Cystic lung disease in adult Indigenous Australians in the Northern Territory of Australia.

INTRODUCTION: Indigenous Australians have a high prevalence of chronic lung diseases. However, no previous studies have reported on cystic lung disease in an Indigenous patient cohort. METHODS: This report describes 20 adult Indigenous patients noted to have incidental lung cysts on chest computed tomography (CT) while being referred to undergo lung function tests in the Northern Territory of Australia. RESULTS: Of the total 20 Indigenous patients demonstrating presence of pulmonary cysts on chest CT scan, 13/20 (65%) were males with a mean age of 49.9 years (range 24-74 years), with no significant difference in age between males and females. The majority reported a smoking history and spirometry demonstrated moderate reduction in lung function parameters. While there was no pattern in the size or location of cysts, most demonstrated multiple cysts (55% had ≥5 cysts) with bilateral involvement (65%), alongside a range of concurrent pulmonary radiological abnormalities. The aetiology for lung cysts was largely unknown. CONCLUSION: This is the first report to illustrate cystic lung disease within an Indigenous population. Further radiology studies are required to investigate the causes and prognostications of cystic lung disease in Indigenous patients.

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.

Cystic benign melanosis of the conjunctiva.

PURPOSE: To report the clinical and histologic features of cystic benign melanosis. METHODS: This case series reports on the clinical and histopathologic features of 3 patients with enlarging, cystic, brown, pigmented, conjunctival lesions. RESULTS: Slit-lamp examination showed cystic melanotic lesions of bulbar conjunctiva. Histopathologic examination of the biopsy specimens showed epithelial lined cysts in the substantia propria, goblet cells, and secondary pigmentation of basilar keratinocytes. CONCLUSIONS: Cystic benign melanosis, a unique conjunctival lesion, should be differentiated from cystic nevus and primary acquired melanosis.

An unusual case of nasopalatine cyst in Brazilian population / Um caso incomum de cisto nasopalatino na população brasileira

The nasopalatine duct cyst (NPDC) is the most common non-odontogenic cyst typically found in middle-aged Caucasian female in Brazil, however the present report describes a case in a 35 year-old black male. NPDC are usually asymptomatic and are discovered incidentally during routine radiological examination. A cone-beam computed tomography (CBCT) is a valuable tool to localize a cyst within the nasopalatine canal. CBCT enables analysis of the dimension of the NPDC, analysis of the involvement of neighboring anatomical structures and assists in treatment planning. The authors at this case highlight the importance of clinical examination with an unbiased view of age, gender and ethnicity.

O cisto do ducto nasopalatino (CDNP) é o mais comum dos cistos não-odontogênicos geralmente encontrado em mulheres brancas de meia idade no Brasil, embora o presente relato descreva um caso em um homem negro de 35 anos de idade. Os CDNP são usualmente assintomáticos e são descobertos acidentalmente durante o exame radiográfico de rotina. A tomografia computadorizada por feixe cônico(TCFC) é uma ferramenta válida para localizar o cisto dentro do canal nasopalatino. A TCFC permite análise da dimensão do CDNP, análise do envolvimento das estruturas anatômicas vizinhas e auxilia no planejamento do tratamento. Os autores neste caso alertam para a importância do exame clinico, com uma visão embasada na idade, gênero e grupo étnico.

Primary iris stromal cyst with rapid growth.

PURPOSE: To describe the clinical features and the surgical management of primary iris stromal cyst with rapid growth. METHODS: A 14-year-old Chinese-Mongolian girl was referred to us with a 1-month history of obstructed vision and photophobia. On an examination, a semitransparent cyst with a densely pigmented posterior wall was revealed in the anterior chamber of the left eye. The information regarding the location and extent of the cyst was further analyzed by anterior segment optical coherence tomography and ultrasound biomicroscopy. It arose within the iris stroma, measuring 7.52 x 3.60 mm. Blood vessels on the surface of the lesion were revealed by iris angiography. There was no history of amniocentesis, birth trauma, antecedent ocular injury, or maternal illness during gestation. The diagnosis of primary iris stromal cyst was made. A combination of needle aspiration, piecemeal resection of cyst wall, cryotherapy, and argon laser photocoagulation with overlapped spots was used. RESULTS: Histopathology of the cyst wall revealed nonkeratinized, multilayered, stratified squamous epithelium with clusters of goblet cells. Complete resolution of the cyst was successfully achieved. The visual acuity improved to 20/25 from counting fingers. At 6 months of follow-up, there was no recurrence. CONCLUSIONS: Complete eradication and devitalization of any remaining epithelial cells are the key factors for preventing recurrence and diffuse epithelialization of the anterior chamber.

Oral abnormalities in Taiwanese newborns.

PURPOSE: The objective of this study was to investigate the frequency of oral abnormalities in newborns in Chang Gung Memorial Hospital, Taipei, Taiwan. METHODS: Study subjects were neonates born at Chang Gung Memorial Hospital between January 2000 and April 2000 (inclusive). All subjects were examined within 3 days of birth. Babies with craniofacial anomalies and/or other systemic diseases requiring intensive care were excluded. A dentist examined newborns using mirrors, tongue blades, and a flashlight. RESULTS: The authors examined a total of 420 neonates and found the frequency to be 94% for oral cysts and 1% for natal and neonatal teeth. Neither the frequency of palatal and gingival cysts of the newborn nor that of natal and neonatal teeth was associated with gender, body weight, and gestation age. CONCLUSIONS: Babies born at Chang Gung Memorial Hospital demonstrate a high rate (94%) of oral cysts of the newborns.

Auricular pseudocyst in the tropics: a multi-racial Singapore experience.

Endochondral pseudocyst of the auricle is an uncommon condition that affects predominantly Chinese males, with many reports studying this condition in homogenous Chinese populations. There have been few large-scale reports describing the features of this disease among the other Asian groups. In one of the largest series described to date, we report the epidemiological features, clinico-pathologic characteristics, and success of surgical treatment in 40 patients of different Asian groups presenting with pseudocyst of the auricle. Results showed a Chinese predominance (90 per cent), followed by Malays (five per cent) and Eurasians (five per cent). All had unilateral presentations apart from one patient. Most (55 per cent) presented within two weeks of auricular swelling. Few (10 per cent) had a history of trauma. The pseudocysts predominantly affected the concha (61 per cent). Surgery comprised excision of the anterior wall followed by local pressure application. Only 2.5 per cent had recurrence after surgery. These findings confirm earlier understood features of this disease while revealing some notable variations.

Immunoreactive endothelin in Taiwanese thyroid cystic fluid.

Endothelin-1 is a major vasoconstrictor peptide, first found in endothelial cells and later in many other tissues, including the thyroid gland. It is well known that endothelins can act as autocrine and/or paracrine regulators of thyroid homeostasis and growth. Previously we have demonstrated that immunoreactive endothelins (IR-ET) are present in various human body fluids, and IR-ET has also been detected in pathologic breast and thyroid cystic fluids. In this study, the IR-ET in Taiwanese thyroid cystic fluid was measured by radioimmunoassay and characterized by chromatography. Human thyroid cystic fluid was obtained by fine needle aspiration, was centrifuged, and the supernatant was stored at -20 degrees C until IR-ET assay. IR-ET has been detected in 25 of 33 samples of thyroid cystic fluid [25 cases, 4.11 +/- 0.31 fmol/mL (mean +/- standard error of the mean); other eight cases, undetectable]. Gel permeation chromatography of the extract of pooled cystic fluid showed only one major peak at the elution position of human endothelin-1 standard. No difference in cystic IR-ET levels was found in our patients with cystic nodules in relation to differences in thyroid function. It is probable that endothelin-1 is produced by the epithelial cells lining the thyroid cysts, and the increased levels of IR-ET in cystic fluid found in our patients could either be secondary to cystic nodule development or have a role in goiter formation.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

Choledochal cyst: case reports and current concepts.

Choledochal cyst is an unusual but serious condition which most commonly affects Oriental people. Recent experience of three patients with this condition in whom diagnosis was made by ultrasound examination is reported. Cholangiography (ERCP or PTC) was performed in two of the cases to define the anatomy. All three cases were successfully managed by cyst excision and biliary reconstruction by Roux-en-Y hepaticojejunostomy. The rationale for and importance of cyst excision are discussed.

Quiste peritoneal de líquido cefatorraquideo en adulto

Se estudia la historia clínica de un paciente adulto en quien se practicó la derivación ventrículo-peritoneal a los 15 años de edad, por la hidrocefalia que tenía. Posteriormente presentó un quiste peritoneal, que contenía líquido céfalorraquídeo, cuando tenía 18 años. El quiste peritoneal de LCR es una complicación poco frecuente en la población pediátrica y es muy rara en la población adulta, como sucedió en el paciente que estudiamos