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Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement.

OBJECTIVES: To assess the application of DNA-based cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis as a primary cystic fibrosis (CF) diagnostic test in preterm and term newborns and infants for whom the quantitative pilocarpine iontophoresis test (QPIT) cannot be used. DESIGN: Retrospective survey. SETTING: DNA Diagnostic Laboratory, Children's Hospital, Boston, Massachusetts. Buccal cell DNA samples were received from inpatients, outpatients, and three neonatal intensive care units. OUTCOME MEASURE: Detection of at least 1 of 12 CFTR mutations. PATIENTS: Between November 1, 1992, and April 30, 1994, 28 newborns and infants under 12 months of age at risk for CF had CFTR DNA mutation analysis performed because a sweat chloride (SC) value could not be obtained. QPIT was either not performed (infant weight <2 kg, QPIT not available at site of hospitalization, or infant not accessible to QPIT laboratory) or was inconclusive (sweat volume <75 mg or indeterminate SC [>/=40, <60 mEq/L]). The postnatal age at time of testing ranged from 1 day to 11 months, and gestational age at birth from 25 to 40 weeks. RESULTS: Six (21%) of 28 infants with unobtainable or indeterminate QPIT had 1 or 2 CFTR mutations detected. Immediate CF diagnosis by direct detection of 2 CFTR mutations was made in 5 of these 6 patients. Definitive CF diagnosis in the infant with 1 CFTR mutation was delayed until an elevation in SC could be documented. The patients with no CFTR mutations detected had a low likelihood of CF. CONCLUSIONS: For infants in whom CF is suspected but QPIT cannot be obtained, buccal cell DNA-based CFTR mutation analysis can be used as a rapid, noninvasive primary diagnostic test. This simple mode of DNA collection may aid in the diagnosis of other inherited disorders in newborns.

Cystic Fibrosis↗

Electron microscopic observation of the transitional portion in the human eccrine sweat gland.

The transitional portion in human eccrine sweat glands was observed by transmission electron microscope (TEM). The transitional portion, consisting of columnar epithelial cells (columnar cells) and basal cells, formed a very short segment about 25 to 50 microns in length. The portion was abruptly connected to the secretory segment, and shifted to the excretory duct without marked ultrastructural changes. The columnar cells were morphologically characterized by small apical vesicles as reported in previous reports. Considering the frequency of the mitosis of the columnar cells, the transitional portion seemed to be one of the areas of cell proliferation in the gland. Basal cells were sparse in the region connecting the secretory segment, but dense near the duct. Basal cells in the secretory segment side of the transitional portion, containing thin microfilament-bundles in the infranuclear cytoplasm, were considered to be immature myoepithelial cells. On its ductal side, however, the basal cells showed morphological profiles similar to ductal peripheral cells. These findings suggest that the differentiation of myoepithelial cells occurs in the transitional portion of eccrine sweat glands.

Adult↗

Sweat gland carcinoma with multiple local recurrences: a case report.

We report a case of primary, high grade sweat gland carcinoma, a rare tumor, occurring in the skin of the left axilla. The patient, a 54-year-old man, was treated with wide surgical excision and lymph node dissection; he had developed metastatic deposits in one regional lymph node. The neoplasm relapsed locally thrice in a period of 10 years; however, distant metastases were not found. The differential diagnosis of sweat gland tumors is discussed in the present article.

Adenocarcinoma↗

[Long-term effects after surgery for hand sweating and facial blushing. Patients are satisfied in spite of troublesome side-effects].

The thoracoscopic technique has simplified surgery on the upper thoracic chain. This comparatively minimally traumatic approach has resulted in a pronounced increase in the number of procedures. The effect of ETS on severe palmar hyperhidrosis and facial blushing is very good. These conditions often cause social, professional and emotional handicaps. Side-effects, especially compensatory sweating (increased sweating on the trunk and legs), can, however, be severe. The procedure should be used only when the hyperhidrosis or facial blushing is severely detrimental to the quality of life. The expected effects, side-effects and risks for complications must be made clear before patients are accepted for ETS.

Adolescent↗

Malignant apocrine sweat gland carcinoma of the caruncle.

A 34-year-old male presented with a mass in the medial aspect of the orbit. Histological examination demonstrated a malignant apocrine sweat gland carcinoma, which we consider to be most likely derived from the caruncle. We describe the clinical, radiological and histological features, with management options and a review of the relevant literature regarding sweat gland carcinomas.

Journal Article↗

Thoracoscopic sympathetic surgery for hand sweating.

Recently, thoracoscopic surgery has been shown to be effective for the relief of hand sweating. Although it is not fatal if left untreated, the treatment aim is to improve the quality of daily life. Therefore, it is important to understand the complaints of the patient, and provide an adequate explanation regarding postoperative sequelae. Surgeons should also recognize that thoracoscopic surgery might cause problems when performed, as the general risk of surgery remains. Many patients have been helped by the procedure, as their choices in life have expanded, and satisfactory results can be obtained when indication is determined by a full examination of the patients condition. Between December 1999 and September 2002, we performed thoracoscopic sympathetic surgery in 556 consecutive patients. Five-hundred seventeen (93%) of these complained of profuse hand sweating. Based on the new concept presented, we consider that this method of operation is an effective treatment.

Ganglia, Sympathetic↗

[Establishment and development of Xuan Fu (sweat pore) Theory.]

Xuan Fu (sweat pore) theory was derived from Huangdi Nei Jing (Canon of Internal Medicine), formulated by Liu Wan-su in his Su Wen Xuan Ji Yuan Bing Shi (Pattern of Mysterious Mechanism of Pathogenesis in Plain Questions) in the Jin Dynasty, and perfected by doctors later. The article introduces the establishment and development of Xuan Fu (sweat pore) theory from its concept and function, pathology for its stasis, therapeutical principles and treatment for opening Xuan Fu, its special theory and modern exploration in its essence.

Journal Article↗

[Electron microscopic study of the human adult intraepidermal eccrine sweat duct--the formation of the intracytoplasmic cavity].

The human adult intraepidermal eccrine sweat duct (IESD) were studied by the transmission electron microscope. The formation of the intracytoplasmic cavities was demonstrated in the luminal cell of the adult IESD, and the relation between the intracytoplasmic cavities and the IESD formation was as follows. On the eccrine sweat duct ridge, these intracytoplasmic cavities enlarged, broke through the cell membrane and coalesced into the intercellular lumen. Furthermore, several intercellular lumina were merged into the intraepidermal ductal lumen. In the lower to upper squamous layers, small intracytoplasmic cavities were formed around the intraepidermal duct and were fused into the duct. Simultaneously, the contents of the intracytoplasmic cavities were discharged into the ductal lumen. Intracytoplasmic cavities in these layers were ordinarily formed and concerned in not only the reconstruction of the duct but also the secretory function. The intracytoplasmic cavities were surrounded with the same microvilli as lined the intraepidermal ductal lumen. Many clear vesicles (about 0.1 microns in diameter) were observed near the intracytoplasmic cavities, but multivesicular dense bodies (MDB) were not seen near the cavities. These vesicles were considered to participate in the formation of the intracytoplasmic cavities.

Adult↗

Management of reflex sweating in spinal cord injured patients.

Reflex sweating can be a problem for cervical spinal cord injured patients. Patient comfort and skin breakdown have been the major concerns. Five patients were studied prospectively, using a patch containing 1.5mg of scopolamine. Patches were changed every third day. Each patient was carefully monitored before and after application of the patch for signs and symptoms of anticholinergic side effects such as dizziness, blurred vision and dry mouth. Patients were also monitored for changes in patch signs before and after use, including residual urine volumes, blood pressure, heart rate, and mental status. Our study indicates that topical scopolamine successfully controlled reflex sweating in 5 patients without anticholinergic side effects.

Administration, Topical↗

The efficacy of hyperimmune serum in the treatment of sweating sickness.

Natural and experimental cases of sweating sickness were treated using a hyperimmune serum as specific treatment and hyperimmune serum combined with symptomatic and supportive treatment based on the clinicopathological changes observed in cases of sweating sickness. The treatment regimens were found to be highly effective in pigs and sheep as well as in calves, although recovery in the latter species was slower.

Animals↗

Sweat gland carcinoma in a human immunodeficiency virus-infected patient.

Eccrine (sweat gland) carcinoma is a rare form of skin cancer that may be locally destructive. It is known to recur after resection and can metastasize to regional or distant lymph nodes. There have been two reported cases in association with patients immunocompromised as the result of organ transplantation (I. Penn: Prog Allergy. 37: 259, 1986). We report here the first case of sweat gland carcinoma in a patient infected with the human immunodeficiency virus.

Acquired Immunodeficiency Syndrome↗

[Night sweats: observation on a not unusual phenomenon].

With the aid of an impressive case report, the authors describes the diagnostic clues for the understanding of sweating during the night hours. Many internistic and psychological disorders may cause heavy sweating during night hours. But also substances used by patients dietary habits as well as excessive intake of alcohol may be involved. The therapeutic approaches are numerous and are discussed at the end.

Circadian Rhythm↗

Comparative cytokeratin analysis of sweat gland ducts and eccrine poromas.

Human eccrine sweat gland ducts and benign and malignant eccrine poromas were studied for the expression of various cytokeratins (CK) and vimentin by applying immunoperoxidase and immunofluorescence microscopy to frozen or paraffin-embedded sections, and using two-dimensional gel electrophoresis and immunoblotting. In acrosyringia and dermal eccrine ducts, the luminal cells exhibited intense staining for CKs 1/10/11 and 19. The periluminal cell layers of acrosyringia contained CKs 1/10/11, while CK 5 was absent. In contrast, the basal cell layer of dermal ducts was only positive with the antibody against CK 5, i.e. a pattern resembling that seen in epidermal basal cells. CK 9 was detected only in keratinocytes peripherally surrounding acrosyringia. In benign poromas, gel electrophoresis revealed that CKs 5 and 14 were predominant, with CKs 6, 16 and 17 being minor components. At the immunohistochemical level CKs 1/10/11 and 19 could be further detected with varying frequency in scattered or clustered cells and/or duct-like structures. Occasionally, CK 9-positive cells were observed. Malignant poromas displayed a similar overall gel-electrophoretic pattern. Their immunohistochemical staining patterns were also similar to (albeit rather more variable than) those seen in benign poromas. Our results show that, with respect to their CK expression pattern, the majority of poroma cells resemble the basal cells of both the dermal ducts and the epidermis, while only minor and variable subpopulations acquire features present in ductal/acrosyringial luminal cells that would be indicative of poral differentiation. Thus, the matrix cells of poromas seem to be most closely related to basal cells located at the transition between the glandular epidermal ridge and dermal eccrine duct, being in no way analogous to the cells of the adult acrosyringium above the basal cell level.

Adenoma, Sweat Gland↗

[Cancer of the sweat glands (its clinico-morphological characteristics)].

Based on a review of the literature and the authors' own experience comprising 20 cases, clinical and histological characteristics of sweat gland cancers (SGC) are detailed. Two clinical variants of SGC are distinguished: exophytic (or exophytic-endophytic) with ulceration and endophytic (intradermal). The lapse of time between detection of a SGC and its removal generally ranges from 12 months to 2 or more years. It is shown that diagnostic and prognostic considerations warrant classifying these cancers into two groups: those arising from benign tumors and retaining their histologic and ultrastructural features (one example of such a tumor is malignant poroma) and primary cancers (e. g., mucoid adenocarcinoma). Cancers of the first group, which comprise a majority of all SGC, run a more favorable course.

Adenocarcinoma↗

[Vascular eccrine giant spiradenoma--a case report with histology and immunohistology of a rare variant of benign sweat gland tumors].

Giant vascular eccrine spiradenoma (GVES) is a rare variant of benign tumors of the sweat glands, which differs from common eccrine spiradenoma in both its size and vascularity. Clinically as well as macroscopically, this intradermal or subcutaneous encapsulated tumor might be mistaken for an angiomatous lesion or thrombosis. Histological examination reveals clearly delimited "cords" showing two types of cells, prominent blood-filled cavities and extensive hemorrhages. According to immunohistochemical findings, the epithelial cells contain cytokeratin, protein S-100 and carcino-embryonal antigen (CEA). Like the endothelial cells of vessels, some of the luminal epithelial cells also bind Ulex europaeus lectin; however, they do not show factor VIII-associated antigen.

Adenoma, Sweat Gland↗

Sweat gland carcinomas in children.

The clinicopathologic features of sweat gland carcinomas in three girls and one boy, aged 7 months to 10 years, are presented. The histologic and ultrastructural features suggested malignant clear cell acrospiromas. Rapid extensive metastases developed in two and early local recurrence in one. No obvious effect of chemotherapy was noted in disseminated disease. Wide local excision is advised because of the risk of local lymphatic infiltration.

Adenoma, Sweat Gland↗

The role of radiotherapy in the treatment of malignant sweat gland neoplasms.

Malignant sweat gland neoplasms are rare tumors. Historically, the principal mode of treatment has been local surgical excision. Eight published studies show that greater than 50% of patients develop either local tumor recurrence after surgery or regional lymph node metastases. Most patients have evidence of locoregional failure before distant metastases are detected. Three patients were recently referred to the University of Arizona Cancer Center for consideration of irradiation after resection of such tumors. In two patients, the tumor was located on the scalp and, in one patient, on the alar surface of the nose. Their ages ranged from 19 to 60 years. All underwent surgical resection followed by high-dose irradiation of the surgical bed (approximately 70 Gy) and regional lymphatic chains (approximately 50 Gy). Two patients remain disease-free at 27 and 35 months, respectively, after completion of treatment; the third died of rapidly progressive systemic metastases. A review of the literature is provided focusing on treatment success and predominant patterns of recurrence. Finally, a rational approach for evaluation of patients that might benefit from local irradiation is presented.

Adenoma, Sweat Gland↗

The evolution of sweat glands.

Mammals have two kinds of sweat glands, apocrine and eccrine, which provide for thermal cooling. In this paper we describe the distribution and characteristics of these glands in selected mammals, especially primates, and reject the suggested development of the eccrine gland from the apocrine gland during the Tertiary geological period. The evidence strongly suggests that the two glands, depending on the presence or absence of fur, have equal and similar functions among mammals; apocrine glands are not primitive. However, there is a unique and remarkable thermal eccrine system in humans; we suggest that this system evolved in concert with bipedalism and a smooth hairless skin.

Animals↗