Biomedical subjects

L Sokol

Publications and source records attributed to L Sokol.

At least 19 recordsLinked to original sources

PubMed2006

Sarcomatous dedifferentiated renal cell carcinoma mimicking a severe purulent kidney infection.

Sarcomatous renal cell carcinomas (SRCCs) originate from a dedifferentiation of renal cell carcinoma (RCC). They are characterized by an aggressive course and very poor prognosis. Less known is their ability to imitate inflammatory diseases of the kidney. The aim of the study was to outline the less usual symptoms of SRCCs in a retrospective analysis of 180 patients operated for RCC in 1997-2001. In 11 (6.1%) patients (8 men and 3 women, age 40-76 years, mean age 60 years) SRCC was present. The pTNM classification, results of histological examination, the stage of RCC dedifferentiation and survival after the operation are presented. In almost every patient SRCC was diagnosed at a late stage with combined histological variants of RCC. Survival of the patients after the operation ranged from 1 to 19 (average 8.8) months. In 2 patients an atypical clinical picture imitated abscess of the kidney and calculous pyonephrosis. The authors warn that in spite of the clinical signs of inflammatory disease of the kidneys, a tumorous origin should be excluded. In doubtful cases a quick peroperative biopsy and histology should be performed. Sometimes only a definitive histological examination can reveal the tumorous origin of the disease.

Abscess↗

PubMed2006

[Epithelioid hemangioma of the foot].

Epithelioid hemangioma (angiolymphoid hyperplasia with eosinophilia, EH/ALHE) is a rare benign angioproliferative lesion which typically occurs in the region of the head and neck. In the literature, occurence on the extremity is only rarely described. A case of multiple occurence of EH/ALHE in the skin of the toes and metatarsal bone with osteolysis is reported. Occurence on the extremity, superficial and deep affection and some "atypical" microscopic features may cause diagnostic dilemma. The key diagnostic features of EH/ALHE are vascular channels lined with epithelioid endothelial cells, surrounding layer of myopericytes, absence of atypia and mitotic activity and characteristic inflammation. Immunohistochemistry may be helpful in settling the diagnosis.

Adult↗

PubMed2004

[Spindle cell and cuboidal renal cell carcinoma (loopoma). 10 case reports].

BACKGROUND: Current classification systems of neoplasms arising from renal parenchyma distinguish 5 categories of renal cell carcinoma (RCC), i.e. conventional RCC, papillary RCC, chromophobe RCC, collecting duct/medullary RCC and unclassified RCC. We present 13 cases of unusual and unclassified spindle and cuboidal renal cell carcinomas. METHODS AND RESULTS: The studied group consisted of 13 patients (7 men and 6 women). They ranged in age from 22 to 65 years (mean 57.3). Generally, the tumours were well circumscribed and confined to the kidney, whitish to grey on section with a diameter 4.5-13 cm (mean 8.6 cm). One patient was investigated for loin pain and nocturia. Three patients had staghorn nephrolithiasis and vague sonographic findings in renal parenchyma. In one patient the renal tumour was found when examined on follow-up examination for prostatic adenocarcinoma. None of our patients was known to have elevated levels of parathyroid hormone due to hyperplasia, adenoma or carcinoma of the parathyroid gland. Clinical follow-up of the patients ranged from 9 months to 8 years (mean 2.3 years). Microscopically, the tumours were composed of two main populations of cells: flattened, spindle cells with sparse cytoplasm and small cuboidal cells with clear to light eosinophilic cytoplasm. Eight patients are currently well without signs of recurrence or metastasis, one had metastasis in the regional lymph node at the time of nephrectomy, one died of unrelated cause, and three were lost to follow-up. CONCLUSIONS: We present 13 cases of unclassified RCC. Our cases were histologically, immunohistochemically and ultrastructurally similar to the hitherto reported case reports of this variant of RCC. It is obvious, that that variant of RCC should be recognised as a new subtype of RCC.

Adult↗

PubMed2004

Adrenal myelolipoma. 6 cases and a review of the literature.

Adrenal myelolipoma is an uncommon, benign and hormonally inactive tumor. Most lesions are asymptomatic and usually are discovered incidentally at autopsy studies. Authors report on 6 patients (5 women, 1 man) with adrenal myelolipomas (5 right, 1 left), analyze their morphological findings and association with an adrenal hormonal overproduction. Five of the patients underwent surgery because of tumor size, in 3 of them histological evaluation confirmed myelolipoma and in 2 cases an adrenocortical adenoma with foci of myelolipoma. All the patients were asymptomatic and in 4 cases hormonal overproduction was not found. One female patient has oveproduction of dehydroepiandrosteron-sulphate (DHEAS) indicating a 3beta hydroxylase deficiency in this tumor and 1 patient has primary aldosteronism with a histological finding of an association of adrenocortical adenoma with foci of myelolipoma. Neither Cushings syndrome nor congenital adrenal hyperplasia were present in our group of patients.

Adrenal Cortex↗

PubMed2004

Perineurial cells and nerve axons in gastrointestinal schwannomas: a similarity with neurofibromas. An immunohistochemical study of eight cases.

Gastrointestinal schwannoma (GIS) is a distinctive and extremely rare lesion showing some differences from conventional soft tissue schwannoma and some similarities with common soft tissue neurofibroma. Soft tissue neurofibromas and schwannomas differ by contents of specific types of nerve sheath cells, such as Schwann cells, perineurial cells and CD34+ cells. To compare GIS with these soft tissue lesions, eight cases of typical GIS were studied immunohistochemically to evaluate their nerve sheath cell types. Epithelial membrane antigen (EMA) and claudin-1 as perineurial cell markers, and neurofilament protein as a marker for intratumoral axons were used. In addition, the tumors were stained for cytokeratin, CD117 (C-KIT), alpha-muscle specific actin, S100 protein and CD34. EMA- and claudin-positive cells were seen in 2 (25%) and one lesion, respectively, thus resembling cellular composition of neurofibroma. Intratumoral neurofilament protein positive axons otherwise typical of neurofibroma were found inside 4 tumors (50%). CD34 positivity was found in 6 tumors (75%) and often revealed a diffuse pattern as seen in neurofibroma and not a zonal pattern as described in schwannomas. These results show that GIS has some features that are more typical for neurofibroma than for conventional schwannoma. In surgical pathology practice, a finding of intratumoral axons and positivity for claudin-1 and especially for EMA should not preclude diagnosis of GIS.

Adult↗

PubMed2002

Spindle and cuboidal renal cell carcinoma, a tumour having frequent association with nephrolithiasis: report of 11 cases including a case with hybrid conventional renal cell carcinoma/ spindle and cuboidal renal cell carcinoma components.

AIMS: We present the largest series of an unclassified subtype of renal cell carcinoma, which seems to be a distinct morphological entity and which is sometimes designated as spindle and cuboidal renal cell carcinoma. METHODS AND RESULTS: Eleven cases of spindle and cuboidal renal cell carcinoma were found among 7000 primary renal cell tumours in Pilsen's routine and consultation files. The patients were five men and six women. They ranged in age from 22 to 65 years (mean 56.8). Microscopically, the tumours were composed of two main populations of cells. First, the preponderant type of cells was formed by flattened, spindle cells with sparse cytoplasm. The second cell type was a small cuboidal cell with clear to light eosinophilic cytoplasm. Spindle-shaped cells were arranged in a fascicular pattern often reminiscent of low-grade smooth muscle tumours. Solid areas of spindle cells were also present. Small cuboidal cells formed sparse tubular structures lined by a row of single cells. In addition to all previous published cases of spindle and cuboidal renal cell carcinoma we observed an association of nephrolithiasis in our cases. It was seen in 3/11 of our patients. A previously unreported feature is the occurrence of a conventional renal cell carcinoma component in one of our cases. Seven of our patients are currently well without signs of recurrence or metastasis, one had metastasis in a regional lymph node at the time of nephrectomy, one died of an unrelated condition, and two were lost to follow-up. CONCLUSIONS: We present 11 cases of spindle and cuboidal renal cell carcinoma, which is believed to be a distinctive morphological entity. Our cases were histologically, immunohistochemically and ultrastructurally similar to the previously reported cases of spindle and cuboidal renal cell carcinoma. In contrast to all previously reported cases of spindle and cuboidal renal cell carcinoma, we observed an association with nephrolithiasis in three of our cases; moreover, one of our tumours had a conventional renal cell carcinoma component and another revealed a metastatic focus in a regional lymph node. None of our patients died of the disease. This study confirms that spindle and cuboidal renal cell carcinoma has a low malignant potential.

Adult↗

PubMed2001

Using data mining to find fraud in HCFA health care claims.

Data mining can be/used to detect health care fraud and abuse through visualization of very large data sets to isolate new and unusual patterns of activity. Data mining has allowed better direction and use of health care fraud detection and investigative resources by recognizing and quantifying the underlying indicators of fraudulent claims, fraudulent providers, and fraudulent beneficiaries. A large amount of work must be performed prior to the actual data mining. These precursory tasks include: customer discussions, data extraction and cleaning, transformation of the database, and auditing (basic statistics and visualization of the information) of the data. This paper describes the tasks performed in support of a project for HCFA (Health Care Financing Administration).

Centers for Medicare and Medicaid Services, U.S.↗

PubMed2000

[Hormonal and morphologic characteristics of adrenal incidentalomas].

The authors analyse hormonal and morphological characteristics of adrenal incidentalomas, i.e. pathological adrenal masses accidentally found on CT scan performed due to extraadrenal causes of other causes of adrenal pathology. The group of patients was consisted by 42 patients at the age 24-79 years (27 females and 15 males). The most frequent clinical symptoms included arterial hypertension, diabetes mellitus and obesity. CT examinations revealed 36 cases of unilateral lesions (in 21 cases the lesions were localised on the right and in 15 cases on the left) and 6 bilateral lesions. The size of adrenal masses ranged from 7 mm to 12 cm. The CT examination helped in characterising myelolipomas in 3 cases, cysts in two cases, and pre-assuming malignity in 6 cases. Hormonal analyses have revealed primary aldosteronism in 2 cases, subclinical hypercortisolism in 1, steroid enzymopathy in 2 and secondary hyperaldosteronism in 2 patients. No patient had catecholamine overproduction. 19 patients were indicated for adrenalectomy with the following histological findings.: adenoma (n = 5), cyst (n = 2), myelolipoma (n = 3), carcinoma (n = 3), feochromocytoma, ganglioneuroma, metastases, lymphoma, sarcoidosis and pseudodrenal structure--Gravitz tumor (n = 1, respectively). The size of all neoplasms exceeded 3 cm, therefore the authors recommend adrenalectomy in incidentalomas with hormonal activity exceeding 3 cm in size. (Tab. 2, Fig. 1, Ref. 17.)

Adrenal Gland Diseases↗

PubMed1999

[Incidence of primary hyperaldosteronism in hospitalized patients with hypertension].

AIMS: To detect the incidence of primary hyperaldosteronism (PH) in hospitalized hypertensive patients. METHODS: Authors assessed plasma renin activity (PRA) and plasma aldosterone (PA) in 100 patients with arterial hypertension hospitalized at the II. department of Internal medicine in Kosice because of resistance to ambulatory treatment, eventually with the aim of differential diagnosis of arterial hypertension. RESULTS: From 100 hypertensive patients 90 (90%) have had essential hypertension (EH), 8 (8%) PH, 2 (2%) renovascular hypertension and 1 patient (1%) pheochromocytoma. Aldosterone-renin ratio was in PH patients 10-fold higher comparing with EH patients. From the 8 patients with PH 4 have had adenoma and in 3 patients hyperplasia was diagnosed with the use of CT or histology, 1 case was idiopathic hyperaldosteronism without CT hyperplasia evidence. In all PH patients the level of kalemia was less than 4 mmol/l, i.e. kalemia 4.0 mmol/l has 100% sensitivity for PH detection. CONCLUSION: Introduction of PRA and PA examinations in the diagnostic process of arterial hypertension led to more frequent diagnosis of PH, which may probably represent the most frequent form of endocrine hypertension. Although ARR is a reliable test for PH screening, routine ARR examinations in ambulatory practice are technically complicated and connected with high costs. Increasing the threshold level of kalemia for PH detection led to higher sensitivity and that is why the authors consider ARR examination rational in every patient with kalemia level less than 4 mmol/l. (Tab. 4, Ref. 18.)

Adult↗

PubMed1999

[Primary hepatosplenic T-cell (gamma delta) lymphoma: morphology and immunohistochemistry in 3 cases].

We analyzed one autopsy case and two biopsy cases of primary (hepato-)splenic lymphoma, diagnosed in numerous trephine bone marrow, spleen and liver biopsies. It is a distinctive "new" type of a rare T-cell lymphoma characterized usually by rearrangement of gamma delta chains of T-cell receptor. Morphologically, the lymphoma is composed of a cytologically monotonous proliferation of small to medium sized lymphocytes, with diagnostically characteristic intrasinusoidal spread in the bone marrow, spleen and liver. The involvement of the lymph nodes is always absent. Immunohistochemically, the tumor cells expressed constant CD3 positivity and negativity for B- and myelomonocytic antigens, together with an inconstant coexpression of CD43 and CD45RO. In contrast to other and more common primary B-cell splenic lymphomas, its biological behaviour is more aggressive.

Adult↗

PubMed1998

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.

Primary familial and congenital polycythemia (PFCP or familial erythrocytosis) is a rare proliferative disorder of erythroid progenitor cells, characterized by elevated erythrocyte mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence. A number of EPO receptor (EPOR) mutations were found in subjects with PFCP; most of these mutations resulted in the truncation of the COOH-terminal of the EPOR protein. We studied a family with autosomal dominant inheritance of PFCP in which four subjects were affected in three generations. We screened the affected individuals for EPOR gene mutations using SSCP analysis and found a C5964G mutation in exon VIII that changes tyrosine codon 426 to a translation termination codon resulting in an EPOR protein truncated by 83 amino acids. The mutant C5964G-EPOR exhibited hypersensitive EPO-dependent proliferation compared to the wild-type EPOR when tested in a murine interleukin-3-dependent myeloid cell line (FDC-P1). We also examined the segregation of the mutation with PFCP in the family and found that a child in the third generation inherited the mutation without having laboratory evidence of polycythemia. Further in vitro analysis of the erythroid progenitor cells of this affected child revealed that the progenitor cells were hypersensitive to EPO (a hallmark of PFCP) suggesting the presence of the disease at the level of progenitor cells. Failure of this child to develop polycythemia suggests the existence of as yet unidentified environmental or genetic factors that may suppress disease development.

Adult↗

PubMed1998

Aldosterone-producing adenoma associated with foci of myelolipoma.

The simultaneous occurrence of adrenal myelolipoma and endocrine disorders is rare. Myelolipomas have occasionally been found in patients with Cushing's syndrome, pheochromocytoma and hyperthyroidism. A recently published study described one well-documented case of adrenal adenoma and myelolipoma in a patient with Conn's syndrome. In this report the patient had a one-year history of treated hyperthyroidism and diagnosed aldosterone-producing adenoma. A disseminated adrenal myelolipoma was found within the adrenocortical adenoma. To our knowledge this histological finding has not been previously reported in association with both Conn's syndrome and hyperthyroidism.

Adenoma↗

PubMed1997

Congenital polycythemia in Chuvashia.

Familial and congenital polycythemia, not due to high oxygen affinity hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in the Chuvash population of the Russian Federation. Hundreds of individuals appear to be affected in an autosomal recessive pattern. We studied six polycythemic Chuvash patients <20 years of age from unrelated families and 12 first-degree family members. Hemoglobins were markedly elevated in the index subjects (mean +/- standard deviation [SD] of 22.6 +/- 1.4 g/dL), while platelet and white blood cell counts were normal. Although performed in only three of the index subjects, serum erythropoietin concentrations determined by both radioimmune and functional assays were significantly higher in polycythemic patients compared with first-degree family members with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2 erythropoietin gene polymorphism showed that one polycythemic subject was a heterozygote, suggesting the absence of linkage of polycythemia with the erythropoietin gene, assuming autosomal recessive inheritance. Polymerase chain reaction (PCR) amplification of the GGAA and GA minisatellite polymorphic regions of the erythropoietin receptor gene showed no evidence of linkage of phenotype with this gene. We conclude that Chuvash polycythemia may represent a secondary form of familial and congenital polycythemia of as yet unknown etiology. This condition is the only endemic form of familial and congenital polycythemia described.

Adolescent↗

PubMed1997

Actinomycosis of the urachus persistens penetrating into the ileum.

A 16-year-old boy is presented with the problem of free micturition, having a palpable, painless tumour spreading from the symphysis to the umbilicus. Cystoscopy revealed an impression in the vertex of the urinary bladder covered by the inflamed mucous membrane with a bulbar oedema. Fistulography showed transitional urachus persistens communicating with the terminal loops of the ileum. During surgery, a solid, fan-like fibrous connective tissue was removed, together with the vertex of the urinary bladder and peritoneum. Adhering loops of the terminal ileum were sharply separated and sutured. Histopathological examination confirmed actinomycosis of the urachus persistens penetrating into the ileum.

Actinomycosis↗

PubMed1997

Benign polymorphous mesenchymal tumor (mesenchymal hamartoma) of soft parts. Report of two cases.

We report two cases of a previously unrecognized neoplasm, each characterized by prominent lobular configuration in the subcutaneous tissue. Within the neoplasms were distinctive garland-shaped structures composed of glial fibrillary acidic protein (GFAP) positive cells with indistinct borders, encased in concentric loops of fine collage fibers. In some areas, the neoplastic cells were distributed in small lacunae. The extracellular space between the collagenous tissue and the cells was filled with copious myxoid matrix. One of the neoplasms also demonstrated areas with spindle cells which resembled leiomyoma. Immunohistochemistry was negative for smooth muscle actin (1A4), muscle actin (HHF35), S-100 protein, desmin, cytokeratin, KP1, and epithelial membrane antigen (EMA.) Currently, both patients are free of recurrence or metastasis 2 and 4 years after primary surgical excision. The neoplasms, which we term benign polymorphous mesenchymal tumor of soft parts (BPMT), should be distinguished from ossifying fibromyxoid tumor of soft parts, extraskeletal mesenchymal chondrosarcoma, neoplasms arising in ectopic breast tissue and mixed tumor of the skin.

Actins↗

PubMed1997

The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia.

Primary familial and congenital polycythemia (PFCP or familial erythrocytosis) is a rare hematological disorder with either autosomal-dominant inheritance or sporadic occurrence. It is characterized by an increased proliferation of erythroid precursors that results in an elevated red blood cell mass. In some of the PFCP families, the disease phenotype is associated with mutations of the erythropoietin receptor (EPOR). Mutations in other genes are likely to cause PFCP as well, but no evidence so far has been provided to support this contention. In this study, we present a family in which 6 of 15 family members were affected in three generations. We screened exon VIII of the EPOR gene for mutations and found a C-->T substitution (C6148T) in the maternal grandmother of the propositus. The mutated allele of the affected grandmother was not passed to either of her two affected children or to her one healthy child; thus, the disease phenotype was not linked to the C6148T mutation in this family. Further examination of the inheritance of the EPOR gene alleles and sequence analysis ruled out linkage between the disease phenotype and the EPOR gene; therefore, an abnormality in another gene must be the cause of PFCP in this particular family. In three affected family members tested, erythroid progenitors were hypersensitive to EPO. This in vitro behavior of the progenitors confirms the diagnosis of PFCP in these subjects. Moreover, it suggests a dominant lesion of an as-yet unidentified gene, either at the level of the EPOR-signaling pathway or another erythropoiesis-regulating pathway that may be responsible for enhanced proliferation of the erythroid progenitors.

Cells, Cultured↗

PubMed1996

Salivary gland anlage tumor. A case with widespread necrosis and large cyst formation.

We describe a case of the salivary gland anlage tumor (congenital pleomorphic adenoma). The tumor arose in the nasopharynx as a pedunculated mass. Microscopically most of the tumor contained large necrotic areas which revealed squamous cell metaplasia resulting in the formation of large cysts. This feature has never been described previously in this tumor and might lead to an erroneous diagnosis.

Adenoma, Pleomorphic↗

PubMed1996

[The clinical picture of latent hypothyroidism in women].

The authors investigated the most frequent clinical symptoms in a group of 132 women with latent hypothyroidism (mean age 40.2 years, incl. 102 women younger than 45 years). They assessed the diagnosis on the basis of an excessive TSH response after administration of 0.2 mg thyreoliberin by the i.v. route (TRH test), while the thyroxine values were normal (TSH 0 min.: 4.93 +/- 3.55, TSH after 20 min. following TRH: 39.27 +/- 18.28 mIU/ml, T4: 102.0 +/- 25.02 nmol/l). Forty-one patients (31%) had goitrectomy in the case-history. USG examination of 70 patients revealed goitre in 13 (18.6%) reduced echogenity of the thyroid gland in 20 (28.6%) and microcysts in 31 (44.2%) of the patients. Analysis of the clinical symptoms revealed manifestations of a depressive symptomatology in 56 patients (40.3%), benign mammary dysplasia in 39 patients (29%). In the subgroup of women younger than 45 years an impaired menstrual cycle was recorded in 49 (48%) and galactorrhoea in 10 patients (9.8%). After thyroid substitution (L-thyroxine 50 micrograms/day) they observed in the majority normalization of the menstrual cycle and partial improvement of depressive manifestations.

Adolescent↗