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Search Results: 1 - 10 of 12860 matches for " Virilizing syndrome "
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Muhammad Shahnawaz
The Professional Medical Journal , 2000,
Abstract: The radiology and ultrasound findings of androgen secreting adenoma of adrenal gland are described. A caseis presented of a female patient with hypertension, primary infertility, menstrual irregularity and virilizingsyndrome. Non functional adenomas of the adrenal gland have been found in 5% of the routine necropsiesbut functional adenoma is exceedingly rare.
Tumor virilizante del ovario: Presentación de un caso
Ovies Carballo,Gisel; Yanes Quesada,Marelys; Cruz Hernández,Jeddú; Rodríguez Fernández,Lisbet; Acosta Cede?o,Alina;
Revista Cubana de Endocrinolog?-a , 2008,
Abstract: ovarian tumors are divided into functioning and non-functioning. those presenting endocrine activity and producing androgenization, such as the tumors of sertoli cells are within the latter group. a case of a 50-year-old female patient that clinically showed signs of progressive virilization was presented. a tumor on the right ovary was found by ultrasound and cat. after performing surgery, the existence of a sertoli-leydig cell tumor was confirmed.
Identificación de mutaciones puntuales del gen de la 21-hidroxilasa en pacientes afectados con hiperplasia suprarrenal congénita
Fonseca,Dora; Gutiérrez,Andrés; Silva,Claudia; Coll,Mauricio; Malo,Gustavo; Orjuela,Camilo; Arteaga,Clara; Giraldo,Alejandro;
Biomédica , 2005,
Abstract: introduction. congenital adrenal hyperplasia (cah) is an autosomal recessive disorder due to impaired cortisol secretion. approximately 95% of cah cases are caused by defects in the 21-hydrodylase2 (cypa2) gene. the spectrum of clinical manifestations includes a severe and mild form of expression. the frequency of the following point mutations was determined: p30l, ivs2-12a/c-g splice, del 8pb, i172n, cluster ex6, v281l, q318x, r356w and p453s. materials and methods. the 58 patients consisted of 48 with the severe form of cah and 10 with the mild form. point mutations in the hydroxylase gene were isolated by allele-specific pcr and pcr-acrs (amplification created restriction site), and their frequency was determined. results. alternate alleles were identified in 82.8% of the samples. the most frequent mutations were ivs2-12a/c-g splice (26.7%), q318x (21.5%), v281l (12.1%) and i172n (12.1%). discussion. the most frequent mutations were similar to those observed in other countries, except for q318x. although its frequency was higher but similar to that observed in latin american countries, it contrasted with those of other continents and indicated the possible influence of genetic background in its expression. several of the mutations were associated with specific clinical forms related to the enzyme activity. in the milder forms of cah, several alleles were detected. these were important because these patients can have children with the virilizing and salt wasting forms. recognition of the allelic forms of cah will permit more specific genetic counseling and prenatal diagnosis.
Tumor virilizante del ovario: Presentación de un caso Tumor virilizante del ovario: Presentación de un caso
Gisel Ovies Carballo,Marelys Yanes Quesada,Jeddú Cruz Hernández,Lisbet Rodríguez Fernández
Revista Cubana de Endocrinología , 2008,
Abstract: Los tumores del ovario se dividen en no funcionantes y funcionantes. Dentro de este último grupo existen los que presentan actividad endocrina y producen androgenización, como son los de células de Sertoli-Leydig. Presentamos el caso de una paciente de 50 a os de edad que clínicamente se presenta con signos de virilización progresiva. Se encuentra en estudio de imagen por ultrasonido y TAC un tumor en ovario derecho, por lo que se decide intervención quirúrgica que da como resultado tumor de células de Sertoli-Leydig. Ovarian tumors are divided into functioning and non-functioning. Those presenting endocrine activity and producing androgenization, such as the tumors of Sertoli cells are within the latter group. A case of a 50-year-old female patient that clinically showed signs of progressive virilization was presented. A tumor on the right ovary was found by ultrasound and CAT. After performing surgery, the existence of a Sertoli-Leydig cell tumor was confirmed.
Short Anagen Syndrome: A Case Study  [PDF]
Martina Alés Fernández, Francisco M. Camacho Martínez
Journal of Cosmetics, Dermatological Sciences and Applications (JCDSA) , 2012, DOI: 10.4236/jcdsa.2012.21004
Abstract: Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the anagen growth phase of hair follicles is shorter than normal. Its clinical characteristics and trichogram findings contribute to the diagnosis of this trichosis.
Cobb Syndrome: A Case Report with Review of Clinical and Imaging Findings  [PDF]
Alok Bhatt, Peter Kalina
Open Journal of Clinical Diagnostics (OJCD) , 2014, DOI: 10.4236/ojcd.2014.44033
Abstract: Cobb syndrome is a rare entity characterized by cutaneous vascular lesions and arteriovenous malformations in the spine, both in the same metamere. This syndrome is also known as cutaneous vertebral medullary angiomatosis, cutaneomeningospinal angiomatosis, and spinal arterial metameric disorder. We report the case of a male infant diagnosed with Cobb syndrome who was treated surgically. The presence of a cutaneous vascular lesion in this patient prompted subsequent imaging for spinal angioma or AVM in the same dermatome. Early recognition in this patient was shown to be life-changing, as patients with Cobb syndrome who have undergone early intervention have shown to be without neurologic deficit or have a halt in progression of symptoms.
Syed Ghulam Shabbir (1923-2002) and His Syndrome  [PDF]
Khalid Al Aboud, Daifullah Al Aboud
Journal of Cosmetics, Dermatological Sciences and Applications (JCDSA) , 2011, DOI: 10.4236/jcdsa.2011.12007
Abstract: Professor Syed Ghulam Shabbir (1923-2002), is one of the Pakistani well-known dermatologists. In 1986, Shabbir and his colleagues described a novel autosomal recessive syndrome, which they called laryngoonychocutaneous syndrome. They reported this condition, in 22 patients in 12 families living in Lahore, Pakistan. This syndrome is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx. This report sheds light on Shabbir and the syndrome that bears his name.
Ochoa Syndrome—A Twins Case Report  [PDF]
Nilo J. L. Barretto, Carlos A. F. Molina, Marcelo F. Cassini, Inalda Facincani, Fernando Miyada, Nilo C. L. Barretto, Silvio Tucci Jr.
Surgical Science (SS) , 2014, DOI: 10.4236/ss.2014.55036

Urofacial syndrome, known as Ochoa syndrome, is a very rare autosomal recessive disorder described as a clinical setting in which there is an association of a lower urinary tract and bowel dysfunction with a typical facial expression: the patient seems to be grimacing or crying when attempting to smile. If the diagnosis and treatment are delayed, the patients might have a poor outcome with continuous upper urinary tract deterioration, which makes the early diagnosis of this condition of vital importance. We report a case of two females identical twins, who are, nowadays, 19 years old, which had the Ochoa Syndrome diagnosis made when they were 10 years old, but discontinued medical follow up during treatment. They have developed chronic renal failure with hemodialysis need and are in a waiting list for kidney transplantation. In this rare disorder, even more unusual in twins and with high risks on progressing with renal failure, a simple attempt to smile may save lives if the condition is known by doctors such as pediatricians and pediatric urologists. Conclusion: We believe that unknowing this condition is the main explanation for this fact. Early diagnosis and close follow up are the key points to a successful outcome.

Wallenberg syndrome caused by hemorrhage in medulla oblongata: a case report  [PDF]
Hong-Liang Zhang, Jiang Wu, Ping Liu, Jie Lei, Jia Liu
Health (Health) , 2010, DOI: 10.4236/health.2010.210180
Abstract: A previously healthy 19 year-old college student presented with abrupt onset of nausea, vomiting, dizziness and vertigo, and progressively worsened with hoarseness, and swallowing disturbance, imbalance, numbness of right face and left-side limbs and trunk. The diagnosis of Wallenberg syndrome was established by clinical manifestations and medullary hemorrhage by combination use of magnetic resonance imaging (MRI) with computed tomography (CT). Supportive treatment was given to the patient and there was considerable improvement in his neurologic status after 40 days treatment.
Fraser Syndrome: Case Report with Review of Literature  [PDF]
Saruban Pasu, Luna Dhir, Sarah Mackenzie, Graham Thompson
Open Journal of Ophthalmology (OJOph) , 2011, DOI: 10.4236/ojoph.2011.11001
Abstract: Fraser syndrome is a rare autosomal recessive multisystem disorder with a reported incidence of 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths[1]. The condition is characterised by cryptophthalmos, cutaneous syndactyly, laryngeal and genitourinary malformations, craniofacial dysmorphism, orofacial clefting, musculoskeletal anomalies and mental retardation. The diagnosis can be made on prenatal scans, post natal clinical examination or on autopsy findings. We present a case of Fraser syndrome and review of the ocular manifestations of this condition.
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