplasms , Myxosarcoma/therapy , Osteosarcoma/therapy , Sarcoma/therapy , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Chondrosarcoma/diagnosis , Chondrosarcoma/surgery , Female , Fibrosarcoma/diagnosis , Fibrosarcoma/surgery , Fibrous Dysplasia of Bone/pathology , Humans , Jaw Neoplasms/diagnosis , Jaw Neoplasms/surgery , Jaw Neoplasms/therapy , Male , Middle Aged , Myxosarcoma/diagnosis , Myxosarcoma/surgery , Osteosarcoma/diagnosis , Osteosarcoma/surgery , Prognosis , Retrospective Studies
10.
J La State Med Soc ; 138(2): 15-6, 21, 1986 Feb.
Article in English | MEDLINE | ID: mdl-3950591
12.
J La State Med Soc ; 137(5): 28-9, 1985 May.
Article in English | MEDLINE | ID: mdl-4020355
16.
Int Adv Surg Oncol ; 7: 373-97, 1984.
Article in English | MEDLINE | ID: mdl-6469378

ABSTRACT

This report covers the authors' experience during 19 years with patients at Buenos Aires Municipal School of Oral, Cervical, and Thyroid Surgery at Rawson Hospital; at the Municipal Hospital of Oncology; and in their private practice. During this period, 165 patients underwent surgery for thyroid cancer. An analysis is made of the surgical treatments chosen, the different histological types encountered, and the lymph node and radical neck dissections performed. The advantages and drawbacks of total thyroidectomy, as well as the survival rates, are commented upon.


Subject(s)
Thyroid Neoplasms/surgery , Thyroidectomy/methods , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Lymph Node Excision , Male , Mediastinal Neoplasms/secondary , Mediastinal Neoplasms/surgery , Middle Aged , Neck Dissection , Postoperative Complications/therapy , Thyroid Neoplasms/diagnosis
17.
18.
Rev. argent. cir ; 44(3/4): 134-41, 1983.
Article in Spanish | LILACS | ID: lil-14497

ABSTRACT

Se presenta la casuistica desde 1962 hasta 1981 periodo en el cual se atendieron 2159 pacientes, con tiroideopatias y se operaron 1200 casos. De estos ultimos el 2,08% o sea 45 enfermos, correspondieron a bocios penetrantes, sumergidos y cervicotoracicos, de los cuales solo 15 (0,69%), se ajustan a la definicion propuesta en el tratabjo. Se hacen consideraciones de orden epidemiologico, clinico y diagnostico, se proponen las pautas referidas a la tactica y tecnica operatoria de estos casos


Subject(s)
Adult , Middle Aged , Humans , Male , Female , Goiter, Substernal , Thyroidectomy
19.
Rev. argent. cir ; 44(3/4): 134-41, 1983.
Article in Spanish | BINACIS | ID: bin-35108

ABSTRACT

Se presenta la casuistica desde 1962 hasta 1981 periodo en el cual se atendieron 2159 pacientes, con tiroideopatias y se operaron 1200 casos. De estos ultimos el 2,08% o sea 45 enfermos, correspondieron a bocios penetrantes, sumergidos y cervicotoracicos, de los cuales solo 15 (0,69%), se ajustan a la definicion propuesta en el tratabjo. Se hacen consideraciones de orden epidemiologico, clinico y diagnostico, se proponen las pautas referidas a la tactica y tecnica operatoria de estos casos


Subject(s)
Adult , Middle Aged , Aged , Humans , Male , Female , Goiter, Substernal , Thyroidectomy
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