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At least 1,351 records · Page 75Linked to original sources
PubMed2002

Gigantic cutaneous horns of the scalp: lesions with a gross similarity to the horns of animals: a report of four cases.

Gigantic cutaneous horns, grossly similar to the horns seen in animals, are exceedingly rare in humans. After finding one case in practice, we searched our departmental files for similar cases and examined them grossly and microscopically. Four cases were identified. All occurred as solitary lesions in older women on the parietal-occipital region of the scalp. They had a growth history of up to 30 years; the women hid these horns in their hair. Grossly, the horns were yellow-grey, and there were shallow furrows running along the length of the horns. The length ranged from 17 to 25 cm, and the width was up to 2.5 cm. All four lesions showed similar histologic changes. Microscopically, the gigantic horns consisted of a mixture of squamous epithelial cells and tricholemmal keratinized debris. In one case the base of the horn was directly connected with a mass composed of benign tricholemmal cysts of the scalp. Mitoses were common, but atypical mitoses were not observed. The nuclei of the squamous cells were bland without pleomorphism, hyperchromasia, or atypia. Follow-up of all patients was uneventful: all patients were well and without signs of recurrence or metastasis 2-15 years after the surgical excision. Gigantic cutaneous horns are rare and benign. We think that they represent an extremely well-differentiated variant of proliferating tricholemmal tumor with an unusual and remarkable gross pattern.

Aged↗
PubMed1994

A case of bullous transient acantholytic dermatosis.

We report a case of a bullous variant of transient acantholytic dermatosis in a 59-year-old female. Each bullous lesion lasted several weeks and healed without scarring. The lesions were migratory and recurrent without a cleared period. Histopathologic examination revealed an intraepidermal vesicle low in the epidermis. The lesions cleared after 2 months of isotretinoin therapy.

Epidermolysis Bullosa↗
PubMed2006

'Simplification' of responses of complex cells in cat striate cortex: suppressive surrounds and 'feedback' inactivation.

In mammalian striate cortex (V1), two distinct functional classes of neurones, the so-called simple and complex cells, are routinely distinguished. They can be quantitatively differentiated from each other on the basis of the ratio between the phase-variant (F1) component and the mean firing rate (F0) of spike responses to luminance-modulated sinusoidal gratings (simple, F1/F0 > 1; complex, F1/F0 < 1). We investigated how recurrent cortico-cortical connections affect the spatial phase-variance of responses of V1 cells in the cat. F1/F0 ratios of the responses to optimally oriented drifting sine-wave gratings covering the classical receptive field (CRF) of single V1 cells were compared to those of: (1) responses to gratings covering the CRFs combined with gratings of different orientations presented to the 'silent' surrounds; and (2) responses to CRF stimulation during reversible inactivation of postero-temporal visual (PTV) cortex. For complex cells, the relative strength of the silent surround suppression on CRF-driven responses was positively correlated with the extent of increases in F1/F0 ratios. Inactivation of PTV cortex increased F1/F0 ratios of CRF-driven responses of complex cells only. Overall, activation of suppressive surrounds or inactivation of PTV 'converted' substantial proportions (50 and 30%, respectively) of complex cells into simple-like cells (F1/F0 > 1). Thus, the simple-complex distinction depends, at least partly, on information coming from the silent surrounds and/or feedback from 'higher-order' cortices. These results support the idea that simple and complex cells belong to the same basic cortical circuit and the spatial phase-variance of their responses depends on the relative strength of different synaptic inputs.

Action Potentials↗
PubMed2002

Cervical intramedullary gliofibroma in a child: a case report and review of the literature.

A rare case of intramedullary gliofibroma in a 12-year-old girl is reported. MRI revealed an intramedullary tumor with two different intensities, and these portions showed different staining patterns after gadolinium contrast enhancement, with faint enhancement at the periphery and strong enhancement in the central portion. Intraoperatively, the tumor had a relatively clear margin to the spinal cord and was composed of two portions of different consistencies, one soft in the periphery and the other elastic and firm in the central portion. This tumor was grossly, totally removed. The patient made a full recovery and there was no recurrence 2 years and 9 months after operation. There have only been 7 previous case reports of spinal intramedullary gliofibroma. Gliofibroma is usually a relatively benign astroglial variant. Recognition of such a variant is clinically important in considering the extent of the operation and postoperative adjuvant therapy.

Astrocytoma↗
PubMed1987

Management of primary intracranial germ cell tumors of childhood.

Primary CNS germ cell tumors present several biologic and therapeutic concerns. Their predilection to midline locations (pineal and suprasellar) has discouraged until recently attempts at biopsy, much less radical surgical resection. Their heterogeneity (germinomas, embryonal carcinoma, endodermal sinus tumor, choriocarcinoma and malignant teratoma) has made uniform treatment planning unrealistic. Their rarity (less than 50 cases per year in USA) precludes a large institutional experience. More recently, with the use of microsurgical techniques, major resections are possible and accurate pretreatment histologic diagnosis can be established. Following surgery, patients should be staged with cerebrospinal fluid (CSF) cytology, serum and CSF tumor markers (alpha-fetoprotein and human beta-chorionic gonadotrophin) and myelography. The majority of patients will present with disseminated disease and require craniospinal radiotherapy. Chemotherapy should eventually prove to be an effective adjuvant treatment modality, not only for the highly radiosensitive germinoma with a good prognosis (5-year survival greater than 60%) following radiotherapy alone, but also for the radioinsensitive nongerminoma germ cell variants where longterm survival is unusual. Chemotherapy agents such as cyclophosphamide, cisplatin, vinblastine, VP-16 and bleomycin appear to be useful for patients with newly diagnosed and recurrent disease.

Adolescent↗
PubMed2000

[Medulloblastomas: clinical, epidemiological and pathological findings in 28 cases].

We report the clinical, epidemiological and pathological findings of 28 patients with medulloblastoma: 22 were male; age ranged from 1 to 50 years, with a mean of 15 years. The most frequent symptoms and signs were headache (64%) and vomiting (64%). Only one patient showed a desmoplastic medulloblastoma variant, the others showed classical medulloblastomas. Regarding treatment, most patients were submitted to total resection (n=10) or partial tumorectomy (n=7). A low rate of tumoral recurrence was observed, occurring in 21% of the patients (n=6) after 4 years of follow-up. Chemotherapy seemed to contribute to a lower recurrence rate amongst our patients. Our findings are similar to those reported in literature, thus helping to understand the biological behavior of this type of tumor.

Adolescent↗
PubMed1993

Verrucous carcinoma of the bilharzial bladder. Impact of invasiveness on survival.

Verrucous carcinoma of bilharzial bladder, a rare neoplasm, is regarded as a distinct variant of squamous cell carcinoma. We studied 37 cases treated with cystectomy in the past 15 years. Despite previous reports of no local invasion and no local recurrence or distant metastasis postoperatively, we observed 60% of focal tumour transformation into invasive squamous cell carcinoma. Such transformation and dedifferentiation to squamous cell carcinoma can be expected in a high proportion of these tumours. The survival rate in the invasive cases was approximately the same as in squamous cell carcinoma. Non-surgical management or adjuvant treatment to surgery are inappropriate in verrucous bladder carcinoma. Radical cystectomy is the only standard treatment offering cure.

Adult↗
PubMed2002

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.

Heteroduplex screening identified 74 small mutations in the factor VIII genes of 72 families with hemophilia A. In addition, patients from 3 families with high titer inhibitors had partial gene deletions and 5 unrelated families that were negative for heteroduplex formation had a mutation on direct sequencing. The latter had mild hemophilia A with an inhibitor, and sequencing their exon 23 fragments found a transition predicting a recurrent Arg2150 to His. Of 69 distinct mutations (including the 3 partial gene deletions), 47 are novel. Of small mutations, 51 were missense (one possibly a normal variant and two that could also alter splicing) at 39 sites, 13 were small deletions or insertions (3 inframe and one a normal variant in an intron), 13 were nonsense at 12 sites and 2 altered intron splice junctions. In 24 families, at least one affected member had evidence for an alloimmune response to factor VIII: of these, 11 were associated with missense mutations. In 14 families, de novo origin was demonstrated.

Alternative Splicing↗
PubMedDate not supplied

[Anatomical bases of incomplete vagotomy].

The results are presented, of an intraoperative anatomical study concerning the variable disposition of the vagal nerves in the abdominal section of the oesophagus. This study was carried out in a large number of patients with ulcers in which vagotomy was performed. All the patients were followed and in all periodical controls were made after surgery in view of detecting possible ulcerative relapses. The authors conclude that the negative results of vagotomy are due to the fact that this is usually incomplete. The study demonstrated the existence of many variants of the anatomical disposition of the vagal nerves at the level of the abdominal oesophagus, which the authors synthesize in a practical scheme which is available to any surgeon. The risk of an incomplete vagotomy is the highest when the patient presents an anatomical variant with a large number of branches.

Humans↗
PubMed2003

[Treatment of calculous cholecystitis and its complications].

Results of treatment of 10,724 patients with different forms of acute and chronic cholecystitis are analyzed. Surgical treatment was performed in 7819 (72.9%) patients. Variants of treatment of acute and chronic cholecystitis are presented. Typical cholecystectomy is the basic surgery in patients with acute calculous cholecystitis (63% procedures). Laparoscopic cholecystectomy (LCE) was performed in 37% patients. Two-stage surgeries with previous microcholecystostomy (MCS) and endoscopic papilloshincterotomy (EPST) are indicated in late hospitalization of patients with intoxication and severe concomitant diseases. They permit to prepare patients for cholecystectomy and to decrease scope of surgery. In cholelithiasis and jaundice EPST and MCS are indicated for almost all patients as a preliminary procedure before surgery on the biliary tract and cholecystectomy. This two-stage variant permitted to reduce postoperative lethality from 9.7 to 1.6%. In chronic cholecystitis LCE is the main type of surgery with minimal postoperative lethality. For patients with recurrent calculous cholecystitis, frequent exacerbations, severe concomitant diseases EPST in choledocholithiasis and sanation of gall bladder through fistula are indicated.

Cholecystectomy↗
PubMed1989

Inhibition of herpes simplex virus type 1 (HSV-1) plaque enlargement by neutralizing sera.

The inhibitory activity of neutralizing sera on Herpes simplex virus type 1 (HSV-1) plaque enlargement (PE) is easily detected using the S variant of low passage clinical isolates (Mannini-Palenzona et al., 1985b; Costanzo et al., 1986). The same sera show little or no activity on PE of the product of the S variant rapid in vitro conversion, the L variant, and laboratory strains HSV-1 (F) and (MP). No significant difference was found in the inhibitory activity of sera from healthy individuals with no history of recurrence and patients with recurrences.

Adult↗
PubMed1996

Case report: recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52 year old man.

The present report describes a Chinese male who presented for the first time with recurrent encephalopathy and hyperammonaemia at the age of 52 years. He was found to have citrullinaemia. To our knowledge, this is the first Chinese with citrullinaemia and the first non-Japanese who has the variant form of presentation. The patient also has the longest asymptomatic period for citrullinaemia so far described. The patient's biochemical derangement, clinical features and the postulation of his late presentation are discussed. It is noteworthy that simple therapeutic measures, such as lactulose and dietary protein restriction, controlled his symptoms well.

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

Recurrent Guillain-Barré syndrome. Clinical and laboratory features.

The clinical and laboratory features of recurrent Guillain-Barré syndrome (RGBS) were reviewed in 12 patients in whom a total of 32 episodes fulfilled accepted criteria for Guillain-Barré syndrome (GBS). All patients were asymptomatic or only mildly symptomatic between attacks. In a given patient, the time to reach peak deficit from the onset of symptoms, the functional grade at peak deficit and the duration of the intervals between episodes varied considerably and unpredictably from one episode to the next. Analysis of these parameters across the entire group revealed no significant change as the number of attacks increased. The distribution of weakness varied between episodes with the possible exception of features of the Miller Fisher variant which were more constant. Tremor was noted in two patients and enlarged nerves in one patient. There was no evident response to immunosuppressive therapy. Results of cerebrospinal fluid (CSF) analysis and nerve conduction studies during recurrences were those expected in typical monophasic GBS. On nerve biopsy, onion bulb formations were sometimes observed after several recurrences. The following characteristics of RGBS may be sufficiently distinctive from those of chronic relapsing polyneuropathy to justify their nosological separation: rapid onset of symptoms with subsequent complete or near complete recovery, high incidence of an antecedent illness, lack of an apparent response to immunosuppressive therapy and normal CSF protein levels at the onset of a recurrence.

Adolescent↗
PubMed1993

Severe infectious complications in a girl suffering from atopic dermatitis were found to be due to chronic granulomatous disease.

Recently, the diagnosis of a variant form of chronic granulomatous disease (CGD) could be established in an 11-year-old girl who had been treated for atopic dermatitis for many years. In addition to severe superinfections of lesions of the skin, the following symptoms were found currently or in her history: an episode of chronic diarrhoea (suspected as lactose intolerance), an endomyocarditis, a paranephritic abscess and recurrent lymph node abscesses. This case is demonstrated to underline the importance of extensive immunologic diagnostics in situations of recurrent severe infections of the skin, especially if other organs are involved. Diagnosis and type of CGD were strongly indicated by flow cytometrical measurement of H2O2 and cytochrome b558-expression by neutrophils and confirmed by a Western blot test. No immunoreactive p47phox could be found in the patient's cells. In this autosomal recessive variant of CGD some retained ability of phagocytes to produce reactive oxygen intermediates was present. Special management of patients with CGD is necessary to prevent serious infectious complications. Genetic counselling is another important consequence of the correct diagnosis.

Child↗
PubMedDate not supplied

Aggressive chondroblastoma. Report of a case with multiple bone and soft tissue involvement.

A 14-year-old male had a recurrent chondroblastoma in his right talus which involved the right calcaneus and the soft tissue of that ankle. While the initial lesion had a typical, benign appearance, the recurrent lesion and the soft tissue nodules showed a significantly elevated mitotic rate. Although some extraosseous involvement by chondroblastomas may be secondary to soft tissue or hematogeneous seeding at the time of surgery, and aggressive variant of chondroblastoma appears to exist. Previous reports of these aggressive cases show a poor correlation between histologic appearance and biologic behavior. When objective quantitation of cytologic features such as mitotic rate are made, we believe that these features may serve as a marker for identification of those cases of chondroblastoma which have a propensity for aggressive behavior.

Adolescent↗
PubMed1990

[Clinical variants of unipolar endogenous depression].

Comparative clinico-psychopathological analysis was employed to study the structure of affective disorders in the depressive phases in monopolar (48 patients) and bipolar (25 patients) pure-affective psychosis. The clinical heteronomy of recurrent depression is demonstrated and two varieties therefore are distinguished. The potentially bipolar variety (24 patients) manifests noticeable similarity to bipolar psychosis in accordance with predominance of anergic depression, dynamics of the onset, phases and disease course on the whole. The relatively autonomous "anxiety" variety (24 patients) appeared to be unusual in nature: steadily seen anxious modality of depression, gradual onset and completion of the phases, their protracted course and lack of the discreteness traits, later onset of psychosis, frequency of the anxious-hypochondriac habits before disease. It is assumed that monopolarity is an essential trait of the morbid process in patients with the above variety.

Adult↗
PubMed1979

[Microfocal myocardial infarct as a variant of exacerbation of ischemic heart disease].

The results of long-term (3- to 4-year) follow-up of 180 patients with microfocal myocardial infarction are analysed. The difference in the course and prognosis of primary and recurrent microfocal myocardial infarction is determined. It is shown that microfocal myocardial infarction as a form of exacerbation of ischemic heart disease is characterized by a complex of syndromes differing from the typical picture of marcrofocal myocardial infarction. As compared to macrofocal myocardial infarction, the course of the disease after microfocal myocardial infarction is characterized by more frequent exacerbations of coronary insufficiency and a greater tendency toward the development of recurrent myocardial infarction. In some cases, microfocal myocardial infarction heralds the development of macrofocal myocardial infarction with a severe course and high mortality rate, which provides the grounds for the conclusion that patients with microfocal myocardial infarction have a lower coronary reserve.

Aged↗
PubMed2005

Overexpression of eCLCA1 in small airways of horses with recurrent airway obstruction.

The human hCLCA1 and murine mCLCA3 (chloride channels, calcium-activated) have recently been identified as promising therapeutic targets in asthma. Recurrent airway obstruction in horses is an important animal model of human asthma. Here, we have cloned and characterized the first equine CLCA family member, eCLCA1. The 913 amino acids eCLCA1 polypeptide forms a 120-kDa transmembrane glycoprotein that is processed to an 80-kDa protein in vivo. Three single nucleotide polymorphisms were detected in the eCLCA1 coding region in 14 horses, resulting in two amino acid changes (485H/R and 490V/L). However, no functional differences were recorded between the channel properties of the two variants in transfected HEK293 cells. The eCLCA1 protein was detected immunohistochemically in mucin-producing cells in the respiratory and intestinal tracts, cutaneous sweat glands, and renal mucous glands. Strong overexpression of eCLCA1 was observed in the airways of horses with recurrent airway obstruction using Northern blot hybridization, Western blotting, immunohistochemistry, and real-time quantitative RT-PCR. The results suggest that spontaneous or experimental recurrent airway obstruction in horses may serve as a model to study the role of CLCA homologs in chronic airway disease with overproduction of mucins.

Airway Obstruction↗