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Tinea Capitis by Microsporum audouinii: Case Reports and Review of Published Global Literature 2000-2016.
Brito-Santos, F, Figueiredo-Carvalho, MHG, Coelho, RA, Sales, A, Almeida-Paes, R
Mycopathologia. 2017;(11-12):1053-1060
Abstract
Tinea capitis caused by Microsporum audouinii is reported herein from two Brazilian schoolchildren, which are brothers. Arthroconidia were evidenced on direct examination of scalp hair, and a fungus of the genus Microsporum was isolated from cultures of each patient. The isolated fungi were classified as M. audouinii by visualization of species-specific structures, including: pectinate hyphae, chlamydospores, and fusiform macroconidia, sterile growth with characteristic brown pigment in rice grains, and through DNA sequencing of the internal transcriber spacer region. Patients were refractory to ketoconazole, but the two cases had a satisfactory response to oral terbinafine. All M. audouinii infections described in this century were reviewed, and to our knowledge, this is the first literature description of this species from South America. Misidentification of M. audouinii with Microsporum canis can occur in this area, leading to erroneous data about the occurrence of this species.
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Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.
Tenhola, S, Hendy, GN, Valta, H, Canaff, L, Lee, BS, Wong, BY, Välimäki, MJ, Cole, DE, Mäkitie, O
The Journal of clinical endocrinology and metabolism. 2015;(7):2515-8
Abstract
CONTEXT The 22q11.2 deletion syndrome (DS) is a common multiple anomaly syndrome in which typical features include congenital heart defects, facial dysmorphism, and palatal anomalies. Hypocalcemia due to hypoparathyroidism is a common endocrine manifestation resulting from variable parathyroid hypoplasia, but hypercalcemia has not previously been reported in 22q11.2 DS. CASE DESCRIPTION Our patient is a 16-year-old adolescent male with dysmorphic facial features and delayed motor and speech development. At 2 years of age, 22q11.2 DS was confirmed by fluorescence in situ hybridization. In contrast to hypoparathyroidism that is usually seen in 22q11.2 DS, this patient had early childhood-onset hypercalcemia with inappropriately high PTH levels and hypocalciuria. Genomic DNA was obtained from the proband and screened for calcium-sensing receptor (CASR) mutations with negative results. No parathyroid tissue could be localized by imaging or surgical exploration. As a result of symptomatic hypercalcemia, the patient was treated with a calcimimetic (cinacalcet). During the treatment, plasma calcium normalized with mild symptoms of hypocalcemia. After discontinuation of cinacalcet, calcium returned to high pretreatment levels. Further DNA analysis of adaptor protein-2 σ subunit (AP2S1) showed a heterozygous missense mutation c.44 G>T, resulting in a p.R15L substitution; the mutation was absent in the healthy parents and two siblings. CONCLUSIONS Hypercalcemia in our patient with 22q11.2 DS could be explained by the de novo mutation in AP2S1. Identification of a genetic cause for hypercalcemia is helpful in guiding management and avoiding unnecessary treatment.
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An unusual inflammatory rash.
Gathings, RM, Abide, JM, Brodell, RT
JAMA pediatrics. 2014;(2):185-6
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Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
Gannon, AW, Monk, HM, Levine, MA
The Journal of clinical endocrinology and metabolism. 2014;(1):7-11
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Abstract
CONTEXT Neonatal severe hyperparathyroidism (NSHPT) is a severe form of familial hypocalciuric hypercalcemia characterized by severe hypercalcemia and skeletal demineralization. In most cases, NSHPT is due to biallelic loss-of-function mutations in the CASR gene encoding the calcium-sensing receptor (CaSR), but some patients have heterozygous mutations. Conventional treatment consists of iv saline, bisphosphonates, and parathyroidectomy. OBJECTIVE The aim of this project was to characterize the molecular basis for NSHPT in an affected newborn and to describe the response to monotherapy with cinacalcet. METHODS Clinical and biochemical features were monitored as cinacalcet therapy was initiated and maintained. Genomic DNA was obtained from the proband and parents. The CASR gene was amplified by PCR and sequenced directly. RESULTS The patient was a full-term male who developed hypotonia and respiratory failure soon after birth. He was found to have multiple fractures and diffuse bone demineralization, with a marked elevation in serum ionized calcium (1.99 mmol/L) and elevated serum levels of intact PTH (1154 pg/mL); serum 25-hydroxyvitamin D was low, and fractional excretion of calcium was reduced. The serum calcium level was not reduced by iv saline infusion. Based on an extensive family history of autosomal dominant hypercalcemia, a diagnosis of NSHPT was made, and cinacalcet therapy was initiated with a robust and durable effect. Molecular studies revealed a heterozygous R185Q missense mutation in the CASR in the patient and his father, whereas normal sequences for the CASR gene were present in the patient's mother. CONCLUSIONS We describe the first use of cinacalcet as monotherapy for severe hypercalcemia in a newborn with NSHPT. The rapid and durable response to cinacalcet suggests that a trial of calcimimetic therapy should be considered early in the course of NSHPT.
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Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
Yavropoulou, MP, Kotsa, K, Gotzamani Psarrakou, A, Papazisi, A, Tranga, T, Ventis, S, Yovos, JG
Hormones (Athens, Greece). 2010;(3):274-8
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Abstract
X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate and vitamin D preparations is sometimes complicated with nephrocalcinosis, secondary or tertiary hyperparathyroidism and arterial hypertension. We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene. The patient, while under treatment with alphacalcidol and oral phosphate, developed hypercalciuria, nephrocalcinosis, secondary hyperparathyroidism and arterial hypertension. Cinacalcet was added to the therapeutic regimen and the long-term effects on calciotropic parameters and FGF23 levels are herein reported.
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[A tinea incognito case caused by Trichophyton rubrum with clinical and mycological cure and review of the literature].
Ilkit, M, Karakaş, M, Yüksel, T
Mikrobiyoloji bulteni. 2010;(1):149-53
Abstract
Tinea incognito is the result of lack of diagnosis of dermatophyte infection of the glabrous skin and the misuse of steroids or calcineurin inhibitors. In this case report a 20-years-old female patient diagnosed as tinea incognito and Trichophyton rubrum isolated from her skin lesions, was presented. The patient suffered from an itchy skin lesion on her neck and right breast. Physical examination revealed and plaques with erythema and papules on neck and breast area. The patient had used several corticostero- ids suggested by dermatologists for 10 months. Direct microscopic examination of the skin scrapings with 10% potassium hydroxide preparation revealed fungal elements and Trichophyton rubrum was isolated in culture. Use of corticosteroids was ceased and terbinafine (250 mg tb and cream) therapy was initiated to continue for four weeks. Following treatment, total clinical and mycological cure was established. It was concluded that tinea incognito which was not a rare clinical entity, could be presented in various clinical forms and usually resulted from the wrong treatment modalities. Thus atypical erythematous plaques should be investigated in terms of presence of fungi and treated accordingly to establish total clinical and mycological cure.