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Search Results: 1 - 10 of 12976 matches for " kosstmanns syndrome "
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Neutropenias congénitas
Nú?ez Quintana,Aramís; Nordet Carrera,Ileana; Menéndez Veitía,Andrea; González Otero,Alejandro;
Revista Cubana de Hematolog?-a, Inmunolog?-a y Hemoterapia , 2004,
Abstract: neutrophils play a vital role in the protection of the organism against bacterial and mycotic infections. chronic severe neutropenia is defined as an absolute number of neutrophils under 500xmm3 that persist months or years. the causes of this condition are multiple. they may be congenital and exist since birth, or acquired and appear at any moment of life. the severe congenital neutropenias may appear isolatedly or they may be associated with complex genetic syndromes. among the first, clinical neutropenia and kostmann’s syndrome are of great interest due to the recent discovery of a mutation common to both affecting the neutrophil elastase gene (ela2). the use of the granulocytic colony stimulating factor has improved the prognosis of these entities
Neutropenias congénitas Congenital neutropenias
Aramís Nú?ez Quintana,Ileana Nordet Carrera,Andrea Menéndez Veitía,Alejandro González Otero
Revista Cubana de Hematolog?-a, Inmunolog?-a y Hemoterapia , 2004,
Abstract: Los neutrófilos desempe an un papel vital en la protección del organismo frente a infecciones bacterianas y micóticas. La neutropenia crónica severa, se define como un número absoluto de neutrófilos menor de 500xmm3 que persiste meses o a os. Las causas de esta condición son múltiples; pueden ser congénitas y existir desde el nacimiento, o adquiridas y aparecer en cualquier momento de la vida. Las neutropenias congénitas severas se pueden presentar de forma aislada o estar asociadas con síndromes genéticos complejos. Dentro de las primeras, la neutropenia cíclica y el síndrome de Kostmann han cobrado gran interés por el descubrimiento reciente de una mutación común a ambas que afecta al gen de la elastasa del neutrófilo (ELA2). El uso del factor estimulante de colonias granulocíticas ha mejorado el pronóstico de estas entidades Neutrophils play a vital role in the protection of the organism against bacterial and mycotic infections. Chronic severe neutropenia is defined as an absolute number of neutrophils under 500xmm3 that persist months or years. The causes of this condition are multiple. They may be congenital and exist since birth, or acquired and appear at any moment of life. The severe congenital neutropenias may appear isolatedly or they may be associated with complex genetic syndromes. Among the first, clinical neutropenia and Kostmann’s syndrome are of great interest due to the recent discovery of a mutation common to both affecting the neutrophil elastase gene (ELA2). The use of the granulocytic colony stimulating factor has improved the prognosis of these entities
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
Abstract:

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.

Management of Overlap Syndrome between Functional Dyspepsia and Irritable Bowel Syndrome by Western and Traditional Chinese Medicine  [PDF]
Fan Chen
Yangtze Medicine (YM) , 2017, DOI: 10.4236/ym.2017.12012
Abstract: The overlap syndrome of functional dyspepsia and irritable bowel syndrome (FD-IBS) is very common and difficult to treat. There are many risk factors of FD-IBS. Mental illness of FD-IBS patients is more serious. Functional dyspepsia and irritable bowel syndrome have some similarities in the aspects of pathophysiology, pathogenesis, and treatment. We should pay attention to two aspects of the treatment of overlap syndrome, one is simplifying medications, the other is using gastrointestinal motility drug with bidirectional regulative function when necessary. Traditional Chinese medicine in this respect shows some advantages. This review addresses the epidemiology, risk factors, clinical features, pathogenesis and management of FD-IBS.
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.
Early Initial Diagnosis of Gardner Syndrome in a 12-Year-Old Boy  [PDF]
Erich Bryan, Peter Kalina
Advances in Computed Tomography (ACT) , 2013, DOI: 10.4236/act.2013.21001
Abstract:

A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma. A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clinically suspected region at the left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gardner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis.

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