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Sample records for nevus syndrome clinical

  1. Becker's Nevus Syndrome

    PubMed Central

    Dasegowda, Sathyanarayana B; Basavaraj, GB; Nischal, KC; Swaroop, MR; Umashankar, NP; Swamy, Suchetha S

    2014-01-01

    Becker's nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker's nevus syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker's nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker's nevus was found. PMID:25071279

  2. Nevus Comedonicus Syndrome

    PubMed Central

    Yadav, Pravesh; Mendiratta, Vibhu; Rana, Shiwangi; Chander, Ram

    2015-01-01

    A case of nevus comedonicus syndrome with atypical cutaneous presentation (widespread involvement without any particular pattern, midline lesions involving lower abdomen and involvement of bilateral pinna), and some unusual skeletal (adduction deformity involving bilateral metatarsal along with medial deviation at the level of tarsometatarsal joint), central nervous system (agenesis of corpus callosum with a interhemispheric cyst), visceral (pancreatic cyst) and neurological manifestations have been illustrated. PMID:26288437

  3. A Second Case of Gobello Nevus Syndrome

    PubMed Central

    Tadini, Gianluca; Rossi, Luisa Carlotta; Faure, Elisa; Besagni, Francesca; Boneschi, Vinicio; Esposito, Susanna; Brena, Michela

    2016-01-01

    An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51–55] as a new epidermal nevus syndrome that was named after the first author of this work. Our case shows identical clinical and histopathological features and represents the second case of this rare syndrome reported in the literature. PMID:27194976

  4. A Second Case of Gobello Nevus Syndrome.

    PubMed

    Tadini, Gianluca; Rossi, Luisa Carlotta; Faure, Elisa; Besagni, Francesca; Boneschi, Vinicio; Esposito, Susanna; Brena, Michela

    2016-01-01

    An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51-55] as a new epidermal nevus syndrome that was named after the first author of this work. Our case shows identical clinical and histopathological features and represents the second case of this rare syndrome reported in the literature. PMID:27194976

  5. Basal cell nevus syndrome: clinical and molecular review and case report.

    PubMed

    Pino, Livia Cristina de Melo; Balassiano, Laila Klotz de Almeida; Sessim, Marlene; de Almeida, Ana Paula Moura; Empinotti, Vinicius Dequech; Semenovitch, Ivan; Treu, Curt; Lupi, Omar

    2016-04-01

    Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin-Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss-of-function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x-ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS. PMID:26356331

  6. The blue rubber bleb [corrected] nevus syndrome.

    PubMed

    Feingold, Robert M

    2009-01-01

    The blue rubber bleb nevus syndrome, a rare condition characterized by lesions of the skin, gastrointestinal tract, and other parts of the body, can result in serious gastrointestinal bleeding and other adverse results and be challenging to manage. The clinical features and treatment of this rare disorder are reviewed here. PMID:19518008

  7. Becker nevus syndrome presented with ipsilateral breast hypoplasia.

    PubMed

    Pektas, Suzan Demir; Akoglu, Gulsen; Metin, Ahmet; Adiyaman, Nuran Sungu; Demirseren, Mustafa Erol

    2014-11-01

    Becker nevus syndrome (BNS) is a rare epidermal nevus syndrome characterized with Becker nevus and ipsilateral breast gland hypoplasia or other skin, skeletal and/or muscle tissue disorders. A 24-year-old woman presented with brown, irregular bordered patch with a diameter of approximately 10 cm which consisted of several small macules on the left breast skin. The ultrasonography and magnetic resonance imaging revealed left breast hypoplasia. Histopathological examination demonstrated minimal acanthosis, papillomatosis, increase in basal layer melanin and hypertrophy of the erector pili muscle. Immunohistochemical staining was positive for androgen in the epidermis, dermal stromal cells and skin appendages. Depending on the clinical and histopathological findings, the patient was diagnosed as BNS. Diagnosis of BNS needs careful examination of pigmented macules and patches since non-hairy BN may be easily overlooked. Patients with BN should be evaluated for associated abnormalities of BNS, in which the severity and extend of ectodermal involvement may differ from patient to other. PMID:25484431

  8. Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds.

    PubMed

    Goldgar, D E; Cannon-Albright, L A; Meyer, L J; Piepkorn, M W; Zone, J J; Skolnick, M H

    1991-12-01

    Previous studies of the genetics of melanoma have focused on the dysplastic nevus syndrome (DNS). The variability in clinical and histopathological expression of affected individuals, however, has made definition and diagnosis of the syndrome difficult and subjective. Independent of the DNS, case-control studies have demonstrated the total number of nevi to be a significant risk factor for melanoma. In this article, we report results of genetic analyses of two quantitative nevus phenotypes that can be measured objectively in all subjects: the total number of nevi on an individual (TNN) and total nevus density (TND), a derived phenotype which incorporates both number and size of nevi. Ten kindreds ascertained for multiple cases of DNS-melanoma (multiplex ascertainment) and 16 kindreds and 19 solitary cases ascertained from a sequential list of melanoma cases without regard for family history (simplex ascertainment) were studied. Both phenotypes exhibited increased levels in relatives of probands compared with those in spouse controls. While neither TNN nor TND exhibited evidence for a major factor in the simplex pedigrees, a major factor was strongly indicated in the multiplex kindreds for TND. When both phenotypes were examined in more detail in the multiplex kindreds, the phenotype incorporating nevus size, TND, fit a mendelian pattern of inheritance better than the TNN. Significant residual familial correlations were found for both phenotypes. Parameter estimates from the best fitting genetic model indicated that a major gene may be responsible for 55% of the phenotypic variability of TND in the multiplex kindreds. PMID:1770551

  9. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus.

    PubMed

    Zanzmera, Paresh; Patel, Tinkal; Shah, Vinay

    2015-01-01

    Sturge-Weber syndrome (SWS), a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic) demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest) presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI) should be done in clinically suspicious cases of SWS, without facial nevus. PMID:25552865

  10. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus

    PubMed Central

    Zanzmera, Paresh; Patel, Tinkal; Shah, Vinay

    2015-01-01

    Sturge-Weber syndrome (SWS), a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic) demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest) presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI) should be done in clinically suspicious cases of SWS, without facial nevus. PMID:25552865

  11. [Blue nevus syndrome: endoscopic treatment by sclerosis and banding ligation].

    PubMed

    Sala Felis, T; Urquijo Ponce, J J; López Viedma, B; Pertejo Pastor, V; Berenguer Lapuerta, J

    1999-03-01

    The blue rubber bleb nevus syndrome is a rare entity characterized by the presence of cavernous hemangiomas in the skin and gastrointestinal tract with frequent digestive hemorrhages. Different therapeutic modalities exist: medical treatment, surgical resection; and most recently, endoscopic therapy has been described. We present a patient with blue rubber bleb nevus syndrome treated with combined endoscopic therapy: sclerosis and band ligation. PMID:10228324

  12. Basal cell nevus syndrome - close-up of palm (image)

    MedlinePlus

    ... skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This ... close-up of the pits found in the palm of an individual with basal cell nevus syndrome.

  13. Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis.

    PubMed

    Cabanillas, Miguel; Aneiros, Angel; Monteagudo, Benigno; Santos-García, Diego; Suárez-Amor, Oscar; Ramírez-Santos, Aquilina

    2009-01-01

    Epidermal nevus syndrome is a rare congenital sporadic neurocutaneous disorder characterized by an epidermal nevus and various developmental abnormalities of the skin, eyes, nervous, cardiovascular and urogenital systems. We describe a patient with an extensive epidermal nevus associated with various organ abnormalities, particularly polyostotic fibrous dysplasia, central nervous system lipoma, and aplasia cutis. Our patient demonstrates the polymorphic spectrum of involvement in epidermal nevus syndrome. PMID:19951625

  14. Blue Rubber Bleb Nevus Syndrome in a Child

    PubMed Central

    Premalatha, R.

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder with multiple haemangiomas in the skin, gastrointestinal tract and other visceral organs often associated with fatal bleeding and anaemia. We report a 13-year-old female child with multiple haemangiomas on skin and gastrointestinal tract with refractory anaemia. Awareness of this entity is necessary to prevent complications. PMID:26393188

  15. Blue rubber bleb nevus syndrome in a patient with ataxia and dementia.

    PubMed

    Vig, Elizabeth K; Brodkin, Kayla I; Raugi, Gregory J; Gladstone, Hayes

    2002-01-01

    Blue rubber bleb nevus syndrome (BRBNS), an uncommon disorder characterized by cavernous hemangiomas, most often of the skin and gastrointestinal tract, is usually diagnosed during childhood and young adulthood. We made this diagnosis in an octogenarian referred to a geriatric medicine clinic because of concerns about his ability to live independently. Ataxia, dementia, focal neurologic signs, and bluish/purplish vascular nodules on his lips, buccal mucosa, tongue, chest, and neck were noted on physical examination. Magnetic resonance imaging (MRI) revealed an old left parietal infarction, multiple cavernous hemangiomas most densely concentrated in the subcortical structures and cerebellum, and areas of hemosiderin deposition. Skin biopsy findings were consistent with hemangioma. The physical examination, MRI, and skin biopsy made a diagnosis of BRBNS likely. The patient's ataxia, dementia, and other neurologic signs can be explained by previous hemorrhage from the vascular malformations in his brain. Blue rubber bleb nevus syndrome is an uncommon cause of a relatively common geriatric syndrome presentation. PMID:11936246

  16. An atypical presentation of blue rubber bleb nevus syndrome.

    PubMed

    Gonzalez-Hernandez, Jessica; Lizardo-Sanchez, Luis

    2016-07-01

    A 69-year-old white man presented with several episodes of hematochezia. Colonoscopy demonstrated multiple colonic blebs localized mainly in the distal transverse colon. Esophagogastroduodenoscopy, capsule endoscopy, and computed tomography of the abdomen did not reveal any abnormalities. The patient required several blood transfusions and eventually required a subtotal colectomy with ileosigmoid anastomosis for definitive bleeding control. Pathology was remarkable for multifocal vascular ectasia, consistent with the diagnosis of blue rubber bleb nevus syndrome. PMID:27365887

  17. An atypical presentation of blue rubber bleb nevus syndrome

    PubMed Central

    Lizardo-Sanchez, Luis

    2016-01-01

    A 69-year-old white man presented with several episodes of hematochezia. Colonoscopy demonstrated multiple colonic blebs localized mainly in the distal transverse colon. Esophagogastroduodenoscopy, capsule endoscopy, and computed tomography of the abdomen did not reveal any abnormalities. The patient required several blood transfusions and eventually required a subtotal colectomy with ileosigmoid anastomosis for definitive bleeding control. Pathology was remarkable for multifocal vascular ectasia, consistent with the diagnosis of blue rubber bleb nevus syndrome. PMID:27365887

  18. Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes?

    PubMed

    Baker, Lauren A; Agim, Nnenna G

    2014-01-01

    We report a patient with oral-facial-digital syndrome type 1 (OFDS1) who exhibited features overlapping those of nevus comedonicus syndrome, an unusual presentation that may potentially represent a new variant of OFDS1. OFDS1 and nevus comedonicus syndrome represent two rare syndromes with numerous overlapping features that have yet to be described in relation to one another. The features present in our patient led us to propose the possibility of a new variant of OFDS1 in which nevus comedonicus represents a cutaneous manifestation of the syndrome. Knowledge of this potential relationship is important for identification and management of the syndromes' accompanying manifestations in affected patients and may offer further insight into crossroads of pathogenesis. PMID:24517846

  19. Inflammatory linear verrucous epidermal nevus syndrome with its polymorphic presentation - A rare case report

    PubMed Central

    Kumar, C. Anand; Yeluri, Garima; Raghav, Namita

    2012-01-01

    Epidermal nevi are hamartomatous lesions that are typically present at birth, but can occur anytime during childhood and may rarely appear in adulthood. An estimated one-third of individuals with epidermal nevi have involvement of other organ systems; hence, this condition is considered to be an epidermal nevus syndrome. There are four distinct epidermal nevus syndromes recognizable by the different types of associated epithelial nevi: linear sebaceous nevi, linear nevus comedonicus, linear epidermal nevus, and inflammatory linear verrucous epidermal nevus (ILVEN). Each type may be regarded as a part of a syndrome with other systemic manifestations. We report a rare case of ILVEN syndrome in a 23-year-old female patient with a wide spectrum of mucosal, cutaneous, and skeletal abnormalities, demonstrating the polymorphic presentation of this condition. PMID:22557913

  20. Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India

    PubMed Central

    Sancheti, Karan; Podder, Indrashis; Das, Anupam; Choudhury, Sourav; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report. PMID:26677281

  1. Basal cell nevus syndrome. Presentation of six cases and literature review.

    PubMed

    Díaz-Fernández, José María; Infante-Cossío, Pedro; Belmonte-Caro, Rodolfo; Ruiz-Laza, Luis; García-Perla-García, Alberto; Gutiérrez-Pérez, José Luis

    2005-01-01

    Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented. PMID:15800468

  2. Kabuki syndrome: a new case associated with Becker nevus.

    PubMed

    Cuesta, Laura; Betlloch, Isabel; Toledo, Fernando; Latorre, Nuria; Monteagudo, Almudena Flavia

    2011-01-01

    Kabuki syndrome or Kabuki makeup syndrome was first described in 1981 in Japan by two different groups of authors. These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. The term Kabuki makeup syndrome was coined because the peculiar facial features of the patients were reminiscent of the Japanese Kabuki theater masks. In 1988, Niikawa et al, after studying 62 patients, proposed five diagnostic criteria for this disease: peculiar facies (in 100% of all patients), skeletal anomalies (92%), dermatoglyphic anomalies (93%), medium to moderate mental retardation (92%), and short stature (83% of all cases). In addition to these findings, a variety of anomalies have been associated with this syndrome - the most serious being cardiac, renal, and urogenital abnormalities. We present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease, also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed. PMID:21906481

  3. Phakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma

    PubMed Central

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-01-01

    Abstract Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis. We describe 3 cases of PPV combined with bilateral Sturge–Weber syndrome (SWS), Ota nevus, and congenital glaucoma. Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb. Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma

  4. Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

    PubMed

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-07-01

    Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications

  5. Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations

    PubMed Central

    Goud, Aditya; Abdelqader, Abdelhai; Walters, Jamie; Selinger, Stephen

    2016-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant morbidity and mortality. This report serves to give a brief understanding of this rare disease along with current diagnostic and therapeutic options. PMID:26908380

  6. [Inflammatory linear verrucous epidermal nevus. Clinical and histopathological aspects of 7 cases].

    PubMed

    Kuri, R; Ruíz Maldonado, R; Tamayo, L

    1978-01-01

    The inflammatory linear verrucous nevus is a recently described variety of epidermal nevus clinically and histologically characterized by an inflammatory component. The lesion stars at birth or at early age, pruritus is constant. Histologically the picture is psoriasiform. The therapeutic response is poor. Seven cases are presented. Associated extracutaneous alterations were presented in four of them. PMID:398930

  7. The management of ophthalmic involvement in blue rubber bleb nevus syndrome

    PubMed Central

    Petek, Bradley; Jones, Robin L.

    2014-01-01

    Objective: Blue rubber bleb nevus syndrome is a rare vascular disease most commonly associated with venous malformations of the skin and the gastrointestinal tract. Few ophthalmic cases have been reported to date, and no clear treatment regimen exists. We describe the case of a 59-year-old man, along with a review of literature, to help in the future diagnosis and treatment of patients with the disease. Methods: This paper is an observational case report and a review of medical literature on the syndrome from 1981 to present. Results: Our patient developed a dural arteriovenous fistula in his orbit after being diagnosed with a familial form of blue rubber bleb nevus syndrome. Multiple endovascular embolization procedures eliminated all of his ocular symptoms. Surgical procedures were also successful in other cases reviewed, and similar symptoms were seen across cases. Conclusions: Comparing our case with other ophthalamic reports in literature, surgical intervention appears to be a plausible long-term treatment for optic manifestations of blue rubber bleb nevus syndrome. Systemic therapies, including sirolimus and corticosteroids, have had limited success in the long-term treatment of other forms of blue rubber bleb nevus syndrome, and therefore are not recommended in the treatment of ocular symptoms.

  8. Linear Nevus Sebaceous Syndrome: Report of Two Cases and a Review of the Literature

    ERIC Educational Resources Information Center

    Lovejoy, Frederick H., Jr.; Boyle, William E., Jr.

    1973-01-01

    Described are two cases of males, first seen as 2-month-old infants and followed until 6 years of age, having linear nevus sebaceous syndrome, an abnormal condition manifested by skin lesions or fatty tumors in a particular formation and neurological impairment; also, 11 cases now reported are reviewed. (Author/MC)

  9. Linear sebaceous nevus syndrome: report of a patient with unusual associated abnormalities.

    PubMed

    Palazzi, P; Artese, O; Paolini, A; Cazzato, C; Cucchiarelli, S; Iezzi, D; Amerio, P

    1996-01-01

    A 9-year-old girl was diagnosed as having a linear sebaceous nevus syndrome (LSNS). The nevus sebaceus was located on the face, and the girl also had nevoid hypertrichosis on the neck, sensorineural deafness, partial anodontia, blocked tear ducts, labiopalatoschisis, and an area of micropolygyria in the left encephalic (cerebral) hemisphere. Electroencephalographic alterations were detected, but they were not accompanied by a history of seizures; furthermore, the child was not mentally retarded. This phenotypic pattern of LSNS is unusual for the rarity of associated abnormalities. PMID:8919519

  10. Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

    PubMed

    Downey, Camila; Requena, Luis; Bagué, Silvia; Sánchez Martínez, Miquel Ángel; Lloreta, Josep; Baselga, Eulalia

    2016-07-01

    Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans. PMID:27296971

  11. [Basal cell nevus syndrome. Presentation of 2 cases. 1 associated with medulloblastoma].

    PubMed

    Balsa, R E; Ingratta, S M; Galeano, F A; Raffaeli, C A; Drut, R; Vestfrid, M

    1985-01-01

    A case of nevoid basal-cell carcinoma syndrome in a four years old girl with preceding familiar history is reported. In her epithelioma father numerous basocellular, milia cysts, mandibular cysts, dentition disorders, brain falx calcifica ted and hiperkeratosis of the sole of the feet were described. Clinically, the girl presented initial migraine and vomits together with macrocephalus, bossing forehead, hypertelorism, physical disorders, retarded maturation, "keel" thorax, genu recurvatum, hallux valgus, hammerfinger, pigmented nevus and hyperkeratosis of the sole of the feet. Radiologically diastasis of the skull suture with jagged image, endocranial hypertension, signs of macrocephalus of the facial bones, calcification of the brain falx, bridge of the sella turcica, bifid ribs and fusion of the ribs was observed. The axial computed tomography showed calcification of the vermix cerebelosus and severe hydrocephalus suggesting the presence of an occupant mass. After total surgical removal of the mass, the histological examination revealed a medulloblastoma. The skin biopsy of a cutaneous nevic element showed a basal-cell epithelioma. With the exception of an ovarian fibroma and fusion of the vertebras non appreciable because of the age. With the exception of the ovarian fibroma and the fusion of the vertebras, the patient showed the same characteristics as those described in the classification of Gorlin. The importance of this paper communication lie on the preceding familiar history, infrequency, compromise of different systems, malignant tendency of the cutaneous lesions and frequent association with non cutaneous neoplasias. PMID:3887060

  12. Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

    PubMed Central

    Toral-López, Jaime; Córdoba-Cabeza, Tania; Villeda, Maricela; Cortes-Castillo, Gabriel; Zenteno, Juan Carlos

    2013-01-01

    Oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300) encompasses a group of uncommon disorders characterized by malformations in the mouth, jaw and limbs. It has been associated with various entities such as gastroschisis, pulmonary hypoplasia, intestinal atresia, renal agenesis, hydrocephalus and other syndromes. We describe a boy of Mexican origin with features of OMLH. In addition, brain magnetic resonance imaging shows cerebral hemiatrophy and hemihypoplasia and an ipsilateral arachnoid cyst, as well as microcephaly and frontal nevus flammeus were observed. This association, to the best of our knowledge, has not been previously reported in the literature and could be part of a same spectrum of vascular defect with OMLH.

  13. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus.

    PubMed

    Saroj, Gyanendra; Gangwar, Anshul; Dhillon, Jatinder Kaur

    2016-01-01

    Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162

  14. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus

    PubMed Central

    Saroj, Gyanendra; Gangwar, Anshul

    2016-01-01

    ABSTRACT Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162

  15. Sonic hedgehog signaling in Basal cell nevus syndrome.

    PubMed

    Athar, Mohammad; Li, Changzhao; Kim, Arianna L; Spiegelman, Vladimir S; Bickers, David R

    2014-09-15

    The hedgehog (Hh) signaling pathway is considered to be a major signal transduction pathway during embryonic development, but it usually shuts down after birth. Aberrant Sonic hedgehog (Shh) activation during adulthood leads to neoplastic growth. Basal cell carcinoma (BCC) of the skin is driven by this pathway. Here, we summarize information related to the pathogenesis of this neoplasm, discuss pathways that crosstalk with Shh signaling, and the importance of the primary cilium in this neoplastic process. The identification of the basic/translational components of Shh signaling has led to the discovery of potential mechanism-driven druggable targets and subsequent clinical trials have confirmed their remarkable efficacy in treating BCCs, particularly in patients with nevoid BCC syndrome (NBCCS), an autosomal dominant disorder in which patients inherit a germline mutation in the tumor-suppressor gene Patched (Ptch). Patients with NBCCS develop dozens to hundreds of BCCs due to derepression of the downstream G-protein-coupled receptor Smoothened (SMO). Ptch mutations permit transposition of SMO to the primary cilium followed by enhanced expression of transcription factors Glis that drive cell proliferation and tumor growth. Clinical trials with the SMO inhibitor, vismodegib, showed remarkable efficacy in patients with NBCCS, which finally led to its FDA approval in 2012. PMID:25172843

  16. Effect of Photofrin on skin reflection of basal cell nevus syndrome patients

    NASA Astrophysics Data System (ADS)

    Grossweiner, Leonard I.; Jones, Linda R.; Koehler, Irmgard K.; Bilgin, Mehmet D.

    1996-04-01

    Skin reflection spectra were measured before and 24 hours after administration of Photofrin (Reg. TM) to basal cell nevus syndrome (BCNS) patients. The drug reduced the reflectivity of uninvolved BCNS skin and increased the reflectivity of basal cell cancers. Photofrin (Reg. TM) absorption in normal rat skin and uninvolved BCNS skin was resolved by the diffusion approximation. Optical constants calculated with a two-layer skin model indicate that the drug increased light scattering in tumor tissues. The possible use of reflection spectra for PDT light dosimetry is discussed.

  17. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

    PubMed

    Caux, Frédéric; Plauchu, Henri; Chibon, Frédéric; Faivre, Laurence; Fain, Olivier; Vabres, Pierre; Bonnet, Françoise; Selma, Zied Ben; Laroche, Liliane; Gérard, Marion; Longy, Michel

    2007-07-01

    We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associates classical manifestations of Cowden disease and congenital dysmorphisms including segmental overgrowth, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus reminiscent of the diagnosis of Proteus syndrome. We provide evidence in one of the two patients of a secondary molecular event: a loss of the PTEN wild-type allele, restricted to the atypical lesions that may explain an overgrowth of the affected tissues and the atypical phenotype. These data provide a new demonstration of the Happle hypothesis to explain some segmental exacerbation of autosomal-dominant disorders. They also show that a bi-allelic inactivation of PTEN can lead to developmental anomalies instead of malignant transformation, thus raising the question of the limitations of the tumor suppressive function in this gene. Finally, we suggest using the term 'SOLAMEN syndrome' (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation and Epidermal Nevus) in these peculiar situations to help the difficult distinction between the phenotype of our patients and Proteus syndrome. PMID:17392703

  18. Multi-system progressive angiomatosis in a dog resembling blue rubber bleb nevus syndrome in humans.

    PubMed

    Ide, K; Uchida, N; Iyori, K; Mochizuki, T; Fukushima, R; Iwasaki, T; Nishifuji, K

    2013-04-01

    A six-year-old, neutered, female golden retriever was presented with generalised, dark purple to black cutaneous nodules and gastrointestinal haemorrhage. Histopathologically, all cutaneous nodules were diagnosed as benign cavernous haemangiomas. Endoscopic analysis revealed similar nodules in the oesophagus, stomach and duodenum. At laparotomy, similar nodules were seen on the visceral peritoneal lining of abdominal organs. Metastatic haemangiosarcoma was ruled out based on histological features and lack of primary tumour in spleen, liver or heart ultrasonographically. Blood loss associated with gastrointestinal haemorrhage was managed with blood transfusion. To the authors' knowledge, this is the first canine case of multi-system progressive angiomatosis resembling blue rubber bleb nevus syndrome in humans. PMID:23496103

  19. Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?

    PubMed

    Gamayunov, Boris N; Korotkiy, Nikolay G; Baranova, Elena E

    2016-06-01

    Cutaneous symptoms in some patients with clinical picture of Schimmelpenning-Feuerstein-Mims syndrome can include a speckled lentiginous nevus, also known as nevus spilus. Recent investigations show that somatic heterozygous HRAS mutations are present in the sebaceous and speckled lentiginous nevus tissues of patients with combination of two nevi. PMID:27398198

  20. [Increased incidence of multiple melanoma in sporadic and familial dysplastic nevus cell syndrome].

    PubMed

    Sigg, C; Pelloni, F; Schnyder, U W

    1989-09-01

    In 280 melanoma patients all data concerning familial and personal history, histology, and therapy were verified. All patients underwent total-body skin examination to check for the presence of dysplastic nevus syndrome (DNS). In 257/280 patients (91.8%) solitary melanomas were found, while in 23/280 patients (8.2%) multiple melanomas occurring simultaneously or consecutively were ascertained. Surprisingly, among the 12/280 patients (4.2%) with familial variants of melanoma, multiple melanomas were not found in a increased frequency. In patients with DNS (regardless of whether sporadic or familial) the frequency of multiple melanomas is higher: in patients with solitary melanomas DNS was found in 27/257 (10.5%), while in patients with multiple melanomas DNS was diagnosed in 11/23 (47.8%) (P less than 0.0005). In both groups (solitary and multiple melanomas) the mean age of patients with DNS was around 10 years lower. The frequency of additional primary malignancies in patients with cutaneous melanomas was 8.6%, and did not vary according as whether patients had solitary or multiple melanomas with or without DNS. PMID:2807914

  1. Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face

    PubMed Central

    Korekawa, Ayumi; Nakajima, Koji; Aizu, Takayuki; Nakano, Hajime; Sawamura, Daisuke

    2015-01-01

    An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm. A few similar lesions were seen on the patient's right dorsal second toe and right buccal mucosa. There were no skin lesions on his trunk and upper limbs. The patient's past history did not include gastrointestinal bleeding or anemia. Histopathological examination showed dilated vascular spaces lined by the normal epithelium extending beneath the dermis and into the subcutaneous fat. Endoscopy of the gastrointestinal tract to check for colon involvement was not performed. X-ray images of the limbs revealed no abnormalities in the bones or joints. Laboratory investigations did not show anemia. Although we failed to confirm a diagnosis by endoscopy, the skin lesions, histopathological findings, lack of abnormal X-ray findings, and the presence of oral lesions as a part of gastrointestinal tract guided the diagnosis of blue rubber bleb nevus syndrome (BRBNS). Skin lesions of BRBNS occur predominantly on the trunk and upper limbs. However, the present case showed multiple skin lesions predominantly on the face. Therefore, it is important for clinicians to know about a possible atypical distribution of skin lesions in BRBNS. PMID:26351430

  2. Sister chromatid exchanges, hyperdiploidy and chromosomal rearrangements studied in cells from melanoma-prone individuals belonging to families with the dysplastic nevus syndrome.

    PubMed

    Jaspers, N G; Roza-de Jongh, E J; Donselaar, I G; Van Velzen-Tillemans, J T; van Hemel, J O; Rümke, P; van der Kamp, A W

    1987-01-01

    Cytogenetic investigations were performed on 25 individuals belonging to six melanoma-prone families with multiple melanocytic lesions (the dysplastic nevus syndrome, DNS). Patients having DNS with or without a history of melanoma were compared with clinically normal relatives and unrelated normal controls. The results indicate normal frequencies of hyperdiploidy and spontaneous sister chromatid exchanges in the fibroblasts of all individuals studied. Karyotypic analyses were carried out on the members of one family. The patients with DNS had a normal constitutional karyotype. In lymphocytes or fibroblasts from five patients, however, increased frequencies of cells with random chromosomal rearrangements were observed. These abnormalities, mainly translocations and inversions, were not found in two of the patients' spouses and in six clinically normal relatives. In the fibroblast cultures considerable clonal selection of cytogenetically abnormal cells occurred. PMID:3791172

  3. Eccrine Poroma Arising within Nevus Sebaceous

    PubMed Central

    Girdwichai, Natnicha; Chanprapaph, Kumutnart; Vachiramon, Vasanop

    2016-01-01

    Nevus sebaceous is a congenital, benign hamartomatous lesion, characterized by a yellowish to skin-colored, hairless, verrucous plaque on the head and neck region. In later life, a secondary tumor, either benign or malignant, can develop within nevus sebaceous. Eccrine poroma developing on nevus sebaceous is extremely rare. There are few case reports of eccrine poroma developing within nevus sebaceous. We report a case of a 30-year-old female who presented with a congenital, hairless, verrucous, yellowish lesion on the scalp and an erythematous nodule arising within the yellowish lesion for 8 months. Her clinical presentation and histopathological findings were compatible with nevus sebaceous and eccrine poroma. PMID:27194975

  4. Angiomatoid Spitz Nevus

    PubMed Central

    Kwon, Oh Eon; Ku, Bon-Seok; Lee, Yeong-Kyu; Kim, Young-Hun

    2008-01-01

    Spitz nevus is a variant of melanocytic nevus which is histopathologically defined as large spindle and/or epithelioid cells. Angiomatoid Spitz nevus is a rare histologic variant of desmoplastic Spitz nevus characterized by prominent vasculature. We present a case of angiomatoid Spitz nevus, celluar type, that has not been reported before. We provide another example to show the remarkable diversity of Spitz nevus. PMID:27303151

  5. Prostatic blue nevus.

    PubMed

    Anderco, Denisa; Lazăr, Elena; Tăban, Sorina; Miclea, Fl; Dema, Alis

    2010-01-01

    We report the case of a 69-year-old patient with no significant personal urological history. The clinical and ultrasound examination revealed a prostatic gland with increased volume and homogenous appearance. After transurethral resection, multiples gray-brown-blackish prostatic chips were obtained, which could be confused with a malignant melanoma. The histological routine examination in conjunction with the histochemical (Fontana-Masson) and immunohistochemical (S100, HMB45) reactions established the diagnosis of prostatic blue nevus. The presence of melanin in prostatic tissue is an unusual aspect, being encountered three distinct lesions: blue nevus, melanosis and malignant melanoma. Recognition and correct classification of each of these three entities is fundamental, concerning the clinical and prognosis implications. PMID:20809037

  6. Lasers and nevus of Ota: a comprehensive review.

    PubMed

    Shah, Vidhi V; Bray, Fleta N; Aldahan, Adam S; Mlacker, Stephanie; Nouri, Keyvan

    2016-01-01

    Nevus of Ota is a benign dermal melanocytic nevus that typically affects Asian children and women. The nevus presents as unilateral blue-gray hyperpigmented macules and patches scattered along the first and second divisions of the trigeminal nerve. Individuals with nevus of Ota experience emotional and psychosocial distress related to cosmetic disfigurement and often look for treatment options. Unfortunately, even when treated early, lesions of nevus of Ota are still difficult to treat. The use of lasers for the treatment of nevus of Ota lesions has become helpful in the management of dermal nevi. Currently, Q-switched (QS) lasers have been the most studied and demonstrated positive results for treatment of nevus of Ota. The purpose of this review article is to summarize the clinical efficacy and side effects associated with QS lasers and the treatment of nevus of Ota lesions. PMID:26563954

  7. The Ptch1DL mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome associated skeletal defects

    PubMed Central

    Feng, Weiguo; Choi, Irene; Clouthier, David E.; Niswander, Lee; Williams, Trevor

    2013-01-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. Employing an ENU-based screen for recessive mutations affecting craniofacial anatomy we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including defects in development of the limbs, scapula, ribcage, secondary palate, cranial base, and cranial vault. In humans, BCNS is often associated with mutations in the Hedgehog receptor PTCH1 and genetic mapping in DL identified a point mutation at a splice donor site in Ptch1. Using genetic complementation analysis we determined that DL is a hypomorphic allele of Ptch1, leading to increased Hedgehog signaling. Two aberrant transcripts are generated by the mutated Ptch1DL gene, which would be predicted to reduce significantly the levels of functional Patched1 protein. This new Ptch1 allele broadens the mouse genetic reagents available to study the Hedgehog pathway and provides a valuable means to study the underlying skeletal abnormalities in BCNS. In addition, these results strengthen the connection between elevated Hedgehog signaling and craniosynostosis. PMID:23897749

  8. A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy.

    PubMed

    Kopácová, Marcela; Tachecí, Ilja; Koudelka, Jaroslav; Králová, Miroslava; Rejchrt, Stanislav; Bures, Jan

    2007-07-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding and anemia. The syndrome is considered to be autosomaly predominantly inherited. Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the small ones, less than 3 mm) and treatment by endoscopic electro-coagulation or surgical excision. Capsule wireless endoscopy is optimal for screening before the IOE and for monitoring the effect of therapy (in patients with BRBNS). We report two cases of BRBNS. Anemia, gastrointestinal bleeding, gastrointestinal malformations and multifocal venous malformations of the skin were present in both of our cases. Gastrointestinal lesions were identified by gastroscopy, colonoscopy and capsule endoscopy. The multiple venous malformations were treated partly by endoscopic electro-coagulation (lesions up to 4 mm in diameter) and by wedge resection. Both of our patients were 12-year-old girls at the time of operation. In the first patient 31 venous malformations of the small bowel were coagulated, two were resected by the surgeon. In the second patient 20 lesions were coagulated endoscopically and another 31 nevi were resected during an 8 h procedure. The first girl is doing fine 4 years after the procedure, the second was allowed home 2 weeks after the procedure in excellent condition. IOE is a unique method of small bowel investigation and concurrently provides a solution for pathological findings. Capsule endoscopy is a feasible non-invasive screening procedure. We believe that a radical eliminatory approach by means of combined surgery and IOE is indicated for the BRBNS to prevent ongoing gastrointestinal bleeding. PMID:17205297

  9. Nevus Outreach, Inc.

    MedlinePlus

    ... Login Mathilde Jordyn Elizabeth Can I add a photo up here? CONTACT US Home About CMN About ... Membership Nevus Gatherings Nevus Maps Patient Advocacy Banner Photos Get Involved Donate Donate Outreach Angels 2016 Conference ...

  10. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  11. An Exploratory Clinical Trial of a Novel Treatment for Giant Congenital Melanocytic Nevi Combining Inactivated Autologous Nevus Tissue by High Hydrostatic Pressure and a Cultured Epidermal Autograft: Study Protocol

    PubMed Central

    Jinno, Chizuru; Sakamoto, Michiharu; Kakudo, Natsuko; Yamaoka, Tetsuji; Kusumoto, Kenji

    2016-01-01

    Background Giant congenital melanocytic nevi (GCMNs) are large brown to black skin lesions that appear at birth and are associated with a risk of malignant transformation. It is often difficult to reconstruct large full-thickness skin defects after the removal of GCMNs. Objective To overcome this difficulty we developed a novel treatment to inactivate nevus tissue and reconstruct the skin defect using the nevus tissue itself. For this research, we designed an exploratory clinical study to investigate the safety and efficacy of a novel treatment combining the engraftment of autologous nevus tissue inactivated by high hydrostatic pressurization with a cultured epidermal autograft (CEA). Methods Patients with congenital melanocytic nevi that were not expected to be closed by primary closure will be recruited for the present study. The target number of nevi is 10. The full-thickness nevus of the target is removed and pressurized at 200 MPa for 10 minutes. The pressurized and inactivated nevus is sutured to the original site. A small section of the patient’s normal skin is taken from around the nevus region and a CEA is prepared after a 3-week culturing process. The CEA is then grafted onto the engrafted inactivated nevus at four weeks after its retransplantation. The primary endpoint is the engraftment of the CEA at 8 weeks after its transplantation and is defined as being engrafted when the engraftment area of the inactivated nevus is 60% or more of the pretransplantation nevus area and when 80% or more of the transplanted inactivated nevus is epithelialized. Results The study protocol was approved by the Institutional Review Board of Kansai Medical University (No. 1520-2, January 5, 2016: version 1.3). The study opened for recruitment in February 2016. Conclusions This protocol is designed to show feasibility in delivering a novel treatment combining the engraftment of inactivated autologous nevus tissue and CEA. This is the first-in-man clinical trial of this

  12. Divided or kissing nevus of the penis.

    PubMed

    Hardin, Carolyn A; Tieu, Kathy D

    2013-10-01

    The divided or kissing nevus is an unusual congenital melanocytic nevus. By definition, these nevi appear on skin that separates during embryological development. These lesions have been reported on the eyelids, fingers, and rarely the penis. We describe an 18 year old uncircumcised male who presented with an asymptomatic darkly pigmented patch on the glans penis. He reported that the lesion had appeared recently and was enlarging. Physical examination revealed a second symmetric lesion on the adjacent foreskin. Punch biopsy of the lesion on the glans penis showed abundant intradermal melanocytes devoid of mitoses and atypia, consistent with an intradermal melanocytic nevus. Based on the benign histologic nature and clinical exam, the lesion was diagnosed as a divided or kissing nevus of the penis. Proposed treatments include excision and grafting as well as Nd:YAG laser therapy. However, these patients may be safely monitored with regular follow-up skin examinations because there is minimal risk of malignant transformation. PMID:24139368

  13. Melanocytic Nevus of the Tarsal Conjunctiva

    PubMed Central

    Yazıcı, Bülent; Bilge, Ayşe Dolar; Yağcı, Ayşe; Naqadan, Faisal; Altıntepe, Filiz

    2016-01-01

    Background: Melanocytic nevus is a rare occurrence in the tarsal conjunctiva and only 7 well-described cases have been reported previously in the English literature. Case Report: The medical records of 4 patients with tarsal conjunctival melanocytic nevus were reviewed, together with the relevant literature. All patients (3 women and 1 man; age range: 17 – 40 years) had been referred with a suspicion of melanoma. There was one tarsal nevus in the lower eyelid in 3 patients and 2 nevi in the upper eyelid in 1 patient. All lesions were darkly pigmented with irregular borders and were associated with a history of a recent growth in size. An intralesional cyst was present in 1 nevus only. After surgical excision, no recurrence or complication occurred during the follow-up period (range: 7 – 48 months). Conclusion: Tarsal melanocytic nevus has been described in detail in 11 cases, including these 4 cases, in the English literature. The lesion arose from the lower eyelid in all cases except one. Tarsal melanocytic nevi may frequently display clinical features suggesting melanoma, such as advanced patient age, recent growth, dark and irregular pigmentation, nodularity, hypervascularity, and the absence of an intralesional cyst. After total excision, nevus recurrence or malignant transformation has not been reported.

  14. Hyalinizing Spitz nevus: spindle and epithelioid cell nevus with paucicellular collagenous stroma.

    PubMed

    Liu, Jing; Cohen, Philip R; Farhood, Anwar

    2004-01-01

    Hyalinizing spindle and epithelioid cell nevus (Spitz nevus) is an uncommon melanocytic lesion. The histologic features of this benign tumor can mimic those of certain benign (dermatofibroma and desmoplastic cellular blue nevus) and malignant (metastatic carcinoma and malignant melanoma) neoplasms. We report a woman with a hyalinizing Spitz nevus and review the clinical characteristics, histologic features, and differential diagnosis of this lesion. The lesion presented as an asymptomatic red firm nodule on her abdomen. Microscopic examination showed a symmetric lesion in the dermis. The neoplastic cells were large and epithelioid-shaped or plump and spindle-shaped. They were present as isolated individual cells, single cells in a linear pattern, small nests, and fascicles in a paucicellular hyalinized stroma. Neoplastic cells with prominent eosinophilic nucleoli were evenly exhibited from the superficial to deep lesion. Diffuse expression of S-100 protein and absence of staining with antibodies to cytokeratin and HMB-45 were observed. The features were diagnostic of a hyalinizing Spitz nevus. Hyalinizing Spitz nevus is a benign lesion whose histologic features may mimic dermatofibroma, desmoplastic cellular blue nevus, metastatic carcinoma, and malignant melanoma. Immunohistochemical studies are helpful to differentiate these lesions. PMID:14746435

  15. Alagille syndrome: clinical perspectives.

    PubMed

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  16. Alagille syndrome: clinical perspectives

    PubMed Central

    Saleh, Maha; Kamath, Binita M; Chitayat, David

    2016-01-01

    Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome. PMID:27418850

  17. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  18. Late Onset Epidermal Nevus with Hypertrichosis and Facial Hemihypertrophy

    PubMed Central

    Saritha, M; Chandrashekar, Laxmisha; Thappa, Devinder Mohan; Ramesh, A; Basu, Debdatta

    2014-01-01

    Epidermal nevus syndromes are rare conditions, characterized by different types of keratinocytic or organoid epidermal nevi in association with ocular, neurological, and skeletal manifestations. We present a case of late onset epidermal nevus with hypertrichosis and hemihypertrophy of face. Genetic analysis did not reveal presence of FGFR3 or PIK3CA mutations. The patient has features that cannot be categorized into the present well-known syndromes. PMID:24700959

  19. Neurotized Congenital Melanocytic Nevus Resembling a Pigmented Neurofibroma

    PubMed Central

    Singh, Nidhi; Chandrashekar, Laxmisha; Kar, Rakhee; Sylvia, Mary Theresa; Thappa, Devinder Mohan

    2015-01-01

    Neurotized congenital melanocytic nevus and pigmented neurofibroma (PNF) are close mimics and pose a clinicopathological challenge. We present a case of pigmented hypertrichotic plaque over lumbosacral region and discuss the differential diagnosis and its clinical, histopathological and immunohistochemistry features which may aid in differentiation. We highlight the difficulties faced in differentiating neurotized congenital melanocytic nevus from pigmented neurofibroma. PMID:25657396

  20. Clinical syndromes of mastalgia.

    PubMed

    Preece, P E; Mansel, R E; Bolton, P M; Hughes, L M; Baum, M; Gravelle, I H

    1976-09-25

    232 patients attending a breast clinic with breast pain as the primary presenting symptom were studied prospectively to define clinical syndromes and to attempt to elucidate aetiological factors. Those women in whom mastalgia was a minor aspect of their complaint, or who were primarily seeking reassurance that they did not have cancer, were excluded. Most mastalgia patients could be placed into well-defined subgroups on the basis of clinical, radiological, and pathological features. After excluding causes of pain arising outside the breast, six specific groups with widely differing aetiological bases were defined, leaving only 7% unclassified lithout known aetiology. The six defined groups were cyclical pronounced mastalgia, (believed to be hormonally based), duct ectasia. Tietze syndrome, trauma, sclerosing adenosis, and cancer. Psychological factors were found to be less important than has been previously suggested. Classification of patients with mastalgia into homogeneous subgroups is a prerequisite of any therapeutic study. PMID:60528

  1. Cerebriform intradermal nevus presenting as cutis verticis gyrata with multiple cellular blue nevus over the body: A rare occurrence

    PubMed Central

    Sarkar, Somenath; Roychoudhury, Soumyajit; Shrimal, Arpit; Das, Kapildeb

    2014-01-01

    Cutis verticis gyrata is a rare skin condition characterized by swelling of scalp resembling the surface of the brain. Various conditions, like cerebriform intradermal nevus (CIN), may give rise to this clinical entity. Moreover, its association with cellular blue nevus is extremely rare and has not been reported so far. Here, we report a 28-year-old male with a huge cerebriform swelling covering the occipital lobe along with multiple nodules all over the body. Histology of the scalp swelling showed solitary or clusters of nevus cells in the dermis and from the body lesions showed features of cellular blue nevus. The diagnosis of CIN with cellular blue nevus was confirmed PMID:24616852

  2. Hypersensitivity of skin fibroblasts from basal cell nevus syndrome patients to killing by ultraviolet B but not by ultraviolet C radiation

    SciTech Connect

    Applegate, L.A.; Goldberg, L.H.; Ley, R.D.; Ananthaswamy, H.N. )

    1990-02-01

    Basal cell nevus syndrome (BCNS) is an autosomal dominant genetic disorder in which the afflicted individuals are extremely susceptible to sunlight-induced skin cancers, particularly basal cell carcinomas. However, the cellular and molecular basis for BCNS is unknown. To ascertain whether there is any relationship between genetic predisposition to skin cancer and increased sensitivity of somatic cells from BCNS patients to killing by UV radiation, we exposed skin fibroblasts established from unexposed skin biopsies of several BCNS and age- and sex-matched normal individuals to either UV-B (280-320 nm) or UV-C (254 nm) radiation and determined their survival. The results indicated that skin fibroblasts from BCNS patients were hypersensitive to killing by UV-B but not UV-C radiation as compared to skin fibroblasts from normal individuals. DNA repair studies indicated that the increased sensitivity of BCNS skin fibroblasts to killing by UV-B radiation was not due to a defect in the excision repair of pyrimidine dimers. These results indicate that there is an association between hypersensitivity of somatic cells to killing by UV-B radiation and the genetic predisposition to skin cancer in BCNS patients. In addition, these results suggest that DNA lesions (and repair processes) other than the pyrimidine dimer are also involved in the pathogenesis of sunlight-induced skin cancers in BCNS patients. More important, the UV-B sensitivity assay described here may be used as a diagnostic tool to identify presymptomatic individuals with BCNS.

  3. A randomized, split-face clinical trial of Q-switched alexandrite laser versus Q-switched Nd:YAG laser in the treatment of bilateral nevus of Ota.

    PubMed

    Wen, Xiang; Li, Yong; Jiang, Xian

    2016-01-01

    Different types of Q-switched (QS) lasers have been used successfully to treat nevus of Ota. The purpose of this study was to compare the clinical efficacy and complication of QS alexandrite (QS Alex) laser versus QS neodymium:yttrium aluminum garnet (Nd:YAG) (QS Nd:YAG) laser for bilateral nevus of Ota. Seventeen patients with bilateral nevus of Ota were treated randomly with QS Alex in one half of face and QS Nd:YAG in the other half with an interval of at least 3 months between each. Subjective assessment was made by both patients and dermatologists. Patients were also examined for evidence of complications. All patients experienced improvement (p < 0.05). There was no statistically significant difference between the two sides (p > 0.05). The pain after a short period of laser therapy was more severe for QS Alex than for QS Nd:YAG laser. Vesicles developed in 1 patient after QS Alex therapy. Both QS Alex laser and QS Nd:YAG laser were equally effective at improving bilateral nevus of Ota. Patients tolerate QS Nd:YAG laser better than QS Alex laser. PMID:25968166

  4. Linear Epidermal Nevus of the Oral Cavity: A Rare Diagnosis

    PubMed Central

    Santos, Mariana Dutra de Cássia Ferreira; Duarte, Alexandre Scalli Mathias; Carvalho, Guilherme Machado; Guimarães, Alexandre Caixeta; Zappelini, Carlos Eduardo Monteiro; Coelho Dal Rio, Ana Cristina; Corrêa, Maria Elvira Pizzigatti; Milani Altemani, Albina Messias de Almeida; Danielli Nicola, Ester Maria

    2012-01-01

    Linear epidermal nevus is an uncommon diagnosis of benign lesions of the oral cavity. It is characterized by a congenital malformation arising from the ectoderm cells, which are arranged according to a typical linear configuration known as Blaschko's lines. We report a case of linear epidermal nevus of oral cavity in a 51-year-old lady or woman. The linear epidermal nevus of the oral cavity, although rare, can be considered a differential diagnosis of oral papillomatosis (OP). The histopathological studies and detailed description are the center of the diagnostic and clinical evolution. PMID:22811716

  5. Development of Halo Nevus Around Nevus Spilus as a Central Nevus, and the Concurrent Vitiligo

    PubMed Central

    Kim, Yoon Young; Kim, Mi Yeon

    2008-01-01

    Halo nevus is a benign melanocytic nevus that is surrounded by a hypopigmented zone. The most frequent association with halo nevus is vitiligo, and this also appears in nearby regions, as well as at other remote sites. Although the mechanism for developing the depigmentation around nevus spilus is uncertain an immunologic process may be responsible for the finding of inflammatory infiltrates of the upper dermis in the depigmented lesions. We report here on a 13-year-old boy who showed a depigmented zone around a nevus spilus on the right side of his neck with simultaneous vitiligo lesions on the face. PMID:27303201

  6. Clinically isolated syndromes.

    PubMed

    Miller, David H; Chard, Declan T; Ciccarelli, Olga

    2012-02-01

    Clinically isolated syndrome (CIS) is a term that describes a first clinical episode with features suggestive of multiple sclerosis (MS). It usually occurs in young adults and affects optic nerves, the brainstem, or the spinal cord. Although patients usually recover from their presenting episode, CIS is often the first manifestation of MS. The most notable risk factors for MS are clinically silent MRI lesions and CSF oligoclonal bands; weak or uncertain risk factors include vitamin D deficiency, Epstein-Barr virus infection, smoking, HLA genes, and miscellaneous immunological abnormalities. Diagnostic investigations including MRI aim to exclude alternative causes and to define the risk for MS. MRI findings incorporated into diagnostic criteria in the past decade enable MS to be diagnosed at or soon after CIS presentation. The course of MS after CIS is variable: after 15-20 years, a third of patients have a benign course with minimal or no disability and a half will have developed secondary progressive MS with increasing disability. Prediction of the long-term course at disease onset is unreliable. Disease-modifying treatments delay the development from CIS to MS. Their use in CIS is limited by uncertain long-term clinical prognosis and treatment benefits and adverse effects, although they have the potential to prevent or delay future tissue damage, including demyelination and axonal loss. Targets for future therapeutic progress are to achieve safe and effective long-term immunomodulation with neuroprotection and repair. PMID:22265211

  7. Genetics Home Reference: white sponge nevus

    MedlinePlus

    ... Genetics Home Health Conditions white sponge nevus white sponge nevus Enable Javascript to view the expand/collapse ... Download PDF Open All Close All Description White sponge nevus is a condition characterized by the formation ...

  8. Incidentally Detected Blue Nevus of Endocervix: a Case Report

    PubMed Central

    Bhat, Shaila Talengala; Shivamurthy, Archana; Kini Rao, Anuradha Calicut

    2015-01-01

    Blue nevi are uncommon, asymptomatic lesions of the uterine cervix. These lesions are not often detected clinically or on colposcopy. Careful histopathological examination is required. The nevus cells are said to originate from the immature melanoblasts of the neural crest. These lesions need to be differentiated from malignant melanoma and melanosis of the cervix. We present here a case report of incidentally detected cervical blue nevus in a 52 year old lady. PMID:26351493

  9. The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

    PubMed

    Pappas, John G

    2015-04-01

    Beckwith-Wiedemann syndrome (BWS) is the most common genetic overgrowth syndrome, and it is frequently clinically recognizable because of characteristic features. These features include macrosomia, hemihypertrophy, macroglossia, facial nevus flammeus, earlobe creases and pits, omphalocele, and organomegaly. The most common molecular cause is hypomethylation of the maternal imprinting control region 2 (ICR2) in 11p15. Other molecular causes include hypermethylation of the maternal ICR1 in 11p15, mutations in CDKN1C, mosaic uniparental disomy 11p15, and chromosomal abnormalities involving 11p15. Some of these abnormalities are testable, and DNA methylation tests of 11p15 confirm about 60% of cases with BWS. The main management issues in pediatrics are hypoglycemia at birth, macroglossia, and surveillance for embryonal tumors, especially Wilms and hepatoblastoma. PMID:25861997

  10. Apocrine hidrocystoma arising from nevus sebaceous on the scalp.

    PubMed

    Tejaswi, Cherukuri; Rangaraj, Murugaiyan; Karthikeyan, Kaliaperumal

    2016-01-01

    Nevus sebaceous is a hamartoma with an uneventful course since birth but many benign or malignant tumors are known to develop in about one third of the patients. A 37-year-old woman with asymptomatic hairless raised lesion over the scalp since birth presented with change in the morphology of the lesions associated with itching and irritation since one month. On examination, multiple well-defined hyperpigmented verrucous plaques coalescing with each other were seen over the right parietal scalp associated with alopecia. A single well-defined soft skin-colored cystic swelling of size 1 × 2 cm was seen interspersed within the plaque. After a clinical diagnosis of nevus sebaceous, a biopsy of the cyst was done, which revealed a large cyst lined by columnar and myoepithelial cells in the dermis. The columnar cells at a few places showed "decapitation secretion" giving the impression of apocrine hidrocystoma. Post-excision of the cyst, biopsy of the entire nevus was done and the histopathological diagnosis correlated with the clinical diagnosis of nevus sebaceous. Apocrine hidrocystoma developing from a sebaceous nevus over the scalp is a rarity with only three other cases of it arising on the scalp being reported and none of them developed from a sebaceous nevus. PMID:27057493

  11. Apocrine hidrocystoma arising from nevus sebaceous on the scalp

    PubMed Central

    Tejaswi, Cherukuri; Rangaraj, Murugaiyan; Karthikeyan, Kaliaperumal

    2016-01-01

    Nevus sebaceous is a hamartoma with an uneventful course since birth but many benign or malignant tumors are known to develop in about one third of the patients. A 37-year-old woman with asymptomatic hairless raised lesion over the scalp since birth presented with change in the morphology of the lesions associated with itching and irritation since one month. On examination, multiple well-defined hyperpigmented verrucous plaques coalescing with each other were seen over the right parietal scalp associated with alopecia. A single well-defined soft skin-colored cystic swelling of size 1 × 2 cm was seen interspersed within the plaque. After a clinical diagnosis of nevus sebaceous, a biopsy of the cyst was done, which revealed a large cyst lined by columnar and myoepithelial cells in the dermis. The columnar cells at a few places showed “decapitation secretion” giving the impression of apocrine hidrocystoma. Post-excision of the cyst, biopsy of the entire nevus was done and the histopathological diagnosis correlated with the clinical diagnosis of nevus sebaceous. Apocrine hidrocystoma developing from a sebaceous nevus over the scalp is a rarity with only three other cases of it arising on the scalp being reported and none of them developed from a sebaceous nevus. PMID:27057493

  12. Porokeratotic Eccrine Ostial and Dermal Duct Nevus

    PubMed Central

    Naraghi, Mona Masoumeh; Goodarzi, Azadeh

    2013-01-01

    PEODDN is a rare benign cutaneous disorder that clinically resembles comedo nevus but favors the palms and soles, where pilosebaceous follicles are absent. Widespread involvement along Blaschko's lines can also occur. It is a disorder of keratinization involving the intraepidermal eccrine duct (acrosyringium) and is characterized by eccrine hamartoma and cornoid lamellation in pathology. The patient is a 29-year-old man with an 8-year history of pruritic skin lesions on his right lateral ankle. In the pathologic examination, multiple small epidermal invagination with overlying parakeratotic cornoid lamellation, loss of granular layer, and few dyskeratotic cells at the base of epidermal invagination are revealed. After clinic-pathologic correlation, the diagnosis of porokeratotic eccrine ostial and dermal duct nevus (PEODDN) was made. Late-onset and rare clinical presentation as pruritic lesion are the characteristic features that make this patient an extraordinary presentation of PEODDN. PMID:24307955

  13. Clinical characteristics of CHARGE syndrome.

    PubMed

    Ahn, B S; Oh, S Y

    1998-12-01

    CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome. PMID:10188375

  14. CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.

    PubMed

    Gantner, Susanne; Rütten, Arno; Requena, Luis; Gassenmaier, Gerhard; Landthaler, Michael; Hafner, Christian

    2014-10-01

    CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects. A 27-year-old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area, left hand and left foot since childhood. The histopathologic findings were consistent with verruciform xanthoma. In correlation with the clinical picture of a linear lesion, the diagnosis of CHILD nevus was made. Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. This syndrome can be associated with only minimal clinical symptoms. The anatomical distribution of the lesions, a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases. PMID:25093865

  15. Giant congenital melanocytic nevus in a bulgarian newborn.

    PubMed

    Chokoeva, A A; Fioranelli, M; Roccia, M G; Lotti, T; Wollina, U; Tchernev, G

    2016-01-01

    Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant congenital melanocytic nevus on his back, as we discuss the diagnostic and treatment approach. PMID:27373137

  16. Zosteriform Collagen Nevus in an Infant.

    PubMed

    Aksu Çerman, Aslı; Aktaş, Ezgi; Kıvanç Altunay, Ilknur Kıvanç; Demirkesen, Cuyan

    2016-06-01

    Connective tissue nevi (CTN) are dermal hamartomas characterized by an imbalance in the amount and distribution of the normal components of the extracellular dermal matrix, specifically collagen, elastin, and/or proteoglicans. The term "CTN" was first mentioned by Lewandowsky in 1921 (1), although it was not accepted until the review by Gutmann in 1926 (2). Classification of CTN was established by Uitto et al. (3) in 1980 according to clinical, genetic, and histopathological features. But this classification did not include zosteriform nevi. The more recent Pierard and Lapiere (4) classification seems to be a more suitable method of classification for zosteriform nevi. They classified CTN into two groups: (1) reticular and (2) adventitial. Zosteriform nevus is a rare form of reticular CTN that is diagnosed according to its clinical distribution. Here we report a collagen nevus in an infant that followed a zosteriform pattern. An 8-month-old girl presented with flesh-colored plaques on the right buttock in a zosteriform distribution, which had been present since birth. The plaques appeared to be well-defined cobblestone-like nodules on palpation (Figure 1). Systemic examination, laboratory tests and radiologic examinations did not reveal any abnormalities. The patient had no associated disease and no history of similar skin findings among family members. A skin punch biopsy was performed from one of the nodules. The histopathologic examination showed significantly increased density of thickened collagen fibers in the lower dermis and subcutaneous tissue. Verhoeff-van Gieson and orcein stains demonstrated the presence of dense collagen fibers with diminished elastic fibers (Figure 2). Four subtypes of collagen tissue nevus have been described: (I) familial cutaneous collagenoma, (II) shagreen patches in tuberous sclerosis, (III) eruptive collagenoma, (IV) and isolated collagenoma (5). Isolated collagenoma with lack of family history is fairly rare. It is sporadic

  17. [Bilateral segmental neurofibromatosis simulating epidermal nevus].

    PubMed

    Gambichler, T; Küster, W; Wolter, M; Rapp, S; Altmeyer, P; Hoffmann, K

    2000-11-01

    Neurofibromatosis is a neuroectodermal systemic disease. A rare variant of this condition is bilateral segmental neurofibromatosis. A 29-year-old man presented with bilateral papillomatous plaques in the lumbar dermatomes. Clinically, the lesions were very similar to an epidermal nevus but histologic examination revealed superficial neurofibromas. Family history, ophthalmologic and neurologic investigations were unremarkable. The unusual morphologic presentation of bilateral segmental neurofibromas in this case points to the wide clinical spectrum of the disease and the significance of histologic examination in systematic nevoid lesions. PMID:11116852

  18. Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

    PubMed Central

    Laureano, André; Carvalho, Rodrigo; Amaro, Cristina; Freitas, Isabel; Cardoso, Jorge

    2014-01-01

    Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type. PMID:25506441

  19. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

    PubMed

    Russell, Bianca; Johnston, Jennifer J; Biesecker, Leslie G; Kramer, Nancy; Pickart, Angela; Rhead, William; Tan, Wen-Hann; Brownstein, Catherine A; Kate Clarkson, L; Dobson, Amy; Rosenberg, Avi Z; Vergano, Samantha A Schrier; Helm, Benjamin M; Harrison, Rachel E; Graham, John M

    2015-09-01

    Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported. PMID:25921057

  20. Acquired Bilateral Nevus of ota-like Macules with Mucosal Involvement: A New Variant of Hori's Nevus

    PubMed Central

    Bhat, Ramesh M; Pinto, Hyacinth Peter; Dandekeri, Sukumar; Ambil, Srinath Madapally

    2014-01-01

    Acquired bilateral nevus of Ota-like macules (ABNOM) or Hori's nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori's nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori's nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori's nevus with mucosal involvement has not been reported so far. PMID:24891664

  1. Treatment Options for Congenital Pigmented Nevus

    MedlinePlus

    ... nevus community have had varying success with different lotions, creams and other items. These items can alleviate ... important to note that there are no creams, lotions or other products that can remove a nevus! ...

  2. Clinical pharmacology of old age syndromes

    PubMed Central

    Broadhurst, C; Wilson, K C M; Kinirons, M T; Wagg, A; Dhesi, J K

    2003-01-01

    Several syndromes occur in old age. They are often associated with increased mortality and in all there is a paucity of basic and clinical research. The recent developments in the clinical pharmacology of three common syndromes of old age (delirium, urinary incontinence, and falls) are discussed along with directions for future research. PMID:12919174

  3. Update on clinically isolated syndrome.

    PubMed

    Thouvenot, Éric

    2015-04-01

    Optic neuritis, myelitis and brainstem syndrome accompanied by a symptomatic MRI T2 or FLAIR hyperintensity and T1 hypointensity are highly suggestive of multiple sclerosis (MS) in young adults. They are called "clinically isolated syndrome" (CIS) and correspond to the typical first multiple sclerosis (MS) episode, especially when associated with other asymptomatic demyelinating lesions, without clinical, radiological and immunological sign of differential diagnosis. After a CIS, the delay of apparition of a relapse, which corresponds to the conversion to clinically definite MS (CDMS), varies from several months to more than 10 years (10-15% of cases, generally called benign RRMS). This delay is generally associated with the number and location of demyelinating lesions of the brain and spinal cord and the results of CSF analysis. Several studies comparing different MRI criteria for dissemination in space and dissemination in time of demyelinating lesions, two hallmarks of MS, provided enough substantial data to update diagnostic criteria for MS after a CIS. In the last revision of the McDonald's criteria in 2010, diagnostic criteria were simplified and now the diagnosis can be made by a single initial scan that proves the presence of active asymptomatic lesions (with gadolinium enhancement) and of unenhanced lesions. However, time to conversion remains highly unpredictable for a given patient and CIS can remain isolated, especially for idiopathic unilateral optic neuritis or myelitis. Univariate analyses of clinical, radiological, biological or electrophysiological characteristics of CIS patients in small series identified numerous risk factors of rapid conversion to MS. However, large series of CIS patients analyzing several characteristics of CIS patients and the influence of disease modifying therapies brought important information about the risk of CDMS or RRMS over up to 20 years of follow-up. They confirmed the importance of the initial MRI pattern of

  4. Epithelioid and fusiform blue nevus of chronically sun-damaged skin, an entity distinct from the epithelioid blue nevus of the Carney complex.

    PubMed

    Yazdan, Pedram; Haghighat, Zahra; Guitart, Joan; Gerami, Pedram

    2013-01-01

    Epithelioid blue nevus (EBN) was first described in patients with Carney complex (CNC) and subsequently shown to also occur sporadically. Over 50% of patients with CNC harbor mutations in the gene PRKAR1A, which codes for protein kinase A regulatory subunit 1α (R1α) involved in the signaling pathway regulating melanogenesis and melanocytic proliferation. Immunohistochemical expression of R1α has been shown to be absent in the majority of pigmented epithelioid melanocytomas and all CNC-associated EBNs but present in melanomas and other melanocytic nevi. We have observed several examples of EBN occurring in chronically sun-damaged (CSD) skin with a predominance of epithelioid morphology but also containing a component of fusiform and conventional blue nevus cells, which we have termed epithelioid and fusiform blue nevus of CSD skin. Several of these cases demonstrated notable pleomorphism and nuclear atypia with rare mitotic activity raising concern for the possibility of melanoma; however, the clinical outcomes, detailed histologic review, and molecular results were most consistent with a benign melanocytic neoplasm. We report our clinical, histopathologic, immunohistochemistry, and fluorescence in situ hybridization experience with this distinct entity of epithelioid and fusiform blue nevus and demonstrate that it is a unique subtype of blue nevus occurring on CSD skin with a higher frequency of an associated conventional blue nevus component compared with EBN and without association with CNC or loss of R1α expression typically found in pigmented epithelioid melanocytoma and CNC-associated EBN. We also postulate that the epithelioid pattern may represent a subclone of the conventional blue nevus component induced by chronic UV damage. PMID:22892599

  5. Flat pigmented macules on sun-damaged skin of the head/neck: junctional nevus, atypical lentiginous nevus, or melanoma in situ?

    PubMed

    Zalaudek, Iris; Cota, Carlo; Ferrara, Gerardo; Moscarella, Elvira; Guitera, Pascale; Longo, Caterina; Piana, Simonetta; Argenziano, Giuseppe

    2014-01-01

    The clinical recognition of lentigo maligna (LM) in the mottled chronic sun-damaged skin can be challenging, because it shares many clinical features with other pigmented macules that commonly arise on sun-damaged skin. These include solar lentigo, flat seborrheic keratosis, and pigmented actinic keratosis, but almost never "nevus." The reason nevus is not included in the differential diagnosis of LM can be explained by the fact that the stereotypical appearance of a facial nevus differs remarkably from that of an LM. Facial nevi in adults are usually nodular, dome-shaped, well-defined, and hypopigmented (i.e., intradermal nevus of the Miescher type), whereas LM typically appears as a flat, ill-defined, and pigmented macule. Although this concept based on clinical observations sounds reasonable, clinicians apply it often only unconsciously and accept a given histopathologic diagnosis of a "junctional or lentiginous nevus" of a flat pigmented facial macule without the necessary criticism about its clinicopathologic validity. PMID:24314381

  6. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary.

    PubMed

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  7. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary

    PubMed Central

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-01-01

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows. PMID:24957740

  8. Huge Nevus Lipomatosus Cutaneous Superficialis on Back: An Unusual Presentation

    PubMed Central

    Das, Dipti; Das, Anupam; Bandyopadhyay, Debabrata; Kumar, Dhiraj

    2015-01-01

    Nevus lipomatosus cutaneous superficialis (NLCS) is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation. PMID:26120161

  9. Desmoplastic Melanocytic Nevus of Oral Mucosa.

    PubMed

    Damm, Douglas D; Fowler, Craig B; Schmidt, David P

    2016-09-01

    The desmoplastic melanocytic nevus is an uncommon variant that easily may be confused with a fibrohistiocytic neoplasm or a desmoplastic melanoma. It is believed that the following report describes the first known example of a desmoplastic melanocytic nevus arising in the oral mucosa. The histopathologic and immunohistochemical features that allow separation from other microscopically similar pathoses are stressed. PMID:26747459

  10. Anatomical and clinical aspects of Klinefelter's syndrome.

    PubMed

    Bird, Rebecca J; Hurren, Bradley J

    2016-07-01

    Klinefelter's syndrome, the most common sex disorder associated with chromosomal aberrations, is characterized by a plethora of clinical features. Parameters for diagnosis of the syndrome are constantly expanding as new anatomical and hormonal abnormalities are noted, yet Klinefelter's remains underdiagnosed and underreported. This review outlines the key anatomical characteristics associated with the syndrome, which are currently used for clinical diagnosis, or may provide means for improving diagnosis in the future. Clin. Anat. 29:606-619, 2016. © 2016 Wiley Periodicals, Inc. PMID:26823086

  11. Clinical Features of Turner Syndrome

    MedlinePlus

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  12. In the Clinic. Carpal Tunnel Syndrome.

    PubMed

    Kleopa, Kleopas A

    2015-09-01

    This issue provides a clinical overview of carpal tunnel syndrome, focusing on screening and prevention, diagnosis, and treatment. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers. PMID:26322711

  13. In the Clinic. Restless Legs Syndrome.

    PubMed

    Bertisch, Suzanne

    2015-11-01

    This issue provides a clinical overview of restless legs syndrome, focusing on diagnosis, treatment, and practice improvement. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including MKSAP (Medical Knowledge and Self-Assessment Program). Annals of Internal Medicine editors develop In the Clinic in collaboration with the ACP's Medical Education and Publishing divisions and with the assistance of additional science writers and physician writers. PMID:26524584

  14. Atypical Spitz Tumor Arising on a Congenital Linear Plaque-Type Blue Nevus: A Case Report With a Review of the Literature on Plaque-Type Blue Nevus

    PubMed Central

    Guadagno, Antonio; Campisi, Caterina; Cabiddu, Francesco; Kutzner, Heinz; Parodi, Aurora; Fiocca, Roberto

    2015-01-01

    Abstract: The plaque-type blue nevus (PTBN) is a rare variant of blue nevus, of which only a few reports are described. A nodular growth within a preexistent PTBN should always alert to the possibility of malignant transformation. The authors report the first case of an atypical Spitz tumor arising on a congenital linear PTBN in a 60-year-old woman. The diagnosis of “atypical Spitz tumor” is here used to describe a microscopic “gray zone” in which it is not possible to differentiate with adequate certainty between a Spitz nevus and a spitzoid melanoma. This report adds to and summarizes the small body of literature describing PTBN and discusses diagnostic and clinical implications. PMID:25943242

  15. A Case of Eccrine Nevus

    PubMed Central

    Kang, Min Ju; Kim, Jin Wou

    2008-01-01

    Eccrine nevi are very rare cutaneous lesions which may or may not be accompanied by localized hyperhidrosis. Histological findings usually reveal a slightly increased number of eccrine glands without any other abnormalities. Herein we present a case of eccrine nevus not associated with localized hyperhidrosis on the left wrist of a 6-year-old girl. The lesion was a brownish, ovoid plaque approximately 1.0 × 1.5 cm in size, with a hyperkeratotic, slightly scaly papule in the center. It was treated by surgical excision. PMID:27303155

  16. NEVUS DEPIGMENTOSUS ASSOCIATED WITH NEVUS SPILUS: FIRST REPORT IN THE WORLD LITERATURE.

    PubMed

    Chokoeva, A; Wollina, U; Lotti, T; Tana, C; Tchernev, G

    2015-11-01

    Nevus depigmentosus is a congenital, non-progressive, well-circumscribed hypopigmented macule, seen usually at birth, or within the first years of life. Its incidence is considered as rare, with prevalence from 0.4% to 3%. The etiopathogenesis in not fully understood, although a defect in the transfer of melanosomes from melanocytes to keratinocytes has been reported. In contrast, a sharply margined hyperpigmented macule of various sizes and shapes is known as Nevus spilus - the congenital type of a Becker's nevus. The association between nevus depigmentosus and nevus spilus is extremely rare, as the incidence, as well as the etiopathogenesis of this unilateral coexistence of such double presented pigmented disorder is unknown, due to the limited literature data reported as an example of twin spotting. We present an unusual case of nevus depigmentosus in association with nevus spilus. As far as our knowledge, this is the first report of such presentation in a young female patient. Various regiments are described as therapeutic options, such as PUVA, excimer laser, intensive pulsed light, Q-switched Alexandrite laser, Q-switched alexandrite laser and different grafting techniques, are reported as successful treatment of Nevus spilus, however not always effective in other Nevus depigmentosus. PMID:26656555

  17. A Case of Intradermal Melanocytic Nevus with Ossification (Nevus of Nanta)

    PubMed Central

    Lee, Young Bok; Lee, Kyung Ho

    2008-01-01

    A 49-year-old woman presented with a 30-year history of asymptomatic plaque on her right temple. The histological examination revealed nests of nevus cells throughout the entire dermis. Bony spicules were seen just beneath the nevus cell nests in the lower dermis. Cutaneous ossification is an unusual event. Herein, we present a case of intradermal melanocytic nevus with unusual ossification (nevus of Nanta). To the best of our knowledge, this is the first such case report in the Korean literature. PMID:27303191

  18. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy. PMID:26971503

  19. Molecular and Clinical Aspects of Angelman Syndrome

    PubMed Central

    Dagli, A.; Buiting, K.; Williams, C.A.

    2012-01-01

    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity. PMID:22670133

  20. Clinical spectrum of Silver - Russell syndrome.

    PubMed

    Varma, Sapna N K; Varma, Balagopal R

    2013-07-01

    Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter. PMID:24124306

  1. Genetics Home Reference: giant congenital melanocytic nevus

    MedlinePlus

    ... noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes . It is present from ... called neurocutaneous melanosis, which is the presence of pigment-producing skin cells (melanocytes) in the tissue that ...

  2. Reye's syndrome: a clinical review.

    PubMed Central

    Crocker, J F; Bagnell, P C

    1981-01-01

    Reye's syndrome is a virus-associated biphasic disease that causes acute encephalopathy in infants and children. Epidemiologic and experimental data support the hypothesis that it is a multifactorial disease of modern civilization. Just as young patients seem to be recovering uneventfully from the first phase of the illness, usually a nonspecific viral-like illness such as a respiratory tract infection or gastroenteritis, the second phase, encephalopathy, starts unexpectedly, with vomiting and sensorial changes. Identifying the syndrome early ;in the second phase and referring the child to a specialized centre with the experience, staff and facilities to manage this phase has improved the numbers and neurologic condition of survivors, though the overall mortality is still about 20%. Therapy is primarily directed at facilitating adequate cerebral perfusion pressure. PMID:6783291

  3. Short QT Syndrome in Current Clinical Practice.

    PubMed

    Khera, Sahil; Jacobson, Jason T

    2016-01-01

    Short QT syndrome is a rare inherited autosomal dominant cardiac channelopathy associated with malignant ventricular and atrial arrhythmias. A shortened corrected QT interval is a marker for risk of malignant arrhythmias, which are secondary to increased transmural dispersion of repolarization. The underlying gain of function mutations in the potassium channels are most common but genetic testing remains low yield. This review discusses the cellular mechanisms, genetic involvement, clinical presentation, and current recommended management of patients with short QT syndrome relevant to current clinical practice. PMID:26440650

  4. Clinical laboratory studies in Barth Syndrome.

    PubMed

    Vernon, Hilary J; Sandlers, Yana; McClellan, Rebecca; Kelley, Richard I

    2014-06-01

    Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several comprehensive clinical studies of Barth Syndrome have been published detailing cardiac and hematologic features, descriptions of its biochemical characteristics are limited. To gain a better understanding of the clinical biochemistry of this rare disease, we measured hematologic and biochemical values in a cohort of Barth Syndrome patients. We characterized multiple biochemical parameters, including plasma amino acids, plasma 3-methylglutaconic acid, cholesterol, cholesterol synthetic intermediates, and red blood cell membrane fatty acid profiles in 28 individuals with Barth Syndrome from ages 10 months to 30 years. We describe a unique biochemical profile for these patients, including decreased plasma arginine levels. We further studied the plasma amino acid profiles, cholesterol, cholesterol synthetic intermediates, and plasma 3-methylglutaconic acid levels in 8 female carriers and showed that they do not share any of the distinct, Barth Syndrome-specific biochemical laboratory abnormalities. Our studies augment and expand the biochemical profiles of individuals with Barth Syndrome, describe a unique biochemical profile for these patients, and provide insight into the possible underlying biochemical pathology in this disorder. PMID:24751896

  5. Neurofibroma and lipoma in association with giant congenital melanocytic nevus coexisting in one nodule: a case report.

    PubMed

    Shang, Zhiwei; Dai, Tao; Ren, Yongqiang

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) are rare conditions that defined as melanocytic lesion recognized at birth, which will reach a diameter larger than 20 cm, and they occur in about 1 per 500,000 newborns. Despite its rarity, they may associate with severe abnormalities like spina bifida occulta, meningocele, club foot and hypertrophy or atrophy of deeper structures of a limb, Carney complex, premature aging syndromes, neurofibroma, vitiligo, lipoma and dysplasia of bilateral hip impact on the patient. In this case, we report a 3-years-old male child presenting a GCMN with large, blackish, and thick nevus covering over the entire neck, back, and lower to the waist level. We highlight the importance of proper histopathological examination of the biopsy taken from the single huge nodule which revealed features of both neurofibroma and lipoma coexisting. The objective of this paper is to report a rare case with the clinical and pathologic findings. PMID:26379904

  6. Noonan syndrome: introduction and basic clinical features.

    PubMed

    Rohrer, T

    2009-12-01

    Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, etiology, diagnosis and genetics of NS, as well as growth, skeletal and gonadal anomalies, pubertal development, ophthalmic and cutaneous abnormalities and the incidence of cancer in patients with NS. PMID:20029230

  7. Joubert syndrome: the clinical and radiological findings.

    PubMed

    Karakas, Ekrem; Cullu, Nesat; Karakas, Omer; Calik, Mustafa; Boyaci, Fatima Nurefsan; Yildiz, Sema; Cece, Hasan; Akal, Ali

    2014-01-01

    Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypotonia. Episodic hyperpnoea attacks were observed in one case. Facial dysmorphism was the most common additional systemic anomaly and four cases had additional opthalmic findings. Brain MRI examination revealed that all cases had molar tooth sign, bat-wing appearance and vermian cleft. The majority of cases also had vermian hypoplasia. Cerebellar folial disorganisation was observed in approxiamtely half of the cases. Three cases had corpus callosum anomaly and atretic occipital encephalocoele. No pathology was determined in other organs. This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome. PMID:24605724

  8. Frequently Asked Questions about Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Groups Past Conferences 2012 Conference 2010 Conference 2010 Memory Video Order Form 2008 Conference Testimonial: Robert Brown ... Photography (TBP) The 2010 International Nevus Outreach Conference Memory DV Welcome to the new Nevus Outreach website! ...

  9. Histopathologic and mutational analysis of a case of blue nevus-like melanoma.

    PubMed

    Dai, Julia; Tetzlaff, Michael T; Schuchter, Lynn M; Elder, David E; Elenitsas, Rosalie

    2016-09-01

    Blue nevi are a heterogeneous group of dermal melanocytic proliferations that share a common clinical appearance but remain controversial in their histopathologic and biologic distinction. While common blue nevi and cellular blue nevi are well-defined entities that are classified without significant controversy, the distinction between atypical cellular blue nevi and blue nevus-like melanoma remains diagnostically challenging. We report a case of a 46-year-old female with recurrent blue nevus-like melanoma of the scalp with liver metastases; mutational analysis showed GNA11 Q209L and BAP1 Q393 mutations. To our knowledge, this is the first case of blue nevus-like melanoma with GNA11 and BAP1 mutations. These particular mutations and the predilection for liver metastases in our patient's case underscore a fundamental biological relationship between blue nevi and uveal melanoma and suggest the two entities may prove amenable to similar diagnostic and prognostic testing and targeted therapies. PMID:27152652

  10. [Clinical research progress in infantile nystagmus syndrome].

    PubMed

    Zong, Yao; Wang, Li-hua

    2013-07-01

    Infantile nystagmus syndrome (INS) is an ocular motor disorder that presents at birth or early infancy. It is clinically characterized by involuntary and conjugated oscillation of the eyes, which often causes several complications such as amblyopia, lateral view, strabismus and torticollis. The etiology of INS is not fully understood, and this disease cannot be cured completely. This paper reviews the progress of research on the concept, etiology and pathogenesis, clinical manifestations, common examination methods, diagnosis and treatment of INS. PMID:24257363

  11. A recurrent melanocytic nevus phenomenon in the setting of Hailey-Hailey disease.

    PubMed

    Noor, Omar; Elston, Dirk; Flamm, Alexandra; Hall, Lawrence D; Cha, Jisun

    2015-08-01

    Atypical acquired melanocytic nevi in patients with epidermolysis bullosa (EB) have been referred to as EB nevi and are considered to be a type of recurrent nevus with atypical but distinctive histopathologic findings. Herein, we describe an atypical nevus in a patient with Hailey-Hailey disease with different histopathologic findings from EB nevi because of presumably different pathogenesis. It is important to be aware that the recurrent nevi phenomenon can be seen in acantholytic conditions as well as blistering disorders, given these lesions may clinically resemble melanoma. PMID:25950447

  12. RIN2 syndrome: Expanding the clinical phenotype.

    PubMed

    Rosato, Simonetta; Syx, Delfien; Ivanovski, Ivan; Pollazzon, Marzia; Santodirocco, Daniela; De Marco, Loredana; Beltrami, Marina; Callewaert, Bert; Garavelli, Livia; Malfait, Fransiska

    2016-09-01

    Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the expansion of the clinical phenotype in additional families, it was subsequently coined RIN2 syndrome. Hallmark features of this condition include dysmorphic facial features with striking, progressive facial coarsening, sparse hair, normal to enlarged occipitofrontal circumference, soft redundant and/or hyperextensible skin, and scoliosis. Patients with RIN2 syndrome present phenotypic overlap with other conditions, including EDS (especially the dermatosparaxis and kyphoscoliosis subtypes). Here, we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis. We provide an overview of the clinical findings in all reported patients with RIN2 mutations and summarize some of the possible pathogenic mechanisms that may underlie this condition. © 2016 Wiley Periodicals, Inc. PMID:27277385

  13. Kallmann's syndrome: clues to clinical diagnosis.

    PubMed

    John, H; Schmid, C

    2000-04-01

    Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies. PMID:11052640

  14. Noonan syndrome and clinically related disorders

    PubMed Central

    Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

    2010-01-01

    Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

  15. Nevus

    MedlinePlus

    ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Academy Publications EyeNet Ophthalmology ... Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Find an Ophthalmologist Advanced ...

  16. Comparison of clinical efficacy and complications between Q-switched alexandrite laser and Q-switched Nd:YAG laser on nevus of Ota: a systematic review and meta-analysis.

    PubMed

    Yu, Panxi; Yu, Nanze; Diao, Wenqi; Yang, Xiaonan; Feng, Yongqiang; Qi, Zuoliang

    2016-04-01

    Although the application of Q-switched lasers on nevus of Ota (OTA) is well demonstrated, debates about clinical option between Q-switched alexandrite laser (QSA) and Q-switched Nd:YAG laser (QSNY) still remain. This systematic review and meta-analysis estimated the overall successful rate of OTA pigment clearance and complication rate of QSA and QSNY and evaluated which laser could produce a better result. English articles evaluating pigment clearance and complications of QSA and/or QSNY on OTA were screened through predetermined inclusion and exclusion criteria and analyzed. The successful rate of pigment clearance and complication rate of QSA and QSNY were respectively calculated using a random-effects or fixed-effects model, depending on the heterogeneity of the included studies. The successful rate and complication rate of QSA and QSNY were compared statistically. Of the 140 articles searched, 13 met inclusion criteria. Totally, 2153 OTA patients treated by QSA and 316 patients treated by QSNY were analyzed. In QSA and QSNY groups, respectively, the successful rate of OTA pigment clearance was 48.3% (95% confidence interval (CI) 19.9-76.8%) and 41% (95% CI 9.7-72.2%), while the complication rate was 8.0% (95% CI 3.9-12.2%) and 13.4% (95% CI 7.7-19.0%). When compared with QSNY, QSA had a significantly higher successful rate (P = 0.017), and a lower complication rate (P = 0.000). According to this review, QSA may surpass QSNY in treatment for OTA as it had a superior successful rate of pigment clearance and a lower complication rate than QSNY did. PMID:26861980

  17. Drug Hypersensitivity: Pharmacogenetics and Clinical Syndromes

    PubMed Central

    Phillips, Elizabeth J.; Chung, Wen-Hung; Mockenhaupt, Maja; Roujeau, Jean-Claude; Mallal, Simon A.

    2011-01-01

    Severe cutaneous adverse reactions (SCARs) include syndromes such as drug reaction, eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes including abacavir hypersensitivity reaction, allopurinol DRESS/DIHS and SJS/TEN and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of SCARs. The roll-out of HLA-B*5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs such as carbamazepine where the positive predictive value of HLA-B*1502 is low and the negative predictive value of HLA-B*1502 for SJS/TEN may not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotype standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes. PMID:21354501

  18. Rett Syndrome: Reaching for Clinical Trials.

    PubMed

    Pozzo-Miller, Lucas; Pati, Sandipan; Percy, Alan K

    2015-07-01

    Rett syndrome (RTT) is a syndromic autism spectrum disorder caused by loss-of-function mutations in MECP2. The methyl CpG binding protein 2 binds methylcytosine and 5-hydroxymethycytosine at CpG sites in promoter regions of target genes, controlling their transcription by recruiting co-repressors and co-activators. Several preclinical studies in mouse models have identified rational molecular targets for drug therapies aimed at correcting the underlying neural dysfunction. These targeted therapies are increasingly translating into human clinical trials. In this review, we present an overview of RTT and describe the current state of preclinical studies in methyl CpG binding protein 2-based mouse models, as well as current clinical trials in individuals with RTT. PMID:25861995

  19. Congenital melanocytic nevus: two clinicopathological forms.

    PubMed

    Magaña, Mario; Sánchez-Romero, Elizabeth; Magaña, Pablo; Beck-Magaña, Andrés; Magaña-Lozano, Mario

    2015-01-01

    Congenital melanocytic nevus (CMN) is a hamartomatous disease for which many attempts at classification have been proposed. This disease is relevant not only because of its functional and esthetic implications but also because it is a well-documented precursor to malignant melanoma. We performed a clinical and pathological prospective study of 200 cases of CMN and were able to identify 2 different forms of CMN, each one with biological, clinical, and histopathological features and criteria that are consistent and repeatable. We propose to name them types I and II. Type I CMN is the most common, usually, if not always, a single lesion, it consists of a plaque that involves only 1 anatomic region and does not go beyond it; type I CNM grows in proportion to the growth of the child, melanoma rarely develops from it, and when it does it usually arises at the dermoepidermal junction. Its histopathology shows cords, strands, nests, and single units of melanocytes spreading between collagen bundles only in the dermis and frequently the epidermis too, but without trespassing to the hypodermis, that is, it is superficial. Type II CMN is always made up of many lesions, one of them being very large and surrounded by many lesions; histopathologically, it involves not only the skin but also deeper structures, sometimes bone and central nervous system; therefore, it is deep; when melanoma develops, it does in the dermal component and usually from the largest plaque. This type of CMN is the one that develops neurocutaneous melanocytosis. This system is not only easy and logical but it also has biologic advantages and the clinical-pathological correlation and criteria are repeatable by clinicians and pathologists. PMID:25140664

  20. Cough hypersensitivity syndrome: a distinct clinical entity.

    PubMed

    Morice, A H; Faruqi, S; Wright, C E; Thompson, R; Bland, J M

    2011-02-01

    We postulate that most patients with chronic cough have a single discrete clinical entity: cough hypersensitivity syndrome. We constructed a questionnaire that elicits the major components of the syndrome. Here we describe the validation of this questionnaire. Following iterative development, the Hull Airway Reflux Questionnaire (HARQ) was administered to patients and normal volunteers. It is self-administered and comprises 14 items with a maximum score of 70. Unselected patients were recruited sequentially from the Hull Cough Clinic. Preclinic questionnaires were compared with those obtained at the clinic. Responsiveness was assessed 2 months after the clinic visit. One hundred eighty-five patients and 70 normal volunteers were included in this study. There was a marked difference in HARQ scores between patients with chronic cough and normal volunteers. The sensitivity (94%) and specificity (95%) of the HARQ was high, with an area under the ROC curve of 0.99. All items of the scale significantly correlated positively with others in the scale and with the total score. On repeatability testing using Cohen's kappa with quadratic weights, significant agreement was noted for all items. Good correlation was observed between the total scores (r = 0.78). The questionnaire was also responsive to treatment; the minimum clinically significant change was estimated to be 16 points. We have demonstrated the HARQ to have good construct and criterion validity. It is both reproducible and responsive to change. It can be used as a diagnostic instrument and demonstrates that chronic cough represents a single coherent entity: cough hypersensitivity syndrome. PMID:21240613

  1. [Sharp's syndrome. Clinical, immunological and nosographic aspects].

    PubMed

    Scagliusi, P; Muratore, M; Martiradonna, A; Berlingerio, G; Carrozzo, M

    1980-12-15

    LE cells, ds-DNA antibodies (radioimmunoassay), antinuclear antibodies (ANA) by indirect immunofluorescence (IFI) and anti-ENA antibodies have been sought in 150 clinical cases observed over a 5-year period in the Rheumatology Division of Bari University. For the latter, three parallel techniques were adopted on each serum, each completed by RNA-sensitivity assay for the demonstration of anti-RNP, i.e. IFI, passive haemoagglutination (PHA) and controimmunoelectrophoresis (CIE). The series included systemic lupus erythematodes (SLE), 30 cases; rheumatoid arthritis (RA), 30 cases; progressive systemic sclerosis (PSS), 12 cases; unclassified connective tissue disease (UCTD), 8 cases; mixed connective tissue disease (MCTD), 7 cases; Sjögren's syndrome (SS), 4 cases; dermatomyositis (DM), 3 cases; overlap syndromes (PSS-SLE, SS-SLE), 2 cases; rheumatological and internal miscellanea, 54 cases, LE cells and ds-DNA antibodies were found exclusively in SLE; the anti-ENA were found in various groups of diseases, while the anti-RNP were only demonstrated in the 7 MCTD and in some SLE. Of the three techniques for demonstrating anti-ENA, the PHA proved most sensitive and CIE most specific, whereas IFI was considered most suitable for clinical screening. The clinical aspects of the 7 MCTD faithfully followed the disease picture described by Sharp, but some overlap-syndromes and the unclassified connective tissue diseases did not present anti-RNP. It is also pointed out that nephropathy is not rare in MCTD and that the clinical course of the disease is not always benign. To conclude, it is considered that MCTD merits nosographic autonomy, but further investigations are recommended for more exact nosographical typing of connective tissue diseases. PMID:6161325

  2. Prader-Willi Syndrome: Clinical Aspects

    PubMed Central

    Elena, Grechi; Bruna, Cammarata; Benedetta, Mariani; Stefania, Di Candia; Giuseppe, Chiumello

    2012-01-01

    Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications. During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life. Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy. PMID:23133744

  3. The clinics of acute coronary syndrome

    PubMed Central

    Rastelli, Gianni

    2016-01-01

    Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt. PMID:27294087

  4. The clinics of acute coronary syndrome.

    PubMed

    Cervellin, Gianfranco; Rastelli, Gianni

    2016-05-01

    Risk stratification and management of patients with chest pain continues to be challenging despite considerable efforts made in the last decades by many clinicians and researchers. The throutful evaluation necessitates that the physicians have a high index of suspicion for acute coronary syndrome (ACS) and always keep in mind the myriad of often subtle and atypical presentations of ischemic heart disease, especially in certain patient populations such as the elderly ones. In this article we aim to review and discuss the available evidence on the value of clinical presentation in patients with a suspected ACS, with special emphasis on history, characteristics of chest pain, associated symptoms, atypical presentations, precipitating and relieving factors, drugs, clinical rules and significance of clinical Gestalt. PMID:27294087

  5. Pineal region tumors: Clinical symptoms and syndromes.

    PubMed

    Rousselle, C; des Portes, V; Berlier, P; Mottolese, C

    2015-01-01

    The present paper investigates the clinical picture and the different clinical signs that reveal pineal region tumors or appear during the course of the follow-up. Biological malignancy and tumor extension determine the semiology and its setting up mode. Typical endocrine signs, dominated by abnormal puberty development, are frequently a part of the clinical scene. Bifocal or ectopic localization in the hypothalamic-pituitary region is accompanied by other endocrine signs such as ante- or post-pituitary insufficiencies which occur several months or even years after the first neurological signs appear. Due to a mass syndrome and obstructive hydrocephalus, intracranial hypertension signs are frequent but unspecific. A careful ophthalmologic examination is essential to search upward gaze paralysis and other signs of the Parinaud's tetrad or pentad. Midbrain dysfunction, including extrinsic aqueduct stenosis, are also prevalent. Except for abnormal pubertal signs, hyper-melatoninemia (secretory tumors) or a-hypo-melatoninemia (tumors destructing pineal) generally remains dormant. Some patients present sleep problems such as narcolepsy or sleepiness during the daytime as well as behavioral problems. This suggests a hypothalamic extension rather than a true consequence of melatonin secretion anomalies. Similarly, some patients may present signs of a "pinealectomized" syndrome, including (cluster) headaches, tiredness, eventually responsive to melatonin. PMID:24439798

  6. Kabuki syndrome: clinical and molecular characteristics.

    PubMed

    Cheon, Chong-Kun; Ko, Jung Min

    2015-09-01

    Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS. PMID:26512256

  7. Kabuki syndrome: clinical and molecular characteristics

    PubMed Central

    Cheon, Chong-Kun

    2015-01-01

    Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS. PMID:26512256

  8. [Asperger syndrome. Diagnosis criteria and clinical picture].

    PubMed

    Wahlberg, Ernesto

    2005-01-01

    Asperger syndrome (A.S) is not a very well-known disorder due to its recent incorporation to the international nosography of mental disorders during the early 90s. The intention of this article is to describe the clinical picture with its symptomatic diversity. It will show how the diagnostic criteria were developed since the presentation by Asperger in 1944, to the classification consensed nowadays. It also presents the situations in which this diagnosis is most frequent to facilitate its detection and to permit a more extensive assessment leading to a more accurate treatment. PMID:16077869

  9. GLUT1 deficiency syndrome in clinical practice.

    PubMed

    Klepper, Joerg

    2012-07-01

    GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. PMID:21382692

  10. Spitz nevus: follow-up study of 8 cases of childhood starburst type and proposal for management.

    PubMed

    Nino, Massimiliano; Brunetti, Bruno; Delfino, Sergio; Brunetti, Beniamino; Panariello, Luigia; Russo, Daniela

    2009-01-01

    Spitz nevus is an uncommon, benign melanocytic neoplasm that shares many clinical and histological features with melanoma. It presents clinical ambiguity that makes the diagnosis and management of the patient difficult. We present our experience in the management of Spitz nevus by rigorous dermoscopic long-term follow-up of 8 Spitz nevi in patients younger than 12 years. Dermoscopic images, acquired every 6 months, show evolution and modifications of these lesions. The aim of this paper is to better understand the long-term modifications of nevi with starburst pattern to avoid surgical excision of these lesions in the pediatric age group. PMID:18832809

  11. Acute respiratory distress syndrome: A clinical review

    PubMed Central

    Donahoe, Michael

    2011-01-01

    The acute respiratory distress syndrome (ARDS) is a complex disorder of heterogeneous etiologies characterized by a consistent, recognizable pattern of lung injury. Extensive epidemiologic studies and clinical intervention trials have been conducted to address the high mortality of this disorder and have provided significant insight into the complexity of studying new therapies for this condition. The existing clinical investigations in ARDS will be highlighted in this review. The limitations to current definitions, patient selection, and outcome assessment will be considered. While significant attention has been focused on the parenchymal injury that characterizes this disorder and the clinical support of gas exchange function, relatively limited focus has been directed to hemodynamic and pulmonary vascular dysfunction equally prominent in the disease. The limited available clinical information in this area will also be reviewed. The current standards for cardiopulmonary management of the condition will be outlined. Current gaps in our understanding of the clinical condition will be highlighted with the expectation that continued progress will contribute to a decline in disease mortality. PMID:22034606

  12. A clinical study of Noonan syndrome.

    PubMed Central

    Sharland, M; Burch, M; McKenna, W M; Paton, M A

    1992-01-01

    Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were present in 76% of the group. Although the children were short (50% with a height less than 3rd centile), and underweight (43% with a weight less than 3rd centile), the mean head circumference of the group was on the 50th centile. Motor milestone delay was usual, the cohort having a mean age of sitting unsupported of 10 months and walking of 21 months. Abnormal vision (94%) and hearing (40%) were frequent findings, but 89% of the group were attending normal primary or secondary schools. Other associations included undescended testicles (77%), hepatosplenomegaly (50%), and evidence of abnormal bleeding (56%). The mean age at diagnosis of Noonan syndrome in this group was 9.0 years. Earlier diagnosis of this common condition would aid both clinical management and genetic counselling. Images Figure 1 Figure 2 Figure 3 PMID:1543375

  13. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    PubMed Central

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J.

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome. PMID:25328750

  14. Good's Syndrome Accompanied by Agranulocytosis Following a Rapid Clinical Course.

    PubMed

    Okusu, Takahiro; Sato, Taiki; Ogata, Yoshitaka; Nagata, Shinpei; Kozumi, Kazuhiro; Kim, Sung-Ho; Yamamoto, Suguru; Yamayoshi, Shigeru

    2016-01-01

    Good's syndrome is an immunodeficiency disease involving thymoma accompanied by hypogammaglobulinemia. We encountered a case of Good's syndrome accompanied by agranulocytosis that followed a rapid clinical course. A 72-year-old man visited our hospital with a two-week history of a sore throat. Candida albicans was detected in the pharynx, and hypogammaglobulinemia was detected in addition to granulocytopenia. The patient subsequently developed septic shock and followed a rapid clinical course which ended in death. Good's syndrome with agranulocytosis was diagnosed at autopsy. Good's syndrome accompanied by agranulocytosis can follow a rapid clinical course and some cases remain asymptomatic until old age. Its prompt treatment is crucial. PMID:26935379

  15. Munchausen syndrome by proxy: ongoing clinical challenges.

    PubMed

    Squires, Janet E; Squires, Robert H

    2010-09-01

    In 1977, Roy Meadow, a pediatric nephrologist, first described a condition he subsequently coined Munchausen syndrome by proxy. The classic form involves a parent or other caregiver who inflicts injury or induces illness in a child, deceive the treating physician with fictitious or exaggerated information, and perpetrate the trick for months or years. A related form of pathology is more insidious and more common but also damaging. It involves parents who fabricate or exaggerate symptoms of illness in children, causing overly aggressive medical evaluations and interventions. The common thread is that the treating physician plays a role in inflicting the abuse upon the child. Failure to recognize the problem is common because the condition is often not included in the differential diagnosis of challenging or confusing clinical problems. We believe that a heightened "self-awareness" of the physician's role in Munchausen syndrome by proxy will prevent or reduce the morbidity and mortality associated with this diagnosis. In addition, we believe contemporary developments within the modern health care system likely facilitate this condition. PMID:20639771

  16. Pseudoexfoliation syndrome at a Singapore eye clinic

    PubMed Central

    Seng Lee, Jason Kian; Ying Wong, Elizabeth Poh; Ho, Su Ling

    2015-01-01

    Background The purpose of this study was to investigate the demographics of pseudoexfoliation syndrome (PXF) and pseudoexfoliative glaucoma (PXG) in a Singapore hospital eye outpatient clinic. Methods A retrospective study of 93 consecutive patients (146 eyes) with PXF was undertaken by a single ophthalmologist over a period of 37 months (July 1, 2006, to July 31, 2009). Results Ninety-three (2.8%) of 3,297 patients seen during the study period were diagnosed with PXF. Forty-three (46.2%) of the 93 PXF patients were male. Indians were 5.04 times more likely to develop PXF than Chinese (P<0.001, 95% confidence interval 3.05–8.33), while Malays were 2.22 times more likely to develop PXF as compared with Chinese (P=0.029, 95% CI 1.08–4.55). Twenty-two (23.7%) of the 93 PXF patients had PXG at the time of diagnosis. There was no statistically significant difference in mean age between PXF and PXG patients. There was a larger proportion of males with PXG than females (P<0.001). Conclusion PXF is not infrequent in elderly Singapore eye clinic patients, and is more likely to occur in Indians than in Chinese. In the Singapore eye clinic setting, males may be more likely to develop PXG, although larger studies will be required to confirm this. PMID:26366055

  17. Allan-Herndon syndrome. I. Clinical studies.

    PubMed Central

    Stevenson, R E; Goodman, H O; Schwartz, C E; Simensen, R J; McLean, W T; Herndon, C N

    1990-01-01

    A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia. Images Figure 2 Figure 3 PMID:2393019

  18. Prader-Willi Syndrome: Clinical and Genetic Findings

    PubMed Central

    Butler, Merlin G.; Thompson, Travis

    2016-01-01

    Since the initial medical description by Prader, Labhart and Willi in 1956 of individuals with overlapping features, the Prader-Willi syndrome has become recognized as a classical but sporadic genetic syndrome. Prader-Willi syndrome is the most common genetic cause of life-threatening obesity in humans. It is estimated that there are 350,000–400,000 people with this syndrome worldwide. Prader-Willi Syndrome Association USA knows of more than 3,400 persons with Prader-Willi syndrome in the USA out of an approximate 17,000–22,000. Prader-Willi syndrome with an incidence of 1 in 10,000 to 25,000 individuals and Angelman syndrome, an entirely different clinical condition, were the first examples in humans of genetic imprinting. Genetic imprinting or the differential expression of genetic information depending on the parent of origin plays a significant role in other conditions including malignancies.

  19. Irritable bowel syndrome: A clinical review

    PubMed Central

    Soares, Rosa LS

    2014-01-01

    Irritable bowel syndrome (IBS) remains a clinical challenge in the 21st century. It’s the most commonly diagnosed gastrointestinal condition and also the most common reason for referral to gastroenterology clinics. Its can affect up to one in five people at some point in their lives, and has a significantly impact of life quality and health care utilization. The prevalence varies according to country and criteria used to define IBS. Various mechanisms and theories have been proposed about its etiology, but the biopsychosocial model is the most currently accepted for IBS. The complex of symptoms would be the result of the interaction between psychological, behavioral, psychosocial and environmental factors. The diagnosis of IBS is not confirmed by a specific test or structural abnormality. It is made using criteria based on clinical symptoms such as Rome criteria, unless the symptoms are thought to be atypical. Today the Rome Criteria III is the current gold-standard for the diagnoses of IBS. Secure positive evidence of IBS by means of specific disease marker is currently not possible and cannot be currently recommended for routine diagnosis. There is still no clinical evidence to recommend the use of biomarkers in blood to diagnose IBS. However, a number of different changes in IBS patients were demonstrated in recent years, some of which can be used in the future as a diagnostic support. IBS has no definitive treatment but could be controlled by non-pharmacologic management eliminating of some exacerbating factors such certain drugs, stressor conditions and changes in dietary habits.The traditional pharmacologic management of IBS has been symptom based and several drugs have been used. However, the cornerstone of its therapy is a solid patient physician relationship. This review will provide a summary of pathophysiology, diagnostic criteria and current and emerging therapies for IBS. PMID:25232249

  20. Complete regression of a melanocytic nevus after epilation with diode laser therapy

    PubMed Central

    Boleira, Manuela; de Almeida Balassiano, Laila Klotz; Jeunon3, Thiago

    2015-01-01

    The use of lasers and intense pulsed light (IPL) technology has become an established practice in dermatology and aesthetic medicine. The use of laser therapy and IPL in the treatment of pigmented melanocytic lesions is a controversial issue. We report clinical, dermoscopic and histological changes of a completely regressed pigmented melanocytic nevus after hair removal treatment with the LightSheer™ Diode Laser (Lumenis Ltd, Yokneam, Israel). PMID:26114064

  1. Venous compression syndromes: clinical features, imaging findings and management

    PubMed Central

    Liu, R; Oliveira, G R; Ganguli, S; Kalva, S

    2013-01-01

    Extrinsic venous compression is caused by compression of the veins in tight anatomic spaces by adjacent structures, and is seen in a number of locations. Venous compression syndromes, including Paget–Schroetter syndrome, Nutcracker syndrome, May–Thurner syndrome and popliteal venous compression will be discussed. These syndromes are usually seen in young, otherwise healthy individuals, and can lead to significant overall morbidity. Aside from clinical findings and physical examination, diagnosis can be made with ultrasound, CT, or MR conventional venography. Symptoms and haemodynamic significance of the compression determine the ideal treatment method. PMID:23908347

  2. [Verrucose epidermal nevus with belated grow and pregnancy. Case report].

    PubMed

    Aguilera Martínez, Verónica; Cervantes Villarreal, Gustavo Enrique; Ramos Garibay, Alberto; Ruiz Mondragón, María Eugenia

    2007-10-01

    Verrucose epidermal nevus is a benign and congenital hyperplasia of the superficial epidermis and annexes. It expresses itself during the firs year of life, grows during childhood and in adolescence reaches its largest size. It can appear everywhere in skin surface. We present a case of late verrucose epidermal nevus with genital onset. Differential diagnosis was done with acuminated condylomas. PMID:18800583

  3. Linear psoriasis with porokeratotic eccrine ostial and dermal duct nevus.

    PubMed

    Yu, Hee-Joon; Ko, Joo-Youn; Kwon, Hyeok-Man; Kim, Jeong-Soo

    2004-05-01

    Linear psoriasis is an uncommon form of psoriasis characterized by the linear distribution of the psoriatic lesions. It usually follows the lines of Blaschko with unilateral involvement. Poro keratotic eccrine ostial and dermal duct (PEODD) nevus is another rare dermatosis that follows Blaschko's line. The pathogenesis of linear psoriasis and PEODD nevus is unclear, but both could be best explained by a specific somatic mutation. Hence, it has been suggested that the mutation responsible for PEODD nevus would constitute a rare but critical psoriasis gene. In the literature, 1 case of linear psoriasis with PEODD nevus was reported, which may support this suggestion. This article describes another case of linear psoriasis and PEODD nevus. A 7-year-old boy had a 4-month history of multiple psoriasiform plaques, arranged in linear distribution, and had congenital linear hyperkeratotic papules and pits on the right side of his trunk and right arm. PMID:15097935

  4. [Sturge-Weber syndrome].

    PubMed

    Reith, W; Yilmaz, U; Zimmer, A

    2013-12-01

    Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births [1]. The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369

  5. Cellular Blue Nevus Diagnosed following Excision of Melanoma: A Challenge in Diagnosis

    PubMed Central

    Jonjić, Nives; Dekanić, Andrea; Glavan, Nedeljka; Prpić-Massari, Larisa; Grahovac, Blaženka

    2016-01-01

    A case of a 41-year-old woman with a history of nodular melanoma (NM), associated with an indurated dome-shaped blue-black nodule with a diameter of 1.2 cm in the gluteal region, is presented. Clinical diagnosis of the lesion, present from birth, was blue nevus. Recently, the nodule has been showing a mild enlargement and thus complete resection was performed. Histological analysis revealed a pigmented lesion with an expansive pattern of extension into the dermis and the subcutaneous adipose tissue. The lesion displayed an alveolar pattern as well as a pigmented dendritic cell pattern. The histology was consistent with cellular blue nevus (CBN); however, the history of NM which was excised one year earlier, as well as the clinical information about the slow growing lesion, included a differential diagnosis of CBN, borderline melanocytic tumor, and malignant blue nevus. Additional immunohistochemical (HMB-45, p16, and Ki-67) and molecular (BRAF V600E mutation) analyses were performed on both lesions: the CBN-like and the previously excised NM. Along with lesion history and histological analyses, p16 staining and BRAF were useful diagnostic tools for confirming the benign nature of CBN in this case.

  6. LEOPARD Syndrome: Clinical Features and Gene Mutations

    PubMed Central

    Martínez-Quintana, E.; Rodríguez-González, F.

    2012-01-01

    The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations. PMID:23239957

  7. Smith-Magenis Syndrome: Genetic Basis and Clinical Implications

    ERIC Educational Resources Information Center

    Finucane, Brenda; Haas-Givler, Barbara

    2009-01-01

    Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional…

  8. [Reflexions on the Tietze syndrome. Clinical contribution].

    PubMed

    Pappalardo, A; Buccheri, C; Sallì, L; Nalbone, L

    1995-11-01

    The authors report 4 cases of Tietze's syndrome. In 3 of them the syndrome onset during a rheumatic disease (psoriatic arthritis, sternoclavicular hyperostosis). It is thus necessary to distinguish between the idiopathic of unknown ethiology and the secondary form due to, a well defined disease, in 3 cases observed. PMID:8720344

  9. Porokeratotic eccrine ostial and dermal duct nevus

    PubMed Central

    Bandyopadhyay, Debabrata; Saha, Abanti; Das, Dipti; Das, Anupam

    2015-01-01

    Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare nevoid condition characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities, having distinct porokeratotic histopathological features. The lesions usually present at birth or in childhood. We present here a case of late-onset PEODDN in a 23-year-old man who had lesions on the palm, forearm, arm and the chest along the lines of Blaschko, strictly localized to the left side of the body. PMID:25821735

  10. Tumor lysis syndrome: A clinical review

    PubMed Central

    Mirrakhimov, Aibek E; Voore, Prakruthi; Khan, Maliha; Ali, Alaa M

    2015-01-01

    Tumor lysis syndrome is an oncometabolic emergency resulting from rapid cell death. Tumor lysis syndrome can occur as a consequence of tumor targeted therapy or spontaneously. Clinicians should stratify every hospitalized cancer patient and especially those receiving chemotherapy for the risk of tumor lysis syndrome. Several aspects of prevention include adequate hydration, use of uric acid lowering therapies, use of phosphate binders and minimization of potassium intake. Patients at high risk for the development of tumor lysis syndrome should be monitored in the intensive care unit. Established tumor lysis syndrome should be treated in the intensive care unit by aggressive hydration, possible use of loop diuretics, possible use of phosphate binders, use of uric acid lowering agents and dialysis in refractory cases. PMID:25938028

  11. Clinical Audit of Gastrointestinal Conditions Occurring among Adults with Down Syndrome Attending a Specialist Clinic

    ERIC Educational Resources Information Center

    Wallace, Robyn A.

    2007-01-01

    Background: Adults with Down syndrome (DS) are predisposed to syndromic and environmental gastrointestinal conditions. Method: In a hospital-based clinic for adults with DS, a chart audit was conducted to assess the range and frequency of gastrointestinal conditions. Results: From January 2003 to March 2005, 57 patients attended the clinic,…

  12. Familial colorectal cancer syndromes: an overview of clinical management.

    PubMed

    Sammour, Tarik; Hayes, Ian P; Hill, Andrew G; Macrae, Finlay A; Winter, Des C

    2015-06-01

    Familial colorectal cancer syndromes pose a complex challenge to the treating clinician. Once a syndrome is recognized, genetic testing is often required to confirm the clinical suspicion. Management from that point is usually based on disease-specific guideline recommendations targeting risk reduction for the patient and their relatives through surgery, surveillance and chemoprophylaxis. The aim of this paper is to provide an up-to-date summary of the most common familial syndromes and their medical and surgical management, with specific emphasis on evidence-based interventions that improve patient outcome, and to present the information in a manner that is easily readable and clinically relevant to the treating clinician. PMID:25779305

  13. Clinical Syndromes among the Learning Disabled.

    ERIC Educational Resources Information Center

    Lewandowski, Lawrence J.

    1985-01-01

    Four physiological conditions associated with later learning disabilities are noted: Turner Syndrome (a chromosomal abnormality), preterm children with intracranial hemorrhage, children with incompletely developed connecting fibers between the cerebral hemispheres, and children with acquired brain injury. (CL)

  14. [Clinical studies of pediatric malabsorption syndromes].

    PubMed

    Hosoyamada, Takashi

    2006-11-01

    Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro

  15. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... visible large nevus . Reactions from the Inside Self Perception Because of the way they are treated, and/ ... but may feel they are not succeeding. Family Perceptions It is not uncommon for family members, especially ...

  16. Four Different Tumors Arising in a Nevus Sebaceous.

    PubMed

    Namiki, Takeshi; Miura, Keiko; Ueno, Makiko; Arima, Yumi; Nishizawa, Aya; Yokozeki, Hiroo

    2016-01-01

    Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. At the periphery of that node, structures resembling follicular germs extruded from interlacing cords in the upper portion and tumor nests with sebocytes were in the lower portion. In the erosive lesion, papillated structures with an apocrine epithelium were observed. In the light brown plaque, enlargement of sebaceous lobules was noted. From those histopathological features, a diagnosis of syringocystadenoma papilliferum, sebaceoma, trichoblastoma and basal cell carcinoma arising from a nevus sebaceous was made. We discuss the rarity of multiple tumors arising from a nevus sebaceous. PMID:27194974

  17. Four Different Tumors Arising in a Nevus Sebaceous

    PubMed Central

    Namiki, Takeshi; Miura, Keiko; Ueno, Makiko; Arima, Yumi; Nishizawa, Aya; Yokozeki, Hiroo

    2016-01-01

    Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. At the periphery of that node, structures resembling follicular germs extruded from interlacing cords in the upper portion and tumor nests with sebocytes were in the lower portion. In the erosive lesion, papillated structures with an apocrine epithelium were observed. In the light brown plaque, enlargement of sebaceous lobules was noted. From those histopathological features, a diagnosis of syringocystadenoma papilliferum, sebaceoma, trichoblastoma and basal cell carcinoma arising from a nevus sebaceous was made. We discuss the rarity of multiple tumors arising from a nevus sebaceous. PMID:27194974

  18. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

    PubMed

    Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen

    2013-12-01

    Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve. PMID:24214728

  19. Personality Disorders and Clinical Syndromes in ADHD Prisoners

    ERIC Educational Resources Information Center

    Gudjonsson, Gisli H.; Wells, June; Young, Susan

    2012-01-01

    Objective: The main objective of this article is to investigate the type of personality disorders and clinical syndromes (CSs) that were best related to ADHD symptoms among prisoners. Method: The authors screened for childhood and adult ADHD symptoms and administered the Millon Clinical Multiaxial Inventory-III (MCMI-III) to 196 serving prisoners.…

  20. High nevus counts confer a favorable prognosis in melanoma patients.

    PubMed

    Ribero, Simone; Davies, John R; Requena, Celia; Carrera, Cristina; Glass, Daniel; Rull, Ramon; Vidal-Sicart, Sergi; Vilalta, Antonio; Alos, Lucia; Soriano, Virtudes; Quaglino, Pietro; Traves, Victor; Newton-Bishop, Julia A; Nagore, Eduardo; Malvehy, Josep; Puig, Susana; Bataille, Veronique

    2015-10-01

    A high number of nevi is the most significant phenotypic risk factor for melanoma and is in part genetically determined. The number of nevi decreases from middle age onward but this senescence can be delayed in patients with melanoma. We investigated the effects of nevus number count on sentinel node status and melanoma survival in a large cohort of melanoma cases. Out of 2,184 melanoma cases, 684 (31.3%) had a high nevus count (>50). High nevus counts were associated with favorable prognostic factors such as lower Breslow thickness, less ulceration and lower mitotic rate, despite adjustment for age. Nevus count was not predictive of sentinel node status. The crude 5- and 10-year melanoma-specific survival rate was higher in melanomas cases with a high nevus count compared to those with a low nevus count (91.2 vs. 86.4% and 87.2 vs. 79%, respectively). The difference in survival remained significant after adjusting for all known melanoma prognostic factors (hazard ratio [HR] = 0.43, confidence interval [CI] = 0.21-0.89). The favorable prognostic value of a high nevus count was also seen within the positive sentinel node subgroup of patients (HR = 0.22, CI = 0.08-0.60). High nevus count is associated with a better melanoma survival, even in the subgroup of patients with positive sentinel lymph node. This suggests a different biological behavior of melanoma tumors in patients with an excess of nevi. PMID:25809795

  1. Clinical and diagnostic features of patients with suspected Klinefelter syndrome.

    PubMed

    Kamischke, Axel; Baumgardt, Arthur; Horst, Jürgen; Nieschlag, Eberhard

    2003-01-01

    Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the syndrome is often overlooked. To prevent such oversights, the clinical features should be better characterized, and simple screening tests should be used more frequently. In a cohort of 309 patients suspected of having Klinefelter syndrome, we evaluated the clinical symptoms as well as the diagnostic value of the Barr body test for screening procedures. On the basis of chromosome analysis, 85 patients (group I) were diagnosed as having Klinefelter syndrome, and 224 patients had a 46,XY karyotype (group II). Barr body analysis revealed a specificity of 95% and a sensitivity of 82% for the diagnosis of Klinefelter syndrome. General features (eg, reason for admission, age, age of the parents, body weight, and frequency of maldescended testes) were not different between the groups, except that group I had a higher proportion of patients with a lower educational background. Compared to group II, patients with Klinefelter syndrome were taller (P <.001); had smaller testis volumes (P <.0001), higher follicle-stimulating hormone (FSH) and luteinizing hormone (LH) values; and carried a tendency for less androgenic phenotype and secondary hair distribution. Testosterone, estradiol, sex hormone-binding globulin (SHBG), and prostate-specific antigen (PSA) serum levels as well as prostate volume were not significantly different between the groups. In patients who provided an ejaculate, azoospermia was found in 54% of the patients in group II and in 93% of the patients with Klinefelter syndrome. Although not exclusively characteristic for Klinefelter syndrome, the combination of low testicular volume and azoospermia, together with elevated gonadotropins, is highly indicative for a Klinefelter syndrome and should stimulate further clinical investigations. Barr body analysis provides a quick and reliable screening test

  2. Early onset marfan syndrome: Atypical clinical presentation of two cases

    PubMed Central

    Ozyurt, A; Baykan, A; Argun, M; Pamukcu, O; Halis, H; Korkut, S; Yuksel, Z; Gunes, T; Narin, N

    2015-01-01

    Early onset Marfan Syndrome (eoMFS) is a rare, severe form of Marfan Syndrome (MFS). The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system. PMID:26929908

  3. Rieger syndrome: a clinical, molecular, and biochemical analysis.

    PubMed

    Amendt, B A; Semina, E V; Alward, W L

    2000-10-01

    Rieger syndrome (RIEG 1; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder. PMID:11092457

  4. [Wolfram's syndrome: correlation of clinical signs and neurological images].

    PubMed

    Saiz, A; Vila, N; Muñoz, J E; Martí, M J; Graus, F; Tolosa, E

    1995-02-01

    Wolfram's syndrome is defined by the association of diabetes mellitus, diabetes insipidus, optic atrophy and nerve deafness. Other neurological anomalies, such as ataxia, nystagmus, tonic pupil, dizziness, dysarthria, dysphagia and epilepsy are rarely described and tend to appear later than the primary manifestations. We describe a patient with Wolfram's syndrome whose magnetic resonance image (MRI) of the head showed brainstem and cerebellar atrophy years before the appearance of clinical signs of brainstem disfunction. We conclude that alterations in MRI precede neurological symptoms by several years in Wolfram's syndrome. PMID:7695938

  5. Clinical management of the uraemic syndrome in chronic kidney disease.

    PubMed

    Vanholder, Raymond; Fouque, Denis; Glorieux, Griet; Heine, Gunnar H; Kanbay, Mehmet; Mallamaci, Francesca; Massy, Ziad A; Ortiz, Alberto; Rossignol, Patrick; Wiecek, Andrzej; Zoccali, Carmine; London, Gérard Michel

    2016-04-01

    The clinical picture of the uraemic syndrome is a complex amalgam of accelerated ageing and organ dysfunction, which progress in parallel to chronic kidney disease. The uraemic syndrome is associated with cardiovascular disease, metabolic bone disease, inflammation, protein energy wasting, intestinal dysbiosis, anaemia, and neurological and endocrine dysfunction. In this Review, we summarise specific, modern management options for the uraemic syndrome in chronic kidney disease. Although large randomised controlled trials are scarce, based on data from randomised controlled trials and observational studies, as well as pathophysiological reasoning, a therapeutic algorithm can be developed for this complex and multifactorial condition, with interventions targeting several modifiable factors simultaneously. PMID:26948372

  6. Nevus anemicus: a distinctive cutaneous finding in neurofibromatosis type 1.

    PubMed

    Hernández-Martín, Angela; García-Martínez, Francisco Javier; Duat, Anna; López-Martín, Inmaculada; Noguera-Morel, Lucero; Torrelo, Antonio

    2015-01-01

    Nevus anemicus (NA) is a cutaneous anomaly characterized by pale, well-defined patches with limited vascularization after rubbing. They are largely known to be associated with neurofibromatosis 1 (NF1) and have received little attention in the literature until recently. We sought to characterize the prevalence and clinical features of patients with NA and NF1. We conducted an observational prospective study of 99 children with NF1 at the Hospital Niño Jesús, Madrid, Spain, from January 1, 2012, through July 31, 2013, and reviewed three other series of patients with NF1 and NA recently reported. The prevalence of NA in children with NF1 ranged from 8.8% to 51%, being much more prevalent at younger ages. Prospective studies yielded a higher prevalence than retrospective studies. NA was located most commonly on the trunk, particularly on the anterior chest wall, and was often multiple. Patients with segmental NF1 or isolated café au lait spots rarely had NA, and NA was absent in other genodermatoses. The collection of data was not homogeneous in all studies. NA has a high prevalence in individuals with NF1 patients but seems to be absent in connection with other genodermatoses, therefore its presence can assist in the diagnosis of suspected cases of NF1. The subtle clinical appearance of NA makes its detection difficult, and physicians involved in the care of children with NF1 must be aware of its possible presence and significance. PMID:25690591

  7. Blue Nevus-Like Metastasis of a Cutaneous Melanoma Identified by Fluorescence In Situ Hybridization.

    PubMed

    Campa, Molly; Patel, Mahir; Aubert, Pamela; Hosler, Gregory; Witheiler, Daniel

    2016-09-01

    A blue nevus-like melanoma is a rare melanoma variant arising from or histologically similar to a blue nevus. It can be challenging to distinguish a cellular blue nevus from a blue nevus-like melanoma, particularly in cases of blue nevus-like melanoma lacking a transition from a clearly benign component. We present a case of a 78-year-old man who refused treatment for a previously existing melanoma and subsequently developed a gray nodule near the site of the previous melanoma. After fluorescence in situ hybridization revealed copy number gains in RREB1, this was diagnosed as a blue nevus-like metastatic melanoma. Blue nevus-like metastatic melanoma is most commonly seen near the site of the primary cutaneous melanoma. This entity should be considered in a patient with a history of melanoma and a new blue nevus-like lesion. PMID:27097332

  8. Epileptic syndromes: From clinic to genetic

    PubMed Central

    Tafakhori, Abbas; Aghamollaii, Vajiheh; Faghihi-Kashani, Sara; Sarraf, Payam; Habibi, Laleh

    2015-01-01

    Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management. PMID:25874049

  9. Schmahmann's syndrome - identification of the third cornerstone of clinical ataxiology.

    PubMed

    Manto, Mario; Mariën, Peter

    2015-01-01

    Schmahmann's syndrome represents a novel clinical condition consisting of a constellation of cognitive and affective deficits following cerebellar disease. The complex was first described in 1998 as cerebellar cognitive affective syndrome (CCAS) on the basis of a careful neurological examination, detailed bedside mental state tests, neuropsychological investigations and anatomical neuroimaging of a group of 20 patients with focal cerebellar disorders. The syndrome was characterized by four clusters of symptoms including: (a) impairment of executive functions such as planning, set-shifting, verbal fluency, abstract reasoning and working memory, (b) impaired visuo-spatial cognition, (c) personality changes with blunting of affect or abnormal behaviour, and (d) language deficits including agrammatism, wordfinding disturbances, disruption of language dynamics and dysprosodia. This complex of neurocognitive and behavioural-affective symptoms was ascribed to a functional disruption of the reciprocal pathways that connect the cerebellum with the limbic circuitry and the prefrontal, temporal and parietal association cortices. With the introduction of Schmahmann's syndrome, clinical ataxiology has found its third cornerstone, the two others being the cerebellar motor syndrome (CMS) mainly delineated by the pioneer French and English neurologists of the 19(th) and early 20(th) century, and the vestibulo-cerebellar syndrome (VCS) consisting of ocular instability, deficits of oculomotor movements and ocular misalignment. PMID:26331045

  10. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

    PubMed

    Starr, Lois J; Grange, Dorothy K; Delaney, Jeffrey W; Yetman, Anji T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A; Schaefer, G Bradley; Olney, Ann Haskins

    2015-12-01

    Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality. PMID:26420300

  11. Pervasive refusal syndrome - A clinical challenge.

    PubMed

    Kaku, Sowmyashree Mayur; Kommu, John Vijay Sagar; Seshadri, Shekhar; Girimaji, Satish Chandra; Srinath, Shoba

    2015-10-01

    Pervasive refusal syndrome is described as a condition comprising varying degrees of refusal across several domains; social withdrawal; resistance to treatment and is potentially life threatening with no detectable organic cause. Female predominance, refusal to eat with low weight, body image distortion, depressive features, premorbid personality issues similar to eating disorders have been noted, with 67% cases having complete recovery. In this paper, we describe what is probably the first case reported from India, of a child, who presented with neuropsychiatric symptoms, and treated with electroconvulsive therapy along with medications, but, sadly had a fatal outcome. PMID:26275914

  12. Rapid clinical deterioration in an individual with Down syndrome.

    PubMed

    Jacobs, Julia; Schwartz, Alison; McDougle, Christopher J; Skotko, Brian G

    2016-07-01

    A small percentage of adolescents and young adults with Down syndrome experience a rapid and unexplained deterioration in cognitive, adaptive, and behavioral functioning. Currently, there is no standardized work-up available to evaluate these patients or treat them. Their decline typically involves intellectual deterioration, a loss of skills of daily living, and prominent behavioral changes. Certain cases follow significant life events such as completion of secondary school with friends who proceed on to college or employment beyond the individual with DS. Others develop this condition seemingly unprovoked. Increased attention in the medical community to clinical deterioration in adolescents and young adults with Down syndrome could provide a framework for improved diagnosis, evaluation, and treatment. This report presents a young adult male with Down syndrome who experienced severe and unexplained clinical deterioration, highlighting specific challenges in the systematic evaluation and treatment of these patients. © 2016 Wiley Periodicals, Inc. PMID:27149638

  13. Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation.

    PubMed

    Hussain, Jonathan; Schlachterman, Alexander; Kamel, Amir; Gupte, Anand

    2016-01-01

    We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of significant nausea, vomiting, and diarrhea, which had been present intermittently over the past year. On examination, she was found to have a soft, nontender, and mildly distended abdomen without splenomegaly or masses. She had a normal blood pressure and was tachycardic (130 bpm). Her initial complete blood count and basic metabolic panel, excluding glucose, were within normal limits. She was found to have an elevated peripherally drawn venous ammonia (171 mmol/L) and near hypoglycemia (blood glucose 61 mg/dL), which were drawn given her history of HI/HA. She was continued on home carglumic acid and diazoxide, glucose was supplemented intravenously, and she was started on levetiracetam for seizure prophylaxis. An upper endoscopy (esophagogastroduodenoscopy [EGD]) was performed and was unremarkable, and biopsies taken were within normal limits. Following the EGD, she underwent a gastric emptying study that showed delayed emptying (216 minutes), consistent with a new diagnosis of gastroparesis, the likely etiology of her initial abdominal pain on presentation. This was subsequently treated with azithromycin oral solution. We present this case to raise awareness of this rarely encountered syndrome and to provide the basic principles of treatment. PMID:26962538

  14. Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation

    PubMed Central

    Hussain, Jonathan; Schlachterman, Alexander; Kamel, Amir; Gupte, Anand

    2016-01-01

    We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with diffuse abdominal pain, hypoglycemia, confusion, and sweating. She reported a history of significant nausea, vomiting, and diarrhea, which had been present intermittently over the past year. On examination, she was found to have a soft, nontender, and mildly distended abdomen without splenomegaly or masses. She had a normal blood pressure and was tachycardic (130 bpm). Her initial complete blood count and basic metabolic panel, excluding glucose, were within normal limits. She was found to have an elevated peripherally drawn venous ammonia (171 mmol/L) and near hypoglycemia (blood glucose 61 mg/dL), which were drawn given her history of HI/HA. She was continued on home carglumic acid and diazoxide, glucose was supplemented intravenously, and she was started on levetiracetam for seizure prophylaxis. An upper endoscopy (esophagogastroduodenoscopy [EGD]) was performed and was unremarkable, and biopsies taken were within normal limits. Following the EGD, she underwent a gastric emptying study that showed delayed emptying (216 minutes), consistent with a new diagnosis of gastroparesis, the likely etiology of her initial abdominal pain on presentation. This was subsequently treated with azithromycin oral solution. We present this case to raise awareness of this rarely encountered syndrome and to provide the basic principles of treatment. PMID:26962538

  15. Delineation of a clinical syndrome caused by mosaic trisomy 15

    SciTech Connect

    Buehler, E.M.; Bienz, G.; Straumann, E.; Bosceh, N.

    1996-03-15

    We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients. 10 refs., 4 figs., 1 tab.

  16. Epilepsy in Down Syndrome: Clinical Aspects and Possible Mechanisms.

    ERIC Educational Resources Information Center

    Stafstrom, Carl E.

    1993-01-01

    This review examines clinical aspects of seizures among individuals with Down's syndrome and explores possible mechanisms by which the trisomy 21 brain may generate seizures. Evidence suggests an interplay between pathologically hyperexcitable membrane properties, altered neuronal structure, and abnormal inhibitory neurotransmission. (Author/JDD)

  17. A clinical study of a family with Cockayne's syndrome

    PubMed Central

    Proops, Rosalyn; Taylor, A M R; Insley, J

    1981-01-01

    Two sibs with Cockayne's syndrome are described. The recognised cellular sensitivity to ultraviolet light is confirmed. The clinical features in the two children are described and comparisons are made with some forms of xeroderma pigmentosum, a condition in which there is progressive neurological degeneration and cellular sensitivity to ultraviolet irradiation. Images PMID:7277423

  18. Irritable Bowel Syndrome: A Clinical Review.

    PubMed

    Cashman, Michael D; Martin, Daniel K; Dhillon, Sonu; Puli, Srinivas R

    2016-01-01

    Symptoms of irritable bowel syndrome (IBS) are common in population studies including chronic abdominal pain associated with altered bowel habits. Patients often have associated gastrointestinal and somatic symptoms suggesting a possible common contributing mechanism, but the heterogeneous symptom patterns of individual patients make generalizations difficult. The pathophysiology of IBS is incompletely understood but includes disturbances of the brain-gut axis. Central mechanisms are: the psychosocial history and environment, dysfunctional brain processing of peripheral signals attributed to the intestine including the enteric nervous system, the microbiome and the innate and adaptive immune system. As a result there is visceral hypersensitivity and disturbed intestinal secretory and motor activity. Some mechanisms of visceral pain hypersensitivity may overlap with other pain syndromes including fibromyalgia (FMS). Central Sensitization (CS) would offer a way to conceptualize an integration of life experience and psychologic response into a biopsychosocial framework of pathophysiology, diagnosis and treatment of IBS. Corticotropin-releasing factor, a principle regulator in the stress and pain response may contribute to a neuroendocrine mechanism for the brain-gut interaction. The positive diagnostic approach to IBS symptoms to avoid excess testing and enhance the patient-provider therapeutic relationship requires the recognition of the "cluster" of IBS symptoms while identifying "alarm" symptoms requiring specific attention. The severity of the symptoms and other individual psychosocial factors characterize patients who seek medical care. The presence of significant psychosocial comorbidities adds to the complexity of management which often requires a multidisciplinary approach. Several treatment options exist but no single method is effective for all the symptoms of IBS. The therapeutic benefit of the well-executed physician-patient relationship is considered

  19. Clinical and molecular genetic features of ARC syndrome.

    PubMed

    Gissen, Paul; Tee, Louise; Johnson, Colin A; Genin, Emmanuelle; Caliebe, Almuth; Chitayat, David; Clericuzio, Carol; Denecke, Jonas; Di Rocco, Maja; Fischler, Björn; FitzPatrick, David; García-Cazorla, Angeles; Guyot, Delphine; Jacquemont, Sebastien; Koletzko, Sibylle; Leheup, Bruno; Mandel, Hanna; Sanseverino, Maria Teresa Vieira; Houwen, Roderick H J; McKiernan, Patrick J; Kelly, Deirdre A; Maher, Eamonn R

    2006-10-01

    Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with germline VPS33B mutations. VPS33B is involved in regulation of vesicular membrane fusion by interacting with SNARE proteins, and evidence of abnormal polarised membrane protein trafficking has been reported in ARC patients. We characterised clinical and molecular features of ARC syndrome in order to identify potential genotype-phenotype correlations. The clinical phenotype of 62 ARC syndrome patients was analysed. In addition to classical features described previously, all patients had severe failure to thrive, which was not adequately explained by the degree of liver disease and 10% had structural cardiac defects. Almost half of the patients who underwent diagnostic organ biopsy (7/16) developed life-threatening haemorrhage. We found that most patients (9/11) who suffered severe haemorrhage (7 post biopsy and 4 spontaneous) had normal platelet count and morphology. Germline VPS33B mutations were detected in 28/35 families (48/62 individuals) with ARC syndrome. Several mutations were restricted to specific ethnic groups. Thus p.Arg438X mutation was common in the UK Pakistani families and haplotyping was consistent with a founder mutation with the most recent common ancestor 900-1,000 years ago. Heterozygosity was found in the VPS33B locus in some cases of ARC providing the first evidence of a possible second ARC syndrome gene. In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome. PMID:16896922

  20. Spinal Cord Anatomy and Clinical Syndromes.

    PubMed

    Diaz, Eric; Morales, Humberto

    2016-10-01

    We review the anatomy of the spinal cord, providing correlation with key functional and clinically relevant neural pathways, as well as magnetic resonance imaging. Peripherally, the main descending (corticospinal tract) and ascending (gracilis or cuneatus fasciculi and spinothalamic tracts) pathways compose the white matter. Centrally, the gray matter can be divided into multiple laminae. Laminae 1-5 carry sensitive neuron information in the posterior horn, and lamina 9 carries most lower motor neuron information in the anterior horn. Damage to the unilateral corticospinal tract (upper motor neuron information) or gracillis-cuneatus fasciculi (touch and vibration) correlates with ipsilateral clinical findings, whereas damage to unilateral spinothalamic tract (pain-temperature) correlates with contralateral clinical findings. Damage to commissural fibers correlates with a suspended bilateral "girdle" sensory level. Autonomic dysfunction is expected when there is bilateral cord involvement. PMID:27616310

  1. [Verrucous epidermal nevus of the face].

    PubMed

    Larroque, G; Cantaloube, D; Ndiaye, B; Jouen, F; Combemale, P

    1991-01-01

    The authors report a case of extensive verrucous epidermal naevus of the face in a 15 year old Senegalese boy. This is the second reported case in Western Africa following the case presented to the French Language African Medical Society in 1984 (B. Ndiaye). The skin lesion in the form of a naevus of variable dimensions is an essential manifestation of the epidermal naevus syndrome described by Solomon, Fretzin and Dewald in 1968. This syndrome consists of a variable but inconstant association of dysembryoplastic abnormalities affecting the central nervous system (epilepsy, mental retardation, hydrocephalus, localized central deficits), the eye (fibrous conjunctival tumours, corneal opacities, colobomas) and the bones (spine, clavicle, pelvis, limb bones). The bones may be affected by malformations or hypoplasia. The epidermal naevus generally has a linear verrucous appearance, but it is not exceptional to find Jadassohn's sebaceous naevus or even localized erythroderma ichthyosiformis. Mucosal lesions, especially oral, well described in 1960 by Brown and Gorlin, correspond to a particular localization of epidermal naevus and must be differentiated histologically from white sponge naevus, which has a fairly similar clinical appearance. This non-hereditary disease must be systematically investigated looking for visceral abnormalities which are very common. Lastly, in terms of therapy, surgery may be justified when the facial lesions are unsightly, extensive or disabling. Various techniques may be applied depending on the extent and the site of these naevi. PMID:1718208

  2. Lowe syndrome: clinical and neuropathological studies of an adult case.

    PubMed

    Giannakopoulos, P; Bouras, C; Vallet, P; Constantinidis, J

    1990-12-01

    A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis. There was also severe epileptic activity (Lennox-Gastaut syndrome). The neuropathological examination revealed a marked cerebellar atrophy and central chromatolysis in the cerebral cortex. These observations do not confirm the hypothesis of dysmyelination as formulated in previous studies. The reported case rather suggests the existence of a dynamic process starting as a still-undefined metabolic abnormality that, in turn, causes various and inconsistent lesions at the microscopic level. PMID:2077136

  3. Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates

    PubMed Central

    Mercer, Ben N.; Begg, Gordon A.; Page, Stephen P.; Bennett, Christopher P.; Tayebjee, Muzahir H.; Mahida, Saagar

    2016-01-01

    The early repolarization (ER) pattern on the 12-lead electrocardiogram is characterized by J point elevation in the inferior and/or lateral leads. The ER pattern is associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Based on studies in animal models and genetic studies, it has been proposed that J point elevation in ER is a manifestation of augmented dispersion of repolarization which creates a substrate for ventricular arrhythmia. A competing theory regarding early repolarization syndrome (ERS) proposes that the syndrome arises as a consequence of abnormal depolarization. In recent years, multiple clinical studies have described the characteristics of ER patients with VF in more detail. The majority of these studies have provided evidence to support basic science observations. However, not all clinical observations correlate with basic science findings. This review will provide an overview of basic science and genetic research in ER and correlate basic science evidence with the clinical phenotype. PMID:27445855

  4. Hair Follicle Nevus With Features of Comedo Nevus: An Expanding Spectrum.

    PubMed

    Nagarajan, Priyadharsini; Bartholomew, Timothy S; Allen, Carl M; Peters, Sara B

    2016-06-01

    Hair follicle nevus (HFN) is a rare hamartomatous lesion of the folliculosebaceous unit, with or without admixed fibroadipose or muscular tissue. It typically has a congenital presentation in the preauricular area of infants and is frequently confused with an accessory tragus. Acquired tumors with similar histopathologic features have been described infrequently during adolescence and adult life. We report yet another unique presentation of this unusual lesion in a 4-year-old girl who had a long-standing tumor of the nasal columella that started growing rapidly after trauma. Histopathologic examination revealed increased numbers of hair follicles, some of which were associated with diminutive sebaceous glands, with no associated central cystic structure. In addition, the infundibula of the follicles were dilated and filled with keratinous debris. Although these hamartomas are common in the head and neck region, to our knowledge, this is the first report of a HFN at this anatomic location. In addition, this tumor has an overall architecture of a HFN but is accompanied by features of a comedo nevus. We also present a review of the literature and summarize the current diagnostic criteria for HFN. PMID:26844616

  5. Cardiorenal Syndrome: An Unsolved Clinical Problem

    PubMed Central

    Martínez-Santos, Paula; Vilacosta, Isidre

    2011-01-01

    The clinical relevance of the bidirectional cross-talk between heart and kidney is increasingly recognized. However, the optimal approach to the management of kidney dysfunction in heart failure remains unclear. The purpose of this article is to outline the most plausible pathophysiologic theories that attempt to explain the renal impairment in acute and chronic heart failure, and to review the current treatment strategies for these situations. PMID:21660257

  6. Ring 17 syndrome: first clinical report without intellectual disability.

    PubMed

    de Palma, Luca; De Carlo, Debora; Lenzini, Elisabetta; Boniver, Clementina; Tarantino, Vincenza; Bacci, Barbara; Vecchi, Marilena

    2015-03-01

    Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-convulsive status epilepticus with mainly autonomic features. Cytogenetic analysis revealed an abnormal karyotype characterised by the presence of de novo ring chromosome 17 in 19% of metaphases. The array CGH (100 KB) did not show any genetic deletion. The clinical and epilepsy phenotype was, to a certain degree, similar to that of ring 20 syndrome. PMID:25635406

  7. Ancient melanocytic nevus: a simulator of malignant melanoma.

    PubMed

    Kerl, Helmut; Wolf, Ingrid H; Kerl, Katrin; Cerroni, Lorenzo; Kutzner, Heinz; Argenyi, Zsolt B

    2011-04-01

    Ancient melanocytic nevus (AN) is an unusual but distinctive melanocytic neoplasm within the spectrum of simulators of malignant melanoma. This report describes 13 patients with AN where a long follow-up information was available. Histopathology is characterized by 2 populations of melanocytes, namely, one with large pleomorphic cells and the other with small melanocytes. A few mitotic figures may be present exceptionally. MIB-1 (Ki67) proliferation marker reveals an overall low nuclear labeling index. Additional important findings are stromal degenerative changes. AN must be especially differentiated from dermal melanoma arising in a nevus. PMID:21399448

  8. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

    PubMed Central

    Greenhaw, G A; Hebert, A; Duke-Woodside, M E; Butler, I J; Hecht, J T; Cleaver, J E; Thomas, G H; Horton, W A

    1992-01-01

    Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair. Images Figure 1 Figure 1 Figure 2 Figure 3 PMID:1372469

  9. Steroid-responsive and nephrotic syndrome and allergy: clinical studies.

    PubMed Central

    Meadow, S R; Sarsfield, J K

    1981-01-01

    Eighty-four children with steroid-responsive nephrotic syndrome who had been shown to have, or were believed to have, minimal change histology were investigated to study the relationship between steroid-responsive nephrotic syndrome and allergy. They were found to have a greater incidence of the standard atopic disorders--asthma, eczema, recurrent urticaria, and hay fever. Their 1st-degree relatives had an increased incidence of these atopic disorders too. A nasal discharge was a frequent precursor or an accompaniment of nephrotic syndrome, but an overt atrophic disorder at the same time was rare. Such disorders, related to relapse, occurred in only 5 children; in none was it a consistent or recurrent happening at the time of each relapse. No example of pollen hypersensitivity nephrotic syndrome was found, and no particular allergen could be identified with certainty as responsible for a child's nephrotic syndrome. No association was found between the time of relapse and the season of the year, or the season in which the child was born. Children with nephrotic syndrome had a greater incidence of positive skin tests to common antigens, the comparative frequency of positive reactions to different antigens being similar to that found in children with asthma, although the total frequency was about half that of children with asthma. Despite the increased incidence of clinical features of atopy, measures to reduce the frequency of relapse of nephrotic syndrome by allergen avoidance, the use of sodium cromoglycate, and the use of a new oral antiallergic drug were unsuccessful. PMID:6791592

  10. Steroid-responsive and nephrotic syndrome and allergy: clinical studies.

    PubMed

    Meadow, S R; Sarsfield, J K

    1981-07-01

    Eighty-four children with steroid-responsive nephrotic syndrome who had been shown to have, or were believed to have, minimal change histology were investigated to study the relationship between steroid-responsive nephrotic syndrome and allergy. They were found to have a greater incidence of the standard atopic disorders--asthma, eczema, recurrent urticaria, and hay fever. Their 1st-degree relatives had an increased incidence of these atopic disorders too. A nasal discharge was a frequent precursor or an accompaniment of nephrotic syndrome, but an overt atrophic disorder at the same time was rare. Such disorders, related to relapse, occurred in only 5 children; in none was it a consistent or recurrent happening at the time of each relapse. No example of pollen hypersensitivity nephrotic syndrome was found, and no particular allergen could be identified with certainty as responsible for a child's nephrotic syndrome. No association was found between the time of relapse and the season of the year, or the season in which the child was born. Children with nephrotic syndrome had a greater incidence of positive skin tests to common antigens, the comparative frequency of positive reactions to different antigens being similar to that found in children with asthma, although the total frequency was about half that of children with asthma. Despite the increased incidence of clinical features of atopy, measures to reduce the frequency of relapse of nephrotic syndrome by allergen avoidance, the use of sodium cromoglycate, and the use of a new oral antiallergic drug were unsuccessful. PMID:6791592

  11. Clinical and molecular features of Joubert syndrome and related disorders

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

    Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

  12. Clinical Characteristics of Childhood Guillain-Barré Syndrome

    PubMed Central

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim

    2008-01-01

    Objectives To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. Methods All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Results Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Conclusions Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery. PMID:22359705

  13. Expanding the mutation and clinical spectrum of Roberts syndrome.

    PubMed

    Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

    2016-07-01

    Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. PMID:26710928

  14. Food protein-induced enterocolitis syndrome: clinical perspectives.

    PubMed

    Sicherer, S H

    2000-01-01

    Food Protein-Induced Enterocolitis Syndrome (FPIES) is a symptom complex of severe vomiting and diarrhea caused by non-IgE-mediated allergy to cow's milk and/or soy in infants. Symptoms typically begin in the first month of life in association with failure to thrive and may progress to acidemia and methemoglobinemia. Symptoms resolve after the causal protein (usually sensitivity to both cow's milk and soy) is removed from the diet. Symptoms recur approximately 2 hours after reintroduction of the protein along with a coincident elevation of the peripheral blood polymorphonuclear leukocyte count. The sensitivity is usually outgrown by 3 years of age. The purpose of this review is to delineate the characteristic clinical features, diagnosis and management of FPIES. Furthermore, infantile FPIES will be discussed in relation to clinical syndromes that share features with it ("atypical FPIES") and other food-allergic disorders affecting the gastrointestinal tract. PMID:10634298

  15. Multiple keratocystic odontogenic tumors in nevoid basal cell carcinoma syndrome

    PubMed Central

    Pereira, Treville; Tamgadge, Avinash; Sapdhare, Swati; Pujar, Ashwini

    2015-01-01

    Keratocystic odontogenic tumor (KCOT) is of particular interest because its recurrence rate is high and its behavior is aggressive. Nevoid basal cell carcinoma syndrome (NBCCS), which is also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and with a predisposition to neoplasms. These multiple KCOTs have warranted an aggressive treatment at the earliest because of the damage and possible complications. Recurrence of these lesions is a characteristic feature that has to be considered while explaining the prognosis to the patient. Here, we report a case of a 14-year-old boy with clinical features of basal cell nevus syndrome and multiple KCOTs. In addition to the other common features, congenitally missing third molars in all the four quadrants is a feature which has not been previously reported in association with NBCCS in Indian patients. PMID:26981489

  16. Porokeratotic eccrine ostial and dermal duct nevus - revisited.

    PubMed

    Bhunia, Deblina; Ghosh, Shouvik; Rudra, Olympia; Biswas, Surajit Kumar

    2014-09-01

    We hereby report a rare case of a 14-year-old girl presenting with asymptomatic pitted papules over the flexor aspect of her right 4th and 5th digits. This was histopathologically proven to be porokeratotic eccrine ostial and dermal duct nevus (PEODDN). PMID:25244169

  17. Syndrome Co-Occurrence and Treatment Outcomes in Youth Mental Health Clinics

    ERIC Educational Resources Information Center

    Doss, Amanda Jensen; Weisz, John R.

    2006-01-01

    Despite widespread speculation that syndrome co-occurrence undermines treatment outcomes, this hypothesis has not been fully examined within clinical care settings. To address this gap, the authors investigated the relation between syndrome co-occurrence and outcome among 325 clinically referred youths. For every syndrome, higher initial severity…

  18. [The Sotos syndrome. Clinical and neuropsychiatric considerations in 1 case].

    PubMed

    Trizio, M; Intino, M T; Lanzi, C; Krajewska, G; Perniola, T

    1983-01-01

    A case of Sotos' syndrome or cerebral gigantism is described. The main clinical features of this syndrome are macrocrania, accelerated skeleton maturation and somatic development, cranio-facial dysmorfism, psychomotor retardation in 80% of the cases. Less frequently other skeleton abnormalities associated with neurological and/or endocrinological disorders are reported. In our patient the typical features of the syndrome are accompanied by several neurological signs (mental retardtion, strabism, hypothonia, motor impairment, seizures, CT scan abnormalities) and ophtalmological changes as optic disk pallor. The above mentioned range of symptoms should be considered as a direct consequence of the primary defect which characterizes the Sotos' syndrome. In our case the cerebral nervous system seems to be more specifically involved. Besides, important behavioural difficulties have emerged with regard to the double relation mother-daughter and in the familiar environment as well. For this reason we emphasize the necessity of evaluating and clearing up all problems which often arise in connection with various pathological conditions in childhood. This should be done in order to grant the families an appropriate support. PMID:6680796

  19. In vivo photoacoustic microscopy of human cutaneous microvasculature and a nevus

    NASA Astrophysics Data System (ADS)

    Favazza, Christopher P.; Jassim, Omar; Cornelius, Lynn A.; Wang, Lihong V.

    2011-01-01

    In several human volunteers, photoacoustic microscopy (PAM) has been utilized for noninvasive cutaneous imaging of the skin microvasculature and a melanocytic nevus. Microvascular networks in both acral and nonacral skin were imaged, and multiple features within the skin have been identified, including the stratum corneum, epidermal-dermal junction, and subpapillary vascular plexus. Several vascular and structural differences between acral and nonacral skin were also observed in the photoacoustic images. In addition, a nevus was photoacoustically imaged, excised, and histologically analyzed. The photoacoustic images allowed for in vivo measurement of tumor thickness, depth, and microvasculature-values confirmed by histologic examination. The presented images demonstrate the potential of PAM to aid in the study and evaluation of cutaneous microcirculation and analysis of pigmented lesions. Through its ability to three-dimensionally image the structure and function of the microvasculature and pigmented lesions, PAM can have a clinical impact in diagnosis and assessment of systemic diseases that affect the microvasculature such as diabetes and cardiovascular disease, cutaneous malignancies such as melanoma, and potentially other skin disorders.

  20. Automatic differentiation of melanoma and clark nevus skin lesions

    NASA Astrophysics Data System (ADS)

    LeAnder, R. W.; Kasture, A.; Pandey, A.; Umbaugh, S. E.

    2007-03-01

    Skin cancer is the most common form of cancer in the United States. Although melanoma accounts for just 11% of all types of skin cancer, it is responsible for most of the deaths, claiming more than 7910 lives annually. Melanoma is visually difficult for clinicians to differentiate from Clark nevus lesions which are benign. The application of pattern recognition techniques to these lesions may be useful as an educational tool for teaching physicians to differentiate lesions, as well as for contributing information about the essential optical characteristics that identify them. Purpose: This study sought to find the most effective features to extract from melanoma, melanoma in situ and Clark nevus lesions, and to find the most effective pattern-classification criteria and algorithms for differentiating those lesions, using the Computer Vision and Image Processing Tools (CVIPtools) software package. Methods: Due to changes in ambient lighting during the photographic process, color differences between images can occur. These differences were minimized by capturing dermoscopic images instead of photographic images. Differences in skin color between patients were minimized via image color normalization, by converting original color images to relative-color images. Relative-color images also helped minimize changes in color that occur due to changes in the photographic and digitization processes. Tumors in the relative-color images were segmented and morphologically filtered. Filtered, relative-color, tumor features were then extracted and various pattern-classification schemes were applied. Results: Experimentation resulted in four useful pattern classification methods, the best of which was an overall classification rate of 100% for melanoma and melanoma in situ (grouped) and 60% for Clark nevus. Conclusion: Melanoma and melanoma in situ have feature parameters and feature values that are similar enough to be considered one class of tumor that significantly differs from

  1. Predicting outcome in clinically isolated syndrome using machine learning

    PubMed Central

    Wottschel, V.; Alexander, D.C.; Kwok, P.P.; Chard, D.T.; Stromillo, M.L.; De Stefano, N.; Thompson, A.J.; Miller, D.H.; Ciccarelli, O.

    2014-01-01

    We aim to determine if machine learning techniques, such as support vector machines (SVMs), can predict the occurrence of a second clinical attack, which leads to the diagnosis of clinically-definite Multiple Sclerosis (CDMS) in patients with a clinically isolated syndrome (CIS), on the basis of single patient's lesion features and clinical/demographic characteristics. Seventy-four patients at onset of CIS were scanned and clinically reviewed after one and three years. CDMS was used as the gold standard against which SVM classification accuracy was tested. Radiological features related to lesional characteristics on conventional MRI were defined a priori and used in combination with clinical/demographic features in an SVM. Forward recursive feature elimination with 100 bootstraps and a leave-one-out cross-validation was used to find the most predictive feature combinations. 30 % and 44 % of patients developed CDMS within one and three years, respectively. The SVMs correctly predicted the presence (or the absence) of CDMS in 71.4 % of patients (sensitivity/specificity: 77 %/66 %) at 1 year, and in 68 % (60 %/76 %) at 3 years on average over all bootstraps. Combinations of features consistently gave a higher accuracy in predicting outcome than any single feature. Machine-learning-based classifications can be used to provide an “individualised” prediction of conversion to MS from subjects' baseline scans and clinical characteristics, with potential to be incorporated into routine clinical practice. PMID:25610791

  2. Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin.

    PubMed

    Small, Alison M; Cordoro, Kelly M

    2016-05-01

    We present two cases of Netherton syndrome mimicking pustular psoriasis and discuss potential pathomechanisms of clinical and histologic similarities between Netherton syndrome and pustular psoriasis and implications for management. PMID:27086664

  3. Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

    PubMed

    Cohen, D M; Green, J G; Miller, J; Gorlin, R J; Reed, J A

    1987-10-01

    Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy- or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423-434, 1980]. PMID:3322002

  4. Revisiting ovarian hyper stimulation syndrome: Towards OHSS free clinic.

    PubMed

    Banker, Manish; Garcia-Velasco, Juan A

    2015-01-01

    A rapid development and application of assisted reproductive technologies (ARTs) and ovulation-induction drugs may lead to ovarian hyper stimulation syndrome (OHSS). Young age, low body mass index (BMI), polycystic ovarian syndrome (PCOS), previous OHSS, high follicle count, and elevated serum estradiol (E2) are the certain factors that predispose women to OHSS. Many strategies have been used to reduce or avoid OHSS. Use of human chorionic gonadotropin (hCG) increases ovarian vascular permeability and is responsible for activating the vascular endothelial growth factors (VEGF) pathway and thus the entire cascade, leading to symptomatic OHSS. Gonadotropin-releasing hormone (GnRH) agonists are used as a replacement for hCG for final oocyte maturation in antagonist cycles. Reducing or eliminating the use of hCG and use of GnRH agonist triggered GnRH antagonist cycles and cryopreservation of oocytes or embryos is the most promising approach in making OHSS free clinic a reality. PMID:25838743

  5. A clinical variant of familial Hermansky-Pudlak syndrome.

    PubMed

    Iannello, Silvia; Fabbri, Giuseppe; Bosco, Paolo; Cavaleri, Antonina; Cantarella, Santi; Camuto, Massimo; Milazzo, Paolina; Romeo, Francesco; Belfiore, Francesco

    2003-01-27

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in Puerto Rico, where the most important studies have been performed, but is a very rare disease in Europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. The aim of this article is to discuss, on the basis of a review of relevant literature, a new familial HPS clinical variant observed in 2 young sisters (aged 16 and 23 years old, respectively), characterized by the typical symptoms of this syndrome. Our patients also suffered from diffuse interstitial pulmonary disease and an unexpectedly increased platelet aggregation and were prone to bacterial infections. Interestingly, we observed urinary tract abnormality in the younger HPS sister and a porencephalic cyst in the older HPS sister; both of these developmental defects have been reported in the Cross syndrome (or oculocerebral hypopigmentation syndrome). It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder. PMID:12827064

  6. Nevus count associations with pigmentary phenotype, histopathological melanoma characteristics and survival from melanoma.

    PubMed

    Taylor, Nicholas J; Thomas, Nancy E; Anton-Culver, Hoda; Armstrong, Bruce K; Begg, Colin B; Busam, Klaus J; Cust, Anne E; Dwyer, Terence; From, Lynn; Gallagher, Richard P; Gruber, Stephen B; Nishri, Diane E; Orlow, Irene; Rosso, Stefano; Venn, Alison J; Zanetti, Roberto; Berwick, Marianne; Kanetsky, Peter A

    2016-09-15

    Although nevus count is an established risk factor for melanoma, relationships between nevus number and patient and tumor characteristics have not been well studied and the influence of nevus count on melanoma-specific survival is equivocal. Using data from the Genes, Environment and Melanoma (GEM) study, a large population-based study of primary cutaneous melanoma, we evaluated associations between number of nevi and patient features, including sun-sensitivity summarized in a phenotypic index, and tumor characteristics. We also assessed the association of nevus count with melanoma-specific survival. Higher nevus counts were independently and positively associated with male gender and younger age at diagnosis, and they were inversely associated with lentigo maligna histology. We observed a borderline significant trend of poorer melanoma-specific survival with increasing quartile of nevus count, but little or no association between number of nevi and pigmentary phenotypic characteristics or prognostic tumor features. PMID:27101944

  7. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    PubMed Central

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

  8. Rett Syndrome: Crossing the Threshold to Clinical Translation

    PubMed Central

    Katz, David M.; Bird, Adrian; Coenraads, Monica; Gray, Steven J.; Menon, Debashish U.; Philpot, Benjamin D.; Tarquinio, Daniel C.

    2016-01-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  9. Rett Syndrome: Crossing the Threshold to Clinical Translation.

    PubMed

    Katz, David M; Bird, Adrian; Coenraads, Monica; Gray, Steven J; Menon, Debashish U; Philpot, Benjamin D; Tarquinio, Daniel C

    2016-02-01

    Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. PMID:26830113

  10. Clinical Experience of the Klippel-Trenaunay Syndrome

    PubMed Central

    Sung, Hyung Min; Lee, Seok Jong; Lee, Jong Min; Huh, Seung; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Cho, Byung Chae

    2015-01-01

    Background The Klippel-Trenaunay syndrome (KTS) is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center. Methods We conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered. Results The sex distribution was balanced, with 9 (47%) males and 10 (53%) females. The mean follow-up period was 4.1 years (range, 7 months-9 years). Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients. Conclusions KTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management. PMID:26430625

  11. Radiographic findings in patients with clinical Tietze syndrome.

    PubMed

    Jurik, A G; Justesen, T; Graudal, H

    1987-01-01

    Thirteen patients with similar painful tender swelling in the region of the sternocostal joint (SCJ) are reported. X-ray tomography revealed changes which might explain the swelling in 11 patients. Three patients had anatomical variants of the sternum. One of these and a further two patients had marginal osteophytes at the affected SCJ, as signs of osteoarthrosis. Six patients with psoriasis, pustulosis palmoplantaris, or psoriasis in the family had past or present arthritis of the involved SCJ or the manubriosternal joint. Tomography was found to be a useful confirmatory examination in patients with clinical Tietze syndrome. PMID:3423820

  12. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics.

    PubMed

    Stratakis, Constantine A

    2016-06-01

    Endogenous Cushing syndrome (CS) in pediatrics is rare; it may be caused by tumors that produce corticotropin in the pituitary gland or elsewhere, tumors that produce corticotropin-releasing hormone anywhere, and adrenocortical masses that produce cortisol. Adrenocortical cancer is a rare cause of CS in children but should be excluded first. CS in children is often caused by germline or somatic mutations with implications for patient prognosis and for their families. CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup. PMID:27241967

  13. Clinical guides for atypical hemolytic uremic syndrome in Japan.

    PubMed

    Kato, Hideki; Nangaku, Masaomi; Hataya, Hiroshi; Sawai, Toshihiro; Ashida, Akira; Fujimaru, Rika; Hidaka, Yoshihiko; Kaname, Shinya; Maruyama, Shoichi; Yasuda, Takashi; Yoshida, Yoko; Ito, Shuichi; Hattori, Motoshi; Miyakawa, Yoshitaka; Fujimura, Yoshihiro; Okada, Hirokazu; Kagami, Shoji

    2016-08-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In 2013, we developed diagnostic criteria to enable early diagnosis and timely initiation of appropriate treatment for aHUS. Recent clinical and molecular findings have resulted in several proposed classifications and definitions of thrombotic microangiopathy and aHUS. Based on recent advances in this field and the emerging international consensus to exclude secondary TMAs from the definition of aHUS, we have redefined aHUS and proposed diagnostic algorithms, differential diagnosis, and therapeutic strategies for aHUS. PMID:27422619

  14. Clinical guides for atypical hemolytic uremic syndrome in Japan.

    PubMed

    Kato, Hideki; Nangaku, Masaomi; Hataya, Hiroshi; Sawai, Toshihiro; Ashida, Akira; Fujimaru, Rika; Hidaka, Yoshihiko; Kaname, Shinya; Maruyama, Shoichi; Yasuda, Takashi; Yoshida, Yoko; Ito, Shuichi; Hattori, Motoshi; Miyakawa, Yoshitaka; Fujimura, Yoshihiro; Okada, Hirokazu; Kagami, Shoji

    2016-07-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In 2013, we developed diagnostic criteria to enable early diagnosis and timely initiation of appropriate treatment for aHUS. Recent clinical and molecular findings have resulted in several proposed classifications and definitions of thrombotic microangiopathy and aHUS. Based on recent advances in this field and the emerging international consensus to exclude secondary TMAs from the definition of aHUS, we have redefined aHUS and proposed diagnostic algorithms, differential diagnosis, and therapeutic strategies for aHUS. PMID:27460397

  15. Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Nieman, Lynnette K.; Biller, Beverly M. K.; Findling, James W.; Murad, M. Hassan; Newell-Price, John; Savage, Martin O.; Tabarin, Antoine

    2015-01-01

    Objective: The objective is to formulate clinical practice guidelines for treating Cushing's syndrome. Participants: Participants include an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. The European Society for Endocrinology co-sponsored the guideline. Evidence: The Task Force used the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence. The Task Force commissioned three systematic reviews and used the best available evidence from other published systematic reviews and individual studies. Consensus Process: The Task Force achieved consensus through one group meeting, several conference calls, and numerous e-mail communications. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Conclusions: Treatment of Cushing's syndrome is essential to reduce mortality and associated comorbidities. Effective treatment includes the normalization of cortisol levels or action. It also includes the normalization of comorbidities via directly treating the cause of Cushing's syndrome and by adjunctive treatments (eg, antihypertensives). Surgical resection of the causal lesion(s) is generally the first-line approach. The choice of second-line treatments, including medication, bilateral adrenalectomy, and radiation therapy (for corticotrope tumors), must be individualized to each patient. PMID:26222757

  16. Severe congenital thrombocytopaenia – first clinical manifestation of Noonan syndrome

    PubMed Central

    Nunes, Paula; Aguilar, Sara; Prado, Sara Noéme; Palaré, Maria João; Ferrão, Anabela; Morais, Anabela

    2012-01-01

    This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×109/l).The authors registered a persistent low platelet count (9000–129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan’s syndrome. PMID:22605701

  17. Pathophysiology, clinical features and radiological findings of differentiation syndrome/all-trans-retinoic acid syndrome.

    PubMed

    Cardinale, Luciano; Asteggiano, Francesco; Moretti, Federica; Torre, Federico; Ulisciani, Stefano; Fava, Carmen; Rege-Cambrin, Giovanna

    2014-08-28

    In acute promyelocytic leukemia, differentiation therapy based on all-trans-retinoic acid can be complicated by the development of a differentiation syndrome (DS). DS is a life-threatening complication, characterized by respiratory distress, unexplained fever, weight gain, interstitial lung infiltrates, pleural or pericardial effusions, hypotension and acute renal failure. The diagnosis of DS is made on clinical grounds and has proven to be difficult, because none of the symptoms is pathognomonic for the syndrome without any definitive diagnostic criteria. As DS can have subtle signs and symptoms at presentation but progress rapidly, end-stage DS clinical picture resembles the acute respiratory distress syndrome with extremely poor prognosis; so it is of absolute importance to be conscious of these complications and initiate therapy as soon as it was suspected. The radiologic appearance resembles the typical features of cardiogenic pulmonary edema. Diagnosis of DS remains a great skill for radiologists and haematologist but it is of an utmost importance the cooperation in suspect DS, detect the early signs of DS, examine the patients' behaviour and rapidly detect the complications. PMID:25170395

  18. Moyamoya disease and syndromes: from genetics to clinical management

    PubMed Central

    Guey, Stéphanie; Tournier-Lasserve, Elisabeth; Hervé, Dominique; Kossorotoff, Manoelle

    2015-01-01

    Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral hemodynamics measurements. Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. PMID:25733922

  19. Compartment syndrome after total knee arthroplasty: regarding a clinical case☆

    PubMed Central

    Pinheiro, Ana Alexandra da Costa; Marques, Pedro Miguel Dantas Costa; Sá, Pedro Miguel Gomes; Oliveira, Carolina Fernandes; da Silva, Bruno Pombo Ferreira; de Sousa, Cristina Maria Varino

    2015-01-01

    Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury. PMID:26401507

  20. Moyamoya disease and syndromes: from genetics to clinical management.

    PubMed

    Guey, Stéphanie; Tournier-Lasserve, Elisabeth; Hervé, Dominique; Kossorotoff, Manoelle

    2015-01-01

    Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being "idiopathic" according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral hemodynamics measurements. Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. PMID:25733922

  1. Rifaximin in irritable bowel syndrome: rationale, evidence and clinical use.

    PubMed

    Saadi, Mohammed; McCallum, Richard W

    2013-03-01

    Irritable bowel syndrome (IBS) is the most common functional bowel disease that affects up to 15% of the US population. The majority of patients with IBS have significant bloating and gas. Recent evidence is beginning to suggest that patients with IBS may have an alteration in the gastrointestinal flora. Specifically, findings suggest that patients with IBS have excessive bacteria in the small bowel, referred to as bacterial overgrowth. Therefore there may be benefits of antibiotic-based therapies for IBS. Rifaximin is a nonabsorbable antibiotic that demonstrates no clinically relevant bacterial resistance. Some studies have demonstrated the efficacy and durable improvement of IBS symptoms after treatment with rifaximin. In this review we explore the current data showing the association of small intestinal bacterial overgrowth (SIBO) and IBS as well as review the available data on the clinical use of rifaximin in the treatment of SIBO in patients with IBS. PMID:23556126

  2. Rifaximin in irritable bowel syndrome: rationale, evidence and clinical use

    PubMed Central

    Saadi, Mohammed

    2013-01-01

    Irritable bowel syndrome (IBS) is the most common functional bowel disease that affects up to 15% of the US population. The majority of patients with IBS have significant bloating and gas. Recent evidence is beginning to suggest that patients with IBS may have an alteration in the gastrointestinal flora. Specifically, findings suggest that patients with IBS have excessive bacteria in the small bowel, referred to as bacterial overgrowth. Therefore there may be benefits of antibiotic-based therapies for IBS. Rifaximin is a nonabsorbable antibiotic that demonstrates no clinically relevant bacterial resistance. Some studies have demonstrated the efficacy and durable improvement of IBS symptoms after treatment with rifaximin. In this review we explore the current data showing the association of small intestinal bacterial overgrowth (SIBO) and IBS as well as review the available data on the clinical use of rifaximin in the treatment of SIBO in patients with IBS. PMID:23556126

  3. [The Ehlers-Danlos syndrome: hystory of a clinical hendiadys].

    PubMed

    Brazzaventre, Cristina; Celletti, Claudia; Gobattoni, Paolo; Santilli, Valter; Camerota, Filippo

    2013-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and tissue fragility, which results in easy bruising and abnormal scarring. The condition shows a phenotypic variance from milder to serious presentations. Complaints related to activity (hypermobility, dislocations, impaired balance), to pain (general pain, headache, jaw and tooth pain) and to skin (bruises, fragility, impaired wound healing) are frequent. It was first noted by Hippocrates in 400 BC in his writing 'Airs Water and Places' that the nomads Scythians had lax joints and multiple scars. Whereas the additional flexibility can give benefits in term of mobility and agility, adverse effects of tissue laxity and fragility can give rise to clinical consequences. We recognize that it is important that, in those hypermobility patients, who develop potentially debilitating symptoms of chronicfatigue or widespread pain, there should be prompt an appropriate intervention. PMID:25807780

  4. Placebo Effect in Clinical Trial Design for Irritable Bowel Syndrome

    PubMed Central

    Shah, Eric; Pimentel, Mark

    2014-01-01

    Ongoing efforts to improve clinical trial design in irritable bowel syndrome have been hindered by high placebo response rates and ineffective outcome measures. We assessed established strategies to minimize placebo effect as well as the various approaches to placebo effect which can affect trial design. These include genetic markers such as catechol-O-methyltransferase, opioidergic and dopaminergic neurobiologic theory, pre-cebo effect centered on expectancy theory, and side effect unblinding grounded on conditioning theory. We reviewed endpoints used in the study of IBS over the past decade including adequate relief and subjective global relief, emphasizing their weaknesses in fully evaluating the IBS condition, specifically their motility effects based on functional net value and relative benefit-harm based on dropouts due to adverse events. The focus of this review is to highlight ongoing efforts to improve clinical trial design which can lead to better outcomes in a real-world setting. PMID:24840369

  5. APECED syndrome in childhood: clinical spectrum is enlarging.

    PubMed

    Valenzise, Mariella; Alessi, Luca; Bruno, Enrico; Cama, Valeria; Costanzo, Daria; Genovese, Cristina; Mignosa, Cristina; Scuderi, Veronica; DE Luca, Filippo

    2016-06-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified. PMID:25502918

  6. Prevalence and clinical correlates of explosive outbursts in Tourette syndrome.

    PubMed

    Chen, Kevin; Budman, Cathy L; Diego Herrera, Luis; Witkin, Joanna E; Weiss, Nicholas T; Lowe, Thomas L; Freimer, Nelson B; Reus, Victor I; Mathews, Carol A

    2013-02-28

    The aim of this study was to examine the prevalence and clinical correlates of explosive outbursts in two large samples of individuals with Tourette syndrome (TS), including one collected primarily from non-clinical sources. Participants included 218 TS-affected individuals who were part of a genetic study (N=104 from Costa Rica (CR) and N=114 from the US). The relationships between explosive outbursts and comorbid attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), tic severity, and prenatal and perinatal complications were examined using regression analyses. Twenty percent of participants had explosive outbursts, with no significant differences in prevalence between the CR (non-clinical) and the US (primarily clinical) samples. In the overall sample, ADHD, greater tic severity, and lower age of tic onset were strongly associated with explosive outbursts. ADHD, prenatal exposure to tobacco, and male gender were significantly associated with explosive outbursts in the US sample. Lower age of onset and greater severity of tics were significantly associated with explosive outbursts in the CR sample. This study confirms previous studies that suggest that clinically significant explosive outbursts are common in TS and associated with ADHD and tic severity. An additional potential risk factor, prenatal exposure to tobacco, was also identified. PMID:23040794

  7. X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

    PubMed

    Beckers, Albert; Lodish, Maya Beth; Trivellin, Giampaolo; Rostomyan, Liliya; Lee, Misu; Faucz, Fabio R; Yuan, Bo; Choong, Catherine S; Caberg, Jean-Hubert; Verrua, Elisa; Naves, Luciana Ansaneli; Cheetham, Tim D; Young, Jacques; Lysy, Philippe A; Petrossians, Patrick; Cotterill, Andrew; Shah, Nalini Samir; Metzger, Daniel; Castermans, Emilie; Ambrosio, Maria Rosaria; Villa, Chiara; Strebkova, Natalia; Mazerkina, Nadia; Gaillard, Stéphan; Barra, Gustavo Barcelos; Casulari, Luis Augusto; Neggers, Sebastian J; Salvatori, Roberto; Jaffrain-Rea, Marie-Lise; Zacharin, Margaret; Santamaria, Beatriz Lecumberri; Zacharieva, Sabina; Lim, Ee Mun; Mantovani, Giovanna; Zatelli, Maria Chaira; Collins, Michael T; Bonneville, Jean-François; Quezado, Martha; Chittiboina, Prashant; Oldfield, Edward H; Bours, Vincent; Liu, Pengfei; W de Herder, Wouter; Pellegata, Natalia; Lupski, James R; Daly, Adrian F; Stratakis, Constantine A

    2015-06-01

    X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2-3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight standard deviation scores (SDS) of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF1 and usually prolactin, due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection, but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high levels of expression of somatostatin receptor subtype-2 in tumor tissue. Postoperative use of adjuvant pegvisomant resulted in control of IGF1 in all five cases where it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management. PMID:25712922

  8. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

    PubMed

    Halbach, Nicky; Smeets, Eric E; Julu, Peter; Witt-Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-09-01

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc. PMID:27354166

  9. Holt-Oram syndrome: a clinical genetic study.

    PubMed Central

    Newbury-Ecob, R A; Leanage, R; Raeburn, J A; Young, I D

    1996-01-01

    A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial ray was predominantly affected than the right. All affected cases showed evidence of upper limb involvement. Cardiac defects were seen in 95% of familial cases and included both atrial septal defect (ASD, 34%) and ventricular septal defect (VSD, 25%); 39% had only ECG changes. Cardiac involvement ranged from asymptomatic conduction disturbances to multiple structural defects requiring surgery in infancy. Sudden death could be caused by heart block. Inheritance was autosomal dominant with 100% penetrance and no evidence of reduced fitness. Increasing severity occurred in succeeding generations consistent with anticipation. Images PMID:8730285

  10. Overwhelming postsplenectomy infection syndrome in adults - A clinically preventable disease

    PubMed Central

    Okabayashi, Takehiro; Hanazaki, Kazuhiro

    2008-01-01

    Overwhelming postsplenectomy infection (OPSI) syndrome is a rare condition, but is associated with high mortality. However, recognition and clinical management of OPSI is not well established. The prevalence of splenectomy increased recently because it was a clinically effective treatment for hepatitis C virus-associated thrombocytopenia before the introduction of the interferon/ribavirin combination therapy. We reviewed the literature characterizing the clinicopathological features of OPSI and assessed the most effective and feasible administration of the condition. A Medline search was performed using the keywords 'overwhelming', 'postsplenectomy infection', 'postsplenectomy sepsis', 'chronic liver disease', and/or 'splenectomy'. Additional articles were obtained from references within the papers identified by the Medline search. Durations between splenectomy and onset of OPSI ranged from less than 1 wk to more than 20 years. Autopsy showed that many patients with OPSI also had Waterhouse-Friderichsen syndrome. Although the mortality rate from OPSI has been reduced by appropriate vaccination and education, the precise pathogenesis and a suitable therapeutic strategy remain to be elucidated. Protein energy malnutrition (PEM) is commonly observed in cirrhotic patients. Since the immune response in patients with PEM is compromised, a more careful management for OPSI should therefore be applied for cirrhotic patients after splenectomy. In addition, strict long-term follow up of OPSI patients including informed consent will lead to a better prognosis. PMID:18186551

  11. Tourette syndrome: clinical and psychological aspects of 250 cases.

    PubMed

    Comings, D E; Comings, B G

    1985-05-01

    Tourette syndrome is a common hereditary neuropsychiatric disorder consisting of multiple tics and vocal noises. We summarize here clinical aspects of 250 consecutive cases seen over a period of 3 years. The sex ratio was four males to one female, and the mean age of onset was 6.9 years. Only 10% were Jewish, indicating that it is not more prevalent in Ashkenazi Jews. Only 33% had compulsive swearing (coprolalia), indicating that this is not necessary for the diagnosis. The most frequent initial symptoms were rapid eye-blinking, facial grimacing, and throat-clearing. In this series, it was clear that Tourette syndrome is a psychiatric as well as a neurological disorder. Significant discipline problems and/or problems with anger and violence occurred in 61%, and 54% had attention-deficit disorder with hyperactivity. Some degree of exhibitionism was present in 15.9% of males and 6.1% of females. Obsessive-compulsive behavior was seen in 32%. Other than tics and vocal noises, the most common parental complaints were of short temper and everything being a confrontation. There were no significant clinical differences between familial and sporadic cases. Whenever a child presents with a learning disorder, attention-deficit disorder, or significant discipline or emotional problems, the parents should be questioned about the presence of tics or vocal noises in the patient and other family members. PMID:3859204

  12. [Clinical and endocrinological findings of bitches with ovarian cyst syndrome].

    PubMed

    Bostedt, H; Jung, C; Wehrend, A; Boryzcko, Z

    2013-10-01

    Aim of this study was to record the clinical findings in bitches with ovarian cyst syndrome (OCS) and to interpret them in connection with the endocrine status in peripheral blood and in cyst liquid. For our investigation 16 bitches of different breeds with an average age of 9.7 years were used. They have been presented to the clinic due to different gynecological symptoms. The leading symptom was in 87.5 % of the cases a chronic vaginal secretion. In addition to a detailed anamnesis a clinical examination was performed including vaginalcytologic, sonographic, hematologic and hormonal findings (progesterone P4, 17β estradiol E2). As basic diagnoses could be made: Cycle aberrations (n = 8), pyometra endometritis complex (n = 4), vaginal tumor (n = 4). In addition 3 patients were presented with alopecia. All patients were ovariohysterectomized without prior conservative treatment and the ovaries histologically examined and classified. Based on sonographic findings before and macroscopic evaluation the ovaries after surgery, the OCS could be divided into an oligocystic and polycystic syndrome. There were predominating (94 %) follicle theca cysts. The formation of cysts on the ovary was in the vast majority (66.7 %) combined with corpora lutea. The endometrium showed mainly (50 %) a glandular cystic hyperplasia (CHE) and the hematologic examination revealed in 31.2 % of the patients a combination of advanced erythropenia and thrombocytopenia. Generally there was no direct relationship between increased P4 and E2 values in the pooled cyst fluid and in the peripheral blood when the oestrous phase was considered. Based on present data the diagnosis of OCS of the bitch by means of peripheral P4 and E2 values is not possible. PMID:24091229

  13. [Clinical and medicine characteristics of patients with Parkinson's syndrome].

    PubMed

    Liu, Huan; Xie, Yan-Ming; Yi, Dan-Hui; Wang, Yong-Yan

    2014-09-01

    This study analyze the characteristics and clinical medicine in 17 hospitals all over China, based on hospital information system diagnostic information database, including 4 497 cases of hospitalized patients with Parkinson's syndrome. Results indicate, the most common comorbidities are infarction, hypertension, coronary heart disease, diabetes and lung infections, including cerebral infarction, the combined incidence of hypertension in men reached 33.46% and 30.05%, respectively, it is slightly lower in the females. Men with coronary heart disease are more than women, women with diabetes and bone disease are more than men. Combined incidence of the disease increases with age, vascular factors occupy an important position. The most common combined diseases in patients with 90 years of age or older are coronary heart disease, lung infection, and often accompanied by metabolic disorders and nutritional emergency, critical care. Constipation, depression, anxiety, sleep disorders, cognitive impairment are common non-motor symptoms. The drug categories associated with Parkinson's core symptoms treatment are about 20% to 30% of clinical medicine, the others are associated with the treatment of combined disease, clinical medicine and disease spectrum consistent. Blood circulation topped Chinese agents applied frequency, reaching 44.52%; laxative drugs accounted for 11.66%; detoxification agent representing 9.46%. The first twenty Chinese medicine of the applying frequency reached 56.07% of the total utilization, including 12 kinds of traditional Chinese medicine injections, accounting for 60%. Therefore, in the diagnosis and treatment of Parkinsons syndrome, the treatment of comorbidities is very important, more attentions should be paid to vascular factors of the disease, Chinese medicine should be more concerned to improve the non-motor symptoms, give full play to the pharmaceutical multi-target, the overall regulation of advantages, integrative medicine, and improve

  14. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

    PubMed

    Singh, Michael N; Lacro, Ronald V

    2016-01-01

    Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the efficacy of β-blockers and angiotensin II receptor blockers for the prophylactic treatment of aortic enlargement in Marfan syndrome, and to provide recommendations for medical therapy on the basis of available evidence. Medical therapy for Marfan syndrome should be individualized according to patient tolerance and risk factors such as age, aortic size, and family history of aortic dissection. The Pediatric Heart Network trial showed that atenolol and losartan each reduced the rate of aortic dilation. All patients with known or suspected Marfan syndrome and aortic root dilation should receive medical therapy with adequate doses of either β-blocker or angiotensin receptor blocker. The Pediatric Heart Network trial also showed that atenolol and losartan are more effective at reduction of aortic root z score in younger subjects, which suggests that medical therapy should be prescribed even in the youngest children with aortic dilation. For patients with Marfan syndrome without aortic dilation, the available evidence is less clear. If aortic dilation is severe and/or progressive, therapy with a combination of β-blocker and angiotensin receptor blocker should be considered, although trial results are mixed with respect to the efficacy of combination therapy vs monotherapy. PMID:26724512

  15. Ocular findings in a case of periorbital giant congenital melanocytic nevus

    PubMed Central

    Raina, Usha K.; Seth, Anisha; Gupta, Anika; Batta, Supriya

    2014-01-01

    Giant congenital melanocytic nevus (GCMN) is a large melanocytic nevus that rarely occurs in the periorbital region. Various systemic, as well as ophthalmic associations, have been reported with GCMN. However, there is only one case report describing ophthalmic findings in periorbital GCMN. We describe the ocular findings in a case of periorbital GCMN. PMID:25378884

  16. Carpal tunnel syndrome severity staging using sonographic and clinical measures

    PubMed Central

    Roll, Shawn C.; Volz, Kevin R.; Fahy, Christine M.; Evans, Kevin D.

    2014-01-01

    Introduction Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Methods Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. Results The severity staging model with best fit (Rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. Discussion This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. PMID:25287477

  17. Clinical findings in obligate carriers of type I Usher syndrome

    SciTech Connect

    Wagenaar, M.; Rahe, B. ter; Aarem, A. van; Huygen, P.; Admiraal, R.

    1995-11-20

    Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage studies were performed and six families showed linkage to chromosome region 11q13.5 while 3 families have so far failed to show linkage to the candidate regions. Eight obligate carriers had an abnormal puretone audiogram. Two different audiometric patterns could be distinguished when hearing loss was corrected for age and sex. Four carriers (24%) had significant sensorineural hearing loss (SNHL) which increased at higher frequencies. The other 13 carriers had SNHL of about 10 dB at 0.25 and 0.5 kHz, but less at higher frequencies. Vestibular findings were generally normal. Electrooculography demonstrated a significant lower mean light peak/dark trough ratio in Usher type I carriers compared to normal control individuals. The methods used in this study were found not to be specific enough to clinically identify carriers of Usher type I syndrome. Nevertheless it is remarkable that a number of obligate carriers showed significant audiological and ophthalmological abnormalities. 29 refs., 1 fig., 3 tabs.

  18. SAPHO Syndrome: Current Developments and Approaches to Clinical Treatment.

    PubMed

    Firinu, Davide; Garcia-Larsen, Vanessa; Manconi, Paolo Emilio; Del Giacco, Stefano R

    2016-06-01

    SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare autoimmune disease which, due to its clinical presentation and symptoms, is often misdiagnosed and unrecognized. Its main features are prominent inflammatory cutaneous and articular manifestations. Treatments with immunosuppressive drugs have been used for the management of SAPHO with variable results. To date, the use of anti-TNF-α agents has proved to be an effective alternative to conventional treatment for unresponsive or refractory SAPHO cases. TNF-α is a pro-inflammatory cytokine and pivotal regulator of other cytokines, including IL-1 β, IL-6, and IL-8, involved in inflammation, acute-phase response induction, and chemotaxis. IL-1 inhibition strategies with anakinra have shown efficacy as first and second lines of treatment. In this review, we will describe the main characteristics of biological drugs currently used for SAPHO syndrome. We also describe some of the promising therapeutic effects of ustekinumab, an antibody against the p40 subunit of IL-12 and IL-23, after failure of multiple drugs including anti-TNF-α and anakinra. We discuss the use and impact of the new anti-IL-1 antagonists involved in the IL-17 blockade, in particular for the most difficult-to-treat SAPHO cases. PMID:27108452

  19. Myelodysplastic syndromes: pathogenesis, functional abnormalities, and clinical implications.

    PubMed Central

    Jacobs, A

    1985-01-01

    The myelodysplastic syndromes represent a preleukaemic state in which a clonal abnormality of haemopoietic stem cell is characterised by a variety of phenotypic manifestations with varying degrees of ineffective haemopoiesis. This state probably develops as a sequence of events in which the earliest stages may be difficult to detect by conventional pathological techniques. The process is characterised by genetic changes leading to abnormal control of cell proliferation and differentiation. Expansion of an abnormal clone may be related to independence from normal growth factors, insensitivity to normal inhibitory factors, suppression of normal clonal growth, or changes in the immunological or nutritional condition of the host. The haematological picture is of peripheral blood cytopenias: a cellular bone marrow, and functional abnormalities of erythroid, myeloid, and megakaryocytic cells. In most cases marrow cells have an abnormal DNA content, often with disturbances of the cell cycle: an abnormal karyotype is common in premalignant clones. Growth abnormalities of erythroid or granulocyte-macrophage progenitors are common in marrow cultures, and lineage specific surface membrane markers indicate aberrations of differentiation. Progression of the disorder may occur through clonal expansion or through clonal evolution with a greater degree of malignancy. Current attempts to influence abnormal growth and differentiation have had only limited success. Clinical recognition of the syndrome depends on an acute awareness of the signs combined with the identification of clonal and functional abnormalities. PMID:2999194

  20. Clinical manifestations of food protein-induced enterocolitis syndrome

    PubMed Central

    Mane, Shikha K.; Bahna, Sami L.

    2014-01-01

    Purpose of review To raise awareness among healthcare providers about the clinical and laboratory findings in acute and chronic food protein-induced enterocolitis syndrome (FPIES). Recent findings FPIES can be caused by trivial exposure or rare foods. Summary FPIES is a non-IgE-mediated reaction that usually presents with acute severe repetitive vomiting and diarrhea associated with lethargy, pallor, dehydration, and even hypovolemic shock. Manifestations resolve usually within 24–48 h of elimination of the causative food. In chronic cases, symptoms may include persistent diarrhea, poor weight gain, failure to thrive, and improvement may take several days after the food elimination. In the acute cases, laboratory evaluation may reveal thrombocytosis and neutrophilia, peaking about 6 h postingestion. Depending on the severity, metabolic acidosis and methemoglobinemia may occur. In chronic cases, anemia, hypoalbuminemia and eosinophilia may be seen. Radiologic evaluation or other procedures, such as endoscopy and gastric juice analysis may show nonspecific abnormal findings. The diagnosis is based on clinical manifestations. Further studies looking at the phenotypes of FPIES are needed to identify clinical subtypes, and to understand the predisposing factors for developing FPIES compared with immediate-type, IgE-mediated gastroenteropathies. PMID:24651279

  1. Linking Doses with Clinical Scores of Hematopoietic Acute Radiation Syndrome.

    PubMed

    Hu, Shaowen

    2016-10-01

    In radiation accidents, determining the radiation dose the victim received is a key step for medical decision making and patient prognosis. To reconstruct and evaluate the absorbed dose, researchers have developed many physical devices and biological techniques during the last decades. However, using the physical parameter "absorbed dose" alone is not sufficient to predict the clinical development of the various organs injured in an individual patient. In operational situations for radiation accidents, medical responders need more urgently to classify the severity of the radiation injury based on the signs and symptoms of the patient. In this work, the author uses a unified hematopoietic model to describe dose-dependent dynamics of granulocytes, lymphocytes, and platelets, and the corresponding clinical grading of hematopoietic acute radiation syndrome. This approach not only visualizes the time course of the patient's probable outcome in the form of graphs but also indirectly gives information of the remaining stem and progenitor cells, which are responsible for the autologous recovery of the hematopoietic system. Because critical information on the patient's clinical evolution can be provided within a short time after exposure and only peripheral cell counts are required for the simulation, these modeling tools will be useful to assess radiation exposure and injury in human-involved radiation accident/incident scenarios. PMID:27575346

  2. Progress in Rett Syndrome: from discovery to clinical trials.

    PubMed

    Percy, Alan K

    2016-09-01

    Fifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled. PMID:27491553

  3. Clinical trials in irritable bowel syndrome: a review.

    PubMed

    Ervin, Claire M; Mangel, Allen W

    2013-03-01

    Irritable bowel syndrome (IBS) is one of the most common gastrointestinal disorders and it is characterized by episodes of abdominal pain and altered bowel functions. The specific bowel disturbances of diarrhea, constipation or an alternation between the two defines the IBS subtypes of diarrhea-predominant, constipation-predominant, and mixed or alternating IBS. Because of the abnormalities in bowel states associated with each IBS subtype, it is not likely that one agent would successfully treat all three subtypes. As a result, clinical trials have focused, for the most part, on one IBS subtype. Over the past 2 decades very few agents have achieved regulatory approval for the treatment of IBS. In the present article we review publications reporting on phase 2 and phase 3 studies evaluating agents to potentially be used in the treatment of patients with IBS. PMID:23130604

  4. Clinical features in adult patient with Wolf-Hirschhorn syndrome.

    PubMed

    Martínez-Quintana, E; Rodríguez-González, F

    2014-06-01

    The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients. PMID:24656633

  5. Clinical characteristics in Taiwanese women with polycystic ovary syndrome

    PubMed Central

    2015-01-01

    Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age. PMID:26473107

  6. Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

    PubMed Central

    Costa, Luisa; Atteno, Mariangela; Compagnone, Adele; Caso, Paolo; Frediani, Bruno; Galeazzi, Mauro; Punzi, Leonardo

    2013-01-01

    Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists. PMID:24282415

  7. Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

    PubMed

    Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J

    2007-10-01

    Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. PMID:17846997

  8. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

    PubMed

    Stockler, Sylvia; Schutz, Peter W; Salomons, Gajja S

    2007-01-01

    Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that affects the creatine transporter, SLC6A8 deficiency (SLC6A8; MIM 300036). The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain, and specific disturbances in metabolites of creatine metabolism in body fluids. In urine and plasma, abnormal guanidinoacetic acid (GAA) levels are found in AGAT deficiency (reduced GAA) and in GAMT deficiency (increased GAA). In urine of males with SLC6A8 deficiency, an increased creatine/creatinine ratio is detected. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy. Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be discovered. CCDSs may be responsible for a considerable fraction of children and adults affected with mental retardation of unknown etiology. Thus, screening for this group of disorders should be included in the differential diagnosis of this population. In this review, also the importance of CCDSs for the unravelling of the (patho)physiology of cerebral creatine metabolism is discussed. PMID:18652076

  9. Neuroleptic Malignant Syndrome: A Review from a Clinically Oriented Perspective

    PubMed Central

    Tse, Lurdes; Barr, Alasdair M.; Scarapicchia, Vanessa; Vila-Rodriguez, Fidel

    2015-01-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening sideeffect that can occur in response to treatment with antipsychotic drugs. Symptoms commonly include hyperpyrexia, muscle rigidity, autonomic dysfunction and altered mental status. In the current review we provide an overview on past and current developments in understanding the causes and treatment of NMS. Studies on the epidemiological incidence of NMS are evaluated, and we provide new data from the Canada Vigilance Adverse Reaction Online database to elaborate on drug-specific and antipsychotic drug polypharmacy instances of NMS reported between 1965 and 2012. Established risk factors are summarized with an emphasis on pharmacological and environmental causes. Leading theories about the etiopathology of NMS are discussed, including the potential contribution of the impact of dopamine receptor blockade and musculoskeletal fiber toxicity. A clinical perspective is provided whereby the clinical presentation and phenomenology of NMS is detailed, while the diagnosis of NMS and its differential is expounded. Current therapeutic strategies are outlined and the role for both pharmacological and non-pharmacological treatment strategies in alleviating the symptoms of NMS are discussed. PMID:26411967

  10. [Tourette syndrome: from a neurological clinic to a multidisciplinary approach].

    PubMed

    Benarroch, Fortu; Warman, Orly; Gross-Tsur, Varda

    2006-04-01

    Tourette Syndrome (TS) is a chronic, familial disorder, characterized by involuntary motor and phonic tics that wax and wane in severity. TS is frequently accompanied by behavioral, emotional and cognitive problems that are often more incapacitating than the tic disorder itself. After a review of the disorder, in which the multidisciplinary aspects are emphasized, the article describes the clinical features of 60 children with TS, 49 boys and 11 girls, aged 13 +/- 3.6 years (mean SD), treated in the Neuropediatric Unit at Shaare Zedek Medical Center. The children described had both motor and vocal tics, but also had ADHD (n = 44), obsessive-compulsive disorder (n = 32), learning disabilities (with 12 children learning in special education frameworks) and behavioral disorders (n = 36). The clinical profile of this group of children with TS is similar to that reported on referred patients regardless of cultural background. Since children with TS manifest multiple comorbidities, optimal therapy mandates the cooperation of a multidisciplinary team including a pediatric neurologist, a child psychiatrist, a psychologist and a family therapist. Working in concert, these specialists can implement a multimodal approach, addressing the neurological and psychiatric aspects of TS as well as enhancing the child's coping skills with the disorder itself and its consequences. PMID:16642633

  11. [MELAS syndrome. Clinical aspects, MRI, biochemistry and molecular genetics].

    PubMed

    Damian, M S; Reichmann, H; Seibel, P; Bachmann, G; Schachenmayr, W; Dorndorf, W

    1994-04-01

    MELAS is a mitochondrial cytopathy characterized by encephalopathy with stroke-like episodes and lactic acidosis. Most patients exhibit an A-G transition mutation at np 3243 of mitochondrial DNA (tRNA(Leu)(UUR)). We present a family of four in which the mutation was discovered in blood and in muscle mt DNA. Two patients had the classic MELAS syndrome with multiple stroke-like episodes. Some episodes were precipitated by metabolic stress. The remaining two patients had an oligosymptomatic disease with mild chronic encephalopathy, small stature and hearing loss. MRI was followed over a period of 4-8 years, during which the MELAS patients showed progression from nonspecific multifocal signal change to typical extensive cortico-subcortical parieto-occipital lesions and progressive cerebral atrophy. MRI in the oligosymptomatic cases was normal, or showed non-progressive cerebellar atrophy. Biochemical findings were non-specific, indicating increased mitochondrial volume in all cases, and a relatively complex IV defect in one case. All patients were treated with coenzyme Q with varying clinical response. The percentage of mutant mt DNA in blood and muscle did not correlate with clinical severity. Pathogenetic theories based on molecular genetics, and the therapeutic regimen in terms of the underlying biochemical concepts are discussed. PMID:8015633

  12. Melanin Index in Assessing the Treatment Efficacy of 1064 nm Q Switched Nd-Yag Laser in Nevus of Ota

    PubMed Central

    Sethuraman, Gomathy; Sharma, Vinod K; Sreenivas, Vishnubhatla

    2013-01-01

    Background: Q-switched neodymium-yttrium aluminium-garnet (Q switched Nd-Yag) laser has been used in the treatment of nevus of Ota in all skin types with variable success rate. Data with an objective assessment parameter to this laser treatment is lacking. Objective: To evaluate the utility of melanin index in assessing the treatment response and also determine the efficacy and safety of the Q-switched Nd-Yag laser (1064-nm) in the treatment of nevus of Ota in Fitzpatrick skin types IV and V. Materials and Methods: A total of 35 patients treated with Nd-Yag laser were studied. The objective improvement (pigment clearance) was determined by melanin index from two fixed points: A1, 2 cm below the pupil at the mid pupillary line (when the gaze is fixed); A2, the most prominent part of zygoma. The melanin index in these two areas was recorded as M1 and M2, respectively. The subjective clinical improvement was determined by the physician and the patient global assessment score. Results: The mean baseline melanin indices M1 and M2 were 59.54 ± 9.72 and 59.02 ± 9.16, respectively. At the last visit the mean M1 and M2 decreased to 53.8 ± 8.55 (P < 0.001) and 54.13 ± 6.01 (P < 0.001), respectively. Patient and the physician global assessment score showed that 26 (74.3%) and 20 (57.14%) patients, respectively, had >50% pigment clearance. Conclusion: The melanin index, a simple non-invasive parameter is useful in assessing the treatment response more objectively. The 1064-nm Q-switched Nd-Yag laser offers good improvement in patients with nevus of Ota in darker skin types IV/V. PMID:24470713

  13. A Retrospective Study on the Characteristics of Treating Nevus of Ota by 1064-nm Q-switched Neodymium-doped Yttrium Aluminum Garnet Laser

    PubMed Central

    Liu, Yanting; Zeng, Weihui; Geng, Songmei

    2016-01-01

    Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG) laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male) of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8%) acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05). The blue-black and brown lesions improved more than the light-brown (P < 0.05). Hyperpigmentation affected two (1.2%) of the patients and hypopigmentation affected one patient (0.6%). No other adverse effect was observed. Recurrence was seen in two patients (1.2%). Conclusion: The 1064-nm QS Nd:YAG laser is effective with rare complications and recurrence in the treatment of nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis. PMID:27293272

  14. Randomized controlled trial of atorvastatin in clinically isolated syndrome

    PubMed Central

    Waubant, E.; Pelletier, D.; Mass, M.; Cohen, J.A.; Kita, M.; Cross, A.; Bar-Or, A.; Vollmer, T.; Racke, M.; Stüve, O.; Schwid, S.; Goodman, A.; Kachuck, N.; Preiningerova, J.; Weinstock-Guttman, B.; Calabresi, P.A.; Miller, A.; Mokhtarani, M.; Iklé, D.; Murphy, S.; Kopetskie, H.; Ding, L.; Rosenberg, E.; Spencer, C.; Zamvil, S.S.; Waubant, E.; Pelletier, D.; Mass, M.; Bourdette, D.; Egan, R.; Cohen, J.; Stone, L.; Kita, M.; Elliott, M.; Cross, A.; Parks, B.J.; Bar-Or, A.; Vollmer, T.; Campagnolo, D.; Racke, M.; Stüve, O.; Frohman, E.; Schwid, S.; Goodman, A.; Segal, B.; Kachuck, N.; Weiner, L.; Preiningerova, J.; Carrithers, M.; Weinstock-Guttman, B.; Calabresi, P.; Kerr, D.; Miller, A.; Lublin, F.; Sayre, Peter; Hayes, Deborah; Rosenberg, Ellen; Gao, Wendy; Ding, Linna; Adah, Steven; Mokhtarani, Masoud; Neuenburg, Jutta; Bromstead, Carolyn; Olinger, Lynn; Mullen, Blair; Jamison, Ross; Speth, Kelly; Saljooqi, Kerensa; Phan, Peter; Phippard, Deborah; Seyfert-Margolis, Vicki; Bourcier, Katarzyna; Debnam, Tracia; Romaine, Jennifer; Wolin, Stephanie; O'Dale, Brittany; Iklé, David; Murphy, Stacey; Kopetskie, Heather

    2012-01-01

    Objective: To test efficacy and safety of atorvastatin in subjects with clinically isolated syndrome (CIS). Methods: Subjects with CIS were enrolled in a phase II, double-blind, placebo-controlled, 14-center randomized trial testing 80 mg atorvastatin on clinical and brain MRI activity. Brain MRIs were performed quarterly. The primary endpoint (PEP) was development of ≥3 new T2 lesions, or one clinical relapse within 12 months. Subjects meeting the PEP were offered additional weekly interferon β-1a (IFNβ-1a). Results: Due to slow recruitment, enrollment was discontinued after 81 of 152 planned subjects with CIS were randomized and initiated study drug. Median (interquartile range) numbers of T2 and gadolinium-enhancing (Gd) lesions were 15.0 (22.0) and 0.0 (0.0) at baseline. A total of 53.1% of atorvastatin recipients (n = 26/49) met PEP compared to 56.3% of placebo recipients (n = 18/32) (p = 0.82). Eleven atorvastatin subjects (22.4%) and 7 placebo subjects (21.9%) met the PEP by clinical criteria. Proportion of subjects who did not develop new T2 lesions up to month 12 or to starting IFNβ-1a was 55.3% in the atorvastatin and 27.6% in the placebo group (p = 0.03). Likelihood of remaining free of new T2 lesions was significantly greater in the atorvastatin group compared with placebo (odds ratio [OR] = 4.34, p = 0.01). Likelihood of remaining free of Gd lesions tended to be higher in the atorvastatin group (OR = 2.72, p = 0.11). Overall, atorvastatin was well tolerated. No clear antagonistic effect of atorvastatin plus IFNβ-1a was observed on MRI measures. Conclusion: Atorvastatin treatment significantly decreased development of new brain MRI T2 lesion activity, although it did not achieve the composite clinical and imaging PEP. Classification of Evidence: This study provided Class II evidence that atorvastatin did not reduce the proportion of patients with CIS meeting imaging and clinical criteria for starting immunomodulating therapy after 12 months

  15. [Brain MRI findings in Japanese patients with clinically isolated syndrome].

    PubMed

    Tanaka, Masami; Motoyama, Rie; Tahara, Masayuki; Tanaka, Keiko

    2012-01-01

    Treatment of patients with clinically isolated syndrome (CIS) with disease modifying drugs including interferon β delays conversion to clinically definite multiple sclerosis (MS). However, CIS patients do not necessarily develop MS even after 20 years. Brain MRI lesions were required for CIS patients to include in clinical trials such as CHAMPS study and BENEFIT study. CIS patients with brain MRI lesions compatible to MS were considered as high risk to convert to MS in western countries. Previously we reported that asymptomatic enhancing brain lesions (AEBLs) were found in 9/23 (39.1%) of MS patients who had suffered at least one relapse in the preceding year or two relapses in the preceding 2 years, and the number of AEBLs per scan was 0.37, suggesting low disease activity of Japanese MS patients. We examined brain MRI findings in Japanese CIS patients and compared with those of Japanese MS patients at the first presentation. We reviewed brain MRI of 23 CIS visited our clinic from December 2007 to October 2010 who fulfilled the criteria proposed by Kappos et al. (2006) and Dalton et al (2002). Thirty two clinically definite MS (CDMS) patients fulfilled the first McDonald criteria (two or more attacks and objective clinical evidence of two or more lesions) proposed by Polman et al. (2005). Patients with neuromyelitis optica (NMO) and patients with NMO spectrum proposed by Wingerchuk et al. (2006) and Wingerchuk et al. (2007), respectively, were excluded. Patients with anti-aquaporin4 antibodies or with contiguous spinal cord lesion extending over three vertebral segments on MRI were also excluded. We could not obtain MRI of 11 patients with CDMS because of very long disease course, and 2 CIS and 13 CDMS patients had not been examined with MRI. So we examined 21 CIS and 8 CDMS patients at the first presentation using Paty criteria and Barkhof criteria. Eleven CIS patients did not meet any of the Barkhof criteria. Seven and 3 CIS patients met one and two of Barkhof

  16. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age.

    PubMed

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R; Stewart Usher, Jorge; Rey, Rodolfo A; Martínez, María P; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m(2). In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  17. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    PubMed Central

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  18. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Muenke, Maximilian

    2014-01-01

    Purpose More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. Methods A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Results Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Conclusions Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach. PMID:22872262

  19. Diagnosis of antiphospholipid syndrome in routine clinical practice

    PubMed Central

    Hills, J; Machin, SJ; Cohen, H

    2013-01-01

    The updated international consensus criteria for definite antiphospholipid syndrome (APS) are useful for scientific clinical studies. However, there remains a need for diagnostic criteria for routine clinical use. We audited the results of routine antiphospholipid antibodies (aPLs) in a cohort of 193 consecutive patients with aPL positivity-based testing for lupus anticoagulant (LA), IgG and IgM anticardiolipin (aCL) and anti-ß2glycoprotein-1 antibodies (aß2GPI). Medium/high-titre aCL/aβ2GPI was defined as >99th percentile. Low-titre aCL/aβ2GPI positivity (>95th < 99th percentile) was considered positive for obstetric but not for thrombotic APS. One hundred of the 145 patients fulfilled both clinical and laboratory criteria for definite APS. Twenty-six women with purely obstetric APS had persistent low-titre aCL and/or aβ2GPI. With the inclusion of these patients, 126 of the 145 patients were considered to have APS. Sixty-seven out of 126 patients were LA-negative, of whom 12 had aCL only, 37 had aβ2GPI only and 18 positive were for both. The omission of aCL or aβ2GPI testing from investigation of APS would have led to a failure to diagnose APS in 9.5% and 29.4% of patients, respectively. Our data suggest that LA, aCL and aβ2GPI testing are all required for the accurate diagnosis of APS and that low-titre antibodies should be included in the diagnosis of obstetric APS. PMID:22988029

  20. Clinical predictors of functioning in persons with acquired immunodeficiency syndrome.

    PubMed

    Wilson, I B; Cleary, P D

    1996-06-01

    To help clinicians better assess and treat functional disabilities in persons with acquired immunodeficiency syndrome (AIDS), the authors estimate empirical relations among biologic and physiologic variables, symptoms, and physical functioning in persons with AIDS. The sample of 305 persons with AIDS for this cross-sectional analysis came from three sites in Boston, Massachusetts: a hospital-based group practice, a human immunodeficiency virus clinic at a city hospital, and a staff-model health maintenance organization. Physical functioning, 10 AIDS-specific symptoms, and mental health were assessed by interview. Clinical diagnoses, comorbidities, health habits such as smoking, laboratory results, and selected medication use were assessed by chart review. Significant predictors of physical functioning P < 0.01, R2 = .58) in a multivariable regression model included energy/fatigue, neurologic symptoms, fever symptoms, a lower hemoglobin level, and current non-pneumonia bacterial infection. Ninety-six percent of the explained variance in physical functioning was accounted for by three symptom complexes: energy/fatigue, neurologic symptoms, and fever symptoms. Significant predictors of energy/fatigue in multivariable models included poorer mental health, lower white blood cell count, longer time since diagnosis, and weight loss (P < 0.01, R2 =.36). Significant predictors of neurologic symptoms included poorer mental health, weight loss, and no zidovudine use (P < 0.001, R2 = .30). Predictors of fever symptoms included poorer mental health, no zidovudine use, weight loss, and history of asthma or chronic obstructive pulmonary disease (P < 0.05, R2 = .25). In conclusion, symptom reports were strong predictors of physical functioning. Poorer mental health and weight loss were correlated consistently with worse symptoms, and not using zidovudine was correlated with worse neurologic and fever symptoms. These variables, and the others the authors identified, may represent

  1. FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

    PubMed Central

    Clark, Robin Dawn; Graham, John M.; Friez, Michael J.; Hoo, Joe J.; Jones, Kenneth Lyons; McKeown, Carole; Moeschler, John B.; Raymond, F. Lucy; Rogers, R. Curtis; Schwartz, Charles E.; Battaglia, Agatino; Lyons, Michael J.; Stevenson, Roger E.

    2014-01-01

    FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family. Six patients are reviewed in detail. These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. Traits that best discriminated between these two groups were chosen to develop an algorithm with high sensitivity and specificity for the p.R961W MED12 mutation. FG syndrome has a recognizable dysmorphic phenotype with a high incidence of congenital anomalies. A family history of X-linked mental retardation, deceased male infants, and/or multiple fetal losses was documented in all families. The algorithm identifies the p.R961W MED12 mutation-positive group with 100% sensitivity and 90% spec-ificity. The clinical phenotype of FG syndrome defines a recognizable pattern of X-linked multiple congenital anomalies and cognitive impairment. This algorithm can assist the clinician in selecting the patients for testing who are most likely to have the recurrent p.R961W MED12 mutation. PMID:19938245

  2. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    PubMed Central

    Lacerda, Letícia da Silva; Alves, Úrsula David; Zanier, José Fernando Cardona; Machado, Dequitier Carvalho; Camilo, Gustavo Bittencourt; Lopes, Agnaldo José

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions. PMID:25009745

  3. Mycosis fungoides and Sézary syndrome: clinical, histopathological and immunohistochemical review and update*

    PubMed Central

    Yamashita, Thamy; Abbade, Luciana Patricia Fernandes; Marques, Mariangela Esther Alencar; Marques, Silvio Alencar

    2012-01-01

    This paper reviews the diagnostic and classificatory concepts of mycosis fungoides and Sézary syndrome in light of the latest normative publications. It describes the great variability of the clinical expression of mycosis fungoides in its early stages as well as the histopathological and immunohistochemical aspects that help with diagnosis. The diagnostic criteria required for characterizing Sézary syndrome and the staging system used for both mycosis fungoides and Sézary syndrome are described. PMID:23197199

  4. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    PubMed

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-01

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies. PMID:26321587

  5. Predictors of disability worsening in clinically isolated syndrome

    PubMed Central

    Jokubaitis, Vilija G; Spelman, Tim; Kalincik, Tomas; Izquierdo, Guillermo; Grand'Maison, François; Duquette, Pierre; Girard, Marc; Lugaresi, Alessandra; Grammond, Pierre; Hupperts, Raymond; Cabrera-Gomez, José; Oreja-Guevara, Celia; Boz, Cavit; Giuliani, Giorgio; Fernández-Bolaños, Ricardo; Iuliano, Gerardo; Lechner-Scott, Jeannette; Verheul, Freek; van Pesch, Vincent; Petkovska-Boskova, Tatjana; Fiol, Marcela; Moore, Fraser; Cristiano, Edgardo; Alroughani, Raed; Bergamaschi, Roberto; Barnett, Michael; Slee, Mark; Vella, Norbert; Herbert, Joseph; Shaw, Cameron; Saladino, Maria Laura; Amato, Maria Pia; Liew, Danny; Paolicelli, Damiano; Butzkueven, Helmut; Trojano, Maria

    2015-01-01

    Objective To assess demographic, clinical, magnetic resonance imaging, and treatment exposure predictors of time to 3 or 12-month confirmed disability worsening in clinically isolated syndrome (CIS) and early multiple sclerosis (MS). Methods We utilized the MSBase Incident Study (MSBasis), a prospective cohort study of outcome after CIS. Predictors of time to first 3 and 12-month confirmed expanded disability status scale worsening were analyzed using Cox proportional hazards regression. Results About 1989 patients were analyzed, the largest seen-from-onset cohort reported to-date. A total of 391 patients had a first 3-month confirmed disability worsening event, of which 307 were sustained for 12 months. Older age at CIS onset (adjusted hazard ratio: aHR 1.17, 95% 1.06, 1.30), pyramidal (aHR 1.45, 95% CI 1.13, 1.89) and ambulation (HR 1.60, 95% CI 1.09, 2.34) system dysfunction, annualized relapse rate (aHR 1.20, 95% CI 1.18, 1.22), and lower proportion of observation time on treatment were associated with 3-month confirmed worsening. Predictors of time to 12-month sustained worsening included pyramidal system dysfunction (Hazard ratio: aHR 1.38, 95% CI 1.05, 1.83), and older age at CIS onset (aHR 1.17, 95% CI 1.04, 1.31). Greater proportion of follow-up time exposed to treatment was associated with greater reductions in the rate of worsening. Interpretation This study provides class IV evidence for a strong protective effect of disease-modifying treatment to reduce disability worsening events in patients with CIS and early MS, and confirms age and pyramidal dysfunction at onset as risk factors. PMID:26000321

  6. Clinical analysis of kasabach-merritt syndrome in 17 neonates

    PubMed Central

    2014-01-01

    Background Kasabach-Merritt syndrome (KMS) is characterized by giant hemangiomas and severe thrombocytopenia, which may result in life-threatening multi-organ hemorrhage. This study evaluated the clinical characteristics, treatments, and outcomes in neonates with KMS, in order to find out the optimal therapy. Methods The clinical data of 17 patients treated for KMS in the Department of Neonates, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, China from January 2007 to January 2012 were retrospectively analyzed. Results The patients were 13 males and 4 females, aged 17 hours to 28 days at admission. Four patients had visceral hemangiomas and 13 had cutaneous hemangiomas. All had thrombocytopenia and coagulation disorders. Intravenous steroid therapy was initially effective in 6 patients (of which 3 relapsed) and ineffective in 11. The 11 patients with a poor response to steroids and the 3 who relapsed underwent arterial embolization therapy, which was effective in 9 patients (of which 1 relapsed), ineffective in 4, and discontinued before completion in 1. Subsequently, four patients in whom arterial embolization therapy was ineffective and one with relapse were treated with vincristine. This was effective in four patients, and the other died of disseminated intravascular coagulation. Steroid therapy was effective in 35.3% of patients, but the relapse rate was 50%. Arterial embolization was effective in 64.3% of patients and vincristine was effective in 80%. Conclusions In patients with neonatal KMS, steroid therapy has a low rate of effectiveness and high rate of relapse. Arterial embolization has a good rate of effectiveness. Combined steroid and embolization therapy should be considered for first-line treatment of neonatal KMS. If this approach is ineffective, vincristine may be useful. PMID:24920221

  7. Clinical management of food protein-induced enterocolitis syndrome

    PubMed Central

    Miceli Sopo, Stefano; Dello Iacono, Iride; Greco, Monica; Monti, Giovanna

    2014-01-01

    Purpose of review The article discusses the clinical management of patients affected by food protein-induced enterocolitis syndrome (FPIES), focusing on established therapeutic choices and future options. Recent findings After FPIES has been diagnosed and avoidance of the culprit food prescribed, the most important management needs are as follows. First, recurrence of acute FPIES episodes due to accidental ingestion of culprit food. It may be useful to give patients’ families an action plan. The principal suggested treatments are intravenous fluids and steroids, whereas the use of epinephrine and ondansetron requires further study. In mild-to-moderate cases, oral rehydration should be sufficient. Second, dietary introduction of at-risk foods. In children with FPIES, in addition to that/those identified as culprit(s), some foods may not be tolerated (typically cow's milk, legumes, cereals, poultry). It has been suggested to avoid introducing these foods during the baby's first year. Otherwise, they may be given for the first time in hospital, performing an oral food challenge. Third, acquisition of tolerance. Children affected by cow's milk-FPIES have a good chance of acquiring tolerance by the time they reach age 18–24 months. For other culprit foods, insufficient data are available to indicate the appropriate time, so that it is suggested that an oral food challenge be performed about 1  year after the last acute episode. Summary Future clinical management of FPIES must take into account, among other factors, improved understanding of pathogenesis, possible detection of different phenotypes, and the introduction of more effective therapies for acute episodes. These factors will undoubtedly influence management decisions, which will become more diversified and effective. PMID:24686275

  8. Angelman syndrome: a review of the clinical and genetic aspects.

    PubMed

    Clayton-Smith, J; Laan, L

    2003-02-01

    Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region. UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression. PMID:12566516

  9. Factors related to sleep apnea syndrome in sleep clinic patients.

    PubMed

    Dealberto, M J; Ferber, C; Garma, L; Lemoine, P; Alpérovitch, A

    1994-06-01

    We examined 129 patients recruited from two sleep clinics to study the sleep apnea syndrome (SAS), defined by the apnea-hypopnea index (AHI) > or = 10. Information was registered from a self-administered questionnaire, basal physical measurements, and polysomnography. In 68 subjects recorded for two consecutive nights, a high correlation was found between first- and second-night AHIs (r = 0.89). Habitual loud snoring and breathing arrests during sleep were associated with AHI > or = 10. A model including these two variables, sex, age, and body mass index was created in order to predict AHI > or = 10 and with which it was possible to successfully classify almost three of four patients. Among subjective sleep questionnaire items, only daytime sleepiness was related to drops of transcutaneous oxygen tension. These discrepancies in the observed relationship between sleep parameters and subjective sleep items reduce the questionnaire value in epidemiologic settings where it aimed to detect SAS, as defined solely by the AHI value. PMID:8205872

  10. Practical management of irritable bowel syndrome: a clinical review.

    PubMed

    Almquist, Ellinor; Törnblom, Hans; Simrén, Magnus

    2016-03-01

    Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder, frequently managed by general practitioners and gastroenterologists. It is a complex condition, characterized by abdominal pain or discomfort associated with altered bowel habits, and it affects 11% of the population worldwide. It has a profound effect on quality of life for many patients and poses a substantial cost to society. Due to the complexity and diversity of IBS, diagnosis and treatment can be challenging. Common drawbacks in diagnosing and treating this disorder include unnecessary tests, failure to establish trust in the physician-patient relationship and difficulties in explaining the diagnosis. Research in recent years has however refined the diagnostic criteria and improved our ability to safely identify IBS with a limited number of investigations. A concise diagnostic evaluation, guided adequate information, prompt initiation of symptom-guided treatment and consistency in the patient-doctor relationship can help relieve the suffering experienced by patients with IBS. For patients with mild symptoms, reassurance, education, lifestyle changes and dietary advice are often sufficient. Patients with moderate to severe symptoms might need symptom modifying drugs, and psychological treatments such as CBT or hypnotherapy may be offered at this stage. For patients with severe and incapacitating symptoms, a multidisciplinary approach is recommended and psychotropic drugs are often used. This clinical review offers suggestions for a diagnostic approach as well as a treatment strategy, based on the current evidence on pathophysiology, diagnosis and treatment in IBS. PMID:26448307

  11. Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.

    PubMed

    Kaur, Tejinder; Sharma, Nidhi; Sethi, Anisha; Kooner, Shitij; Banger, Harmeet

    2015-01-01

    Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). The other patient is a 5-year-old boy with Sturge-Weber syndrome, Klippel-Trenaunay syndrome, aplasia of iliac, femoral, and popliteal veins and congenital heart disease, associated with aberrant dermal melanocytosis and melanosis oculi (also classified as PPV type IIb or phacomatosis cesioflammea). These sporadic cases display a unique constellation of additional, previously unreported systemic associations, which will further expand the clinical spectrum of phacomatosis pigmentovascularis. PMID:26437284

  12. [Vascular nevus. A study of its frequency, types and course].

    PubMed

    Tincopa Wong, O; Meléndez Guevara, G; Peláez Gutiérrez, R; Sánchez Aznaran, N; Paolo Razuri, C

    1990-01-01

    It is presented a prospective study of vascular nevus during a year, with the finality to know its frequency, types and evolution. In twelve months of study, we founded in 1,485 borns that 14.14% presented those lesiones salmon stain 86%, oport wine 1.35%, capilar hemangioma or in strawberry the 10.81%, cavernous hemangioma the 0.45% and mixed hemangioma the 1.35%. Where more frequent in females that in males as well as from the urban zone in almost more than the half of the cases. Dimensions were between 0 to 5 cm. range, 98% in salmon stain, 95% in strawberry hemangioma, 66.3% mixed hemangioma, 66.6% in oport wine stain distributed in the head in more proportion. There was salmon stain in the nape in 61.7%, 15% in the forehead and in the superior eyelids 14.3%. The familiar antecedents of vascular nevus in brothers was of 4.76%, 5.71% in uncle, 2.98% in parents and 1.43% in grandparents. The evolution was not concluded because of desertion in almost the totality of patients, finalizing with only the 6.66%. Our findings are different from those published in the literature. The total frequency is more in our experience in salmon, oport wine stains and hemangiomas. PMID:2214937

  13. Obstructive sleep apnea in young infants with Down syndrome evaluated in a Down syndrome specialty clinic.

    PubMed

    Goffinski, Alida; Stanley, Maria A; Shepherd, Nicole; Duvall, Nichole; Jenkinson, Sandra B; Davis, Charlene; Bull, Marilyn J; Roper, Randall J

    2015-02-01

    Children with Down syndrome (DS) experience congenital and functional medical issues that predispose them to obstructive sleep apnea (OSA). Research utilizing stringent age criteria among samples of infants with DS and OSA is limited. This study examines clinical correlates of OSA among infants with DS. A retrospective chart review was conducted of infants ≤6 months of age referred to a DS clinic at a tertiary children's hospital over five-years (n = 177). Chi-square tests and binary logistic regression models were utilized to analyze the data. Fifty-nine infants underwent polysomnography, based on clinical concerns. Of these, 95% (56/59) had studies consistent with OSA. Among infants with OSA, 71% were identified as having severe OSA (40/56). The minimum overall prevalence of OSA among the larger group of infants was 31% (56/177). Significant relationships were found between OSA and dysphagia, congenital heart disease (CHD), prematurity, gastroesophageal reflux disease (GERD), and other functional and anatomic gastrointestinal (GI) conditions. Results indicate that odds of OSA in this group are higher among infants with GI conditions in comparison to those without. Co-occurring dysphagia and CHD predicted the occurrence of OSA in 36% of cases with an overall predictive accuracy rate of 71%. Obstructive sleep apnea is relatively common in young infants with DS and often severe. Medical factors including GI conditions, dysphagia and CHD may help to identify infants who are at greater risk and may warrant evaluation. Further studies are needed to assess the impact of OSA in infants with DS. PMID:25604659

  14. Clinical Characteristics of Adults with Asperger's Syndrome Assessed with Self-Report Questionnaires

    ERIC Educational Resources Information Center

    Kanai, Chieko; Iwanami, Akira; Ota, Haruhisa; Yamasue, Hidenori; Matsushima, Eisuke; Yokoi, Hideki; Shinohara, Kazuyuki; Kato, Nobumasa

    2011-01-01

    Diagnosis of Asperger's Syndrome (AS) in adults is difficult, and clinical sample-based studies that systematically illustrate the clinical characteristics of adult AS patients are needed so that appropriate treatment can be provided. Here we examined the clinical characteristics of AS in 112 adults (median age, 28.0 years [range, 18-52]; 71 men…

  15. Psychologists' Clinical Practices in Assessing Dementia in Individuals with Down Syndrome

    ERIC Educational Resources Information Center

    Auty, Ellen; Scior, Katrina

    2008-01-01

    There are now ample guidelines for the assessment and diagnosis of possible dementia in individuals with intellectual disabilities (ID) and Down syndrome. However, little is known about their implementation in clinical practice. This study set out to examine the clinical practice of one key professional group, namely clinical psychologists. A…

  16. Combined Cellular Blue Nevus and Trichoepithelioma

    PubMed Central

    Martin, Richard; Emanuel, Patrick

    2013-01-01

    Biphasic lesions composed of melanocytic and epithelial components are not uncommon. Combined trichoepithelioma and cellular blue naevus is a rare lesion that may mimic melanoma clinically. The authors describe what they believe to be the fourth case of this rare tumor and review the literature. Recent descriptions of malignant basomelanocytic tumors have raised interesting questions surrounding the pathogenesis of lesions composed of these cell lineages. PMID:24003350

  17. Toad Intoxication in the Dog by Rhinella marina : The Clinical Syndrome and Current Treatment Recommendations.

    PubMed

    Johnnides, Stephanie; Green, Tiffany; Eubig, Paul

    2016-01-01

    Oral exposure to the secretions of Rhinella marina (formerly Bufo marinus ) can carry a high fatality rate without early and appropriate treatment. In dogs, the clinical syndrome, which is evident almost immediately, manifests in profuse ptyalism along with gastrointestinal, respiratory, and neurologic signs. Severe cardiac arrhythmias develop less frequently. This review will cover the history, toxicology, and clinical syndrome of Rhinella marina intoxication, and will discuss the recommended therapies for stabilization. PMID:27259028

  18. Brugada Syndrome and Early Repolarisation: Distinct Clinical Entities or Different Phenotypes of the Same Genetic Disease?

    PubMed Central

    Caputo, Maria Luce; Regoli, François; Moccetti, Tiziano; Brugada, Pedro; Auricchio, Angelo

    2016-01-01

    Brugada and early repolarisation (ER) syndromes are currently considered two distinct inherited electrical disorders with overlapping clinical and electrocardiographic features. A considerable number of patients diagnosed with ER syndrome have a genetic mutation related to Brugada syndrome (BrS). Due to the high variable phenotypic manifestation, patients with BrS may present with inferolateral repolarisation abnormalities only, resembling the ER pattern. Moreover, the complex genotype–phenotype interaction in BrS can lead to the occurrence of mixed phenotypes with ER syndrome. The first part of this review focuses on specific clinical and electrocardiographic features of BrS and ER syndrome, highlighting the similarity shared by the two primary electrical disorders. The genetic background, with emphasis on the complexity of genotype–phenotype interaction, is explored in the second part of this review.

  19. A comparative study of fluorescence in malignant melanoma and nevocellular nevus using a fluorescence microscope and formalin-fixed specimens.

    PubMed

    Shukuwa, T; Nonaka, S; Yoshida, H

    1990-09-01

    Fluorescence in malignant melanoma cells was investigated. The specimens from 18 cases of malignant melanoma and 26 cases of nevocellular nevus, which were fixed with formalin and embedded in paraffin wax, were studied by the fluorescence microscopic method. On the fluorescence microscope, the malignant melanoma cells emitted intense fluorescence from the cytoplasm. The nevus cells with large amounts of melanin granules showed moderate fluorescence. The tumor cells of melanoma in situ and nevus cells with few melanin granules emitted little fluorescence. Not only malignant melanoma cells but also nevus cells in the formalin fixed specimens had various degrees of fluorescence. Many cases of malignant melanoma emitted intense fluorescence, but this was rarely found in nevocellular nevus. This method is also useful in differentiating melanoma from nevocellular nevus. PMID:2277143

  20. The Importance of Collagen Tissue in Papular Elastorrhexis, Eruptive Collagenoma, and Nevus Anelasticus

    PubMed Central

    Sung, Nam Hee

    2016-01-01

    Background Papular elastorrhexis (PE), eruptive collagenoma (EC), and nevus anelasticus (NA) are described as multiple small papules with decrease, fragmentation, or lack of dermal elastic fibers. These diseases are suggested to be the same entity. The change of collagen fibers in the conditions has not been addressed to date. Objective We compared the clinical features of the 3 diseases and investigated changes in the collagen fibers involved. Methods Twenty-four cases of PE, 12 cases of EC, and 2 cases of NA found in PubMed and the Korean database were reviewed. Changes in dermal collagen fibers in 10 cases with histological figures were investigated. Results There were significant similarities between the 3 entities in terms of their clinical features. Four patients with PE and 2 with EC with fine, dense collagen fibers were women who had multiple white to hypopigmented, slightly indurated to firm, millimeter-size papules on the trunk and/or extremities that progressed gradually after developing in the patients' first to third decades. Conclusion The 3 conditions are the same clinical entity in our opinion; such cases with fine, dense collagen manifest typical features. PMID:27081269

  1. Atypical Hemolytic-Uremic Syndrome: A Clinical Review.

    PubMed

    Nayer, Ali; Asif, Arif

    2016-01-01

    Atypical hemolytic-uremic syndrome (HUS) is a rare life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and ischemic injury to organs, especially the kidneys. Microvascular injury and thrombosis are the dominant histologic findings. Complement activation through the alternative pathway plays a critical role in the pathogenesis of atypical HUS. Genetic abnormalities involving complement regulatory proteins and complement components form the molecular basis for complement activation. Endothelial cell dysfunction, probably because of the effects of complement activation, is an intermediate stage in the pathophysiologic cascade. Atypical HUS has a grave prognosis. Although mortality approaches 25% during the acute phase, end-stage renal disease develops in nearly half of patients within a year. Atypical HUS has a high recurrence rate after renal transplantation, and recurrent disease often leads to graft loss. Plasma therapy in the form of plasma exchange or infusion has remained the standard treatment for atypical HUS. However, many patients do not respond to plasma therapy and some require prolonged treatment. Approved by the Food and Drug Administration in the treatment of atypical HUS, eculizumab is a humanized monoclonal antibody that blocks cleavage of complement C5 into biologically active mediators of inflammation and cytolysis. Although case reports have shown the efficacy of eculizumab, randomized clinical trials are lacking. Therapeutic strategies targeting endothelial cells have demonstrated promising results in experimental settings. Therefore, inhibitors of angiotensin-converting enzyme, HMG-CoA reductase, and xanthine oxidase as well as antioxidants, such as ascorbic acid, may have salutary effects in patients with atypical HUS. PMID:24681522

  2. Molecular and clinical study of 61 Angelman syndrome patients

    SciTech Connect

    Saitoh, Shinji; Harada, Naoki; Jinno, Yoshihiro; Niikawa, Norio; Imaizumi, Kiyoshi; Kuroki, Yoshikazu; Fukushima; Yoshimitsu; Sugimoto, Tateo; Renedo, Monica

    1994-08-15

    We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion, which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. The parental origin of deletion, both in sporadic and familial cases, was exclusively maternal and consistent with a genomic imprinting hypothesis. Among sporadic and familial cases without deletion, no uniparental disomy was found and most of them were shown to inherit chromosomes 15 from both parents (biparental inheritance). A discrepancy between cytogenetic and molecular deletion was observed in 14 (26%) of 53 patients in whom cytogenetic analysis could be performed. Ten (43%) of 23 patients with a normal karyotype showed a molecular deletion, and 4 (13%) of 30 patients with cytogenetic deletion, del(15) (q11q13), showed no molecular deletion. Most clinical manifestations, including neurological signs and facial characteristics, were not distinct in each group except for hypopigmentation of skin or hair. Familial cases with submicroscopic deletion were not associated with hypopigmentation. These findings suggested that a gene for hypopigmentation is located outside the critical region of AS and is not imprinted. 37 refs., 2 figs., 4 tabs.

  3. Oral Contraceptives and Multiple Sclerosis/Clinically Isolated Syndrome Susceptibility

    PubMed Central

    Hellwig, Kerstin; Chen, Lie H.; Stancyzk, Frank Z.; Langer-Gould, Annette M.

    2016-01-01

    Background The incidence of multiple sclerosis (MS) is rising in women. Objective To determine whether the use of combined oral contraceptives (COCs) are associated with MS risk and whether this varies by progestin content. Methods We conducted a nested case-control study of females ages 14–48 years with incident MS or clinically isolated syndrome (CIS) 2008–2011 from the membership of Kaiser Permanente Southern California. Controls were matched on age, race/ethnicity and membership characteristics. COC use up to ten years prior to symptom onset was obtained from the complete electronic health record. Results We identified 400 women with incident MS/CIS and 3904 matched controls. Forty- percent of cases and 32% of controls had used COCs prior to symptom onset. The use of COCs was associated with a slightly increased risk of MS/CIS (adjusted OR = 1.52, 95%CI = 1.21–1.91; p<0.001). This risk did not vary by duration of COC use. The association varied by progestin content being more pronounced for levenorgestrol (adjusted OR = 1.75, 95%CI = 1.29–2.37; p<0.001) than norethindrone (adjusted OR = 1.57, 95%CI = 1.16–2.12; p = 0.003) and absent for the newest progestin, drospirenone (p = 0.95). Conclusions Our findings should be interpreted cautiously. While the use of some combination oral contraceptives may contribute to the rising incidence of MS in women, an unmeasured confounder associated with the modern woman’s lifestyle is a more likely explanation for this weak association. PMID:26950301

  4. Guillain-Barré syndrome: clinical profile and management

    PubMed Central

    Sudulagunta, Sreenivasa Rao; Sodalagunta, Mahesh Babu; Sepehrar, Mona; Khorram, Hadi; Bangalore Raja, Shiva Kumar; Kothandapani, Shyamala; Noroozpour, Zahra; Aheta Sham, Mohammed; Prasad, Nagendra; Sunny, Sony Parethu; Mohammed, Munawar Dhanish; Gangadharappa, Rekha; Nidsale Sudarshan, Ranjitha

    2015-01-01

    Introduction: Guillain-Barré syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. Etiology of GBS is incompletely understood, prognosis is usually good with early detection and prompt treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and electrodiagnostic features of patients with GBS and mode of management, complications and prognostic factors. Methods: Data of 1,166 patients admitted with GBS or presented to outpatient department (previous medical records) with GBS between January 2003 and January 2014 were analyzed. Results: No difference in genders noted. Around 35% of patients are above 50 years of age. Poor control of diabetes with mean HbA1c of 8.1 ± 2.11 is found on analysis. Seasonal occurrence in GBS is prominent in winter 484 (41.50%) and mechanically ventilated were 449 (38.50%) patients. 48 (4.11%) deaths were attributed to GBS. Neurological analysis revealed cranial nerve involvement in 407 (34.90%) patients, facial palsy in 401 (34.39%) and ataxia in 88 (7.54%) patients. Most patients in plasma exchange group belonged to the lower socio-economic status. Mean cerebrospinal fluid (CSF) protein levels was (n=962) 113.8 ± 11.8 mg/dl. Conduction block determined indirectly by absent H-reflex was noted in 891 (90.64%) patients. No difference in complications and outcome is found in treatment regimens of intravenous immunoglobulin (IVIG) and plasma exchange. Conclusion: Seasonal occurrence predominantly in winter is noted. Peak flow test may be a predictor of assessing requirement of mechanical ventilation and prognosis. Conduction block is the major abnormality noted in electrophysiological studies and proximal nerve segment assessing with Erb’s point stimulation has high predictive value. IVIG treatment is more expensive but is associated with less duration of hospital stay. PMID:26421004

  5. Unusual Clinical Presentations of Cervical or Lumbar Dorsal Ramus Syndrome

    PubMed Central

    Kim, Shin Jae; Ko, Myeong Jin; Lee, Young Seok; Kim, Young Baeg; Chung, Chan

    2014-01-01

    Objective Patients with cervical (CDRS) or lumbar dorsal ramus syndrome (LDRS) are characterized by neck or low back pain with referred pain to upper or lower extremities. However, we experienced some CDRS or LDRS patients with unusual motor or bladder symptoms. We analyzed and reviewed literatures on the unusual symptoms identified in patients with CDRS or LDRS. Methods This study included patients with unusual symptoms and no disorders of spine and central nervous system, a total of 206 CDRS/LDRS patients over the past 3 years. We diagnosed by using double diagnostic blocks for medial branches of dorsal rami of cervical or lumbar spine with 1% lidocaine or 0.5% bupivacaine for each block with an interval of more than 1 week between the blocks. Greater than 80% reduction of the symptoms, including unusual symptoms, was considered as a positive response. The patients with a positive response were treated with radiofrequencyneurotomy. Results The number of patients diagnosed with CDRS and LDRS was 86 and 120, respectively. Nine patients (10.5%) in the CDRS group had unusual symptoms, including 4 patients with motor weakness of the arm, 3 patients with tremors, and rotatory torticollis in 2 patients. Ten patients (8.3%) in the LDRS group showed unusual symptoms, including 7 patients with motor weakness of leg, 2 patients with leg tremor, and urinary incontinence in 1 patient. All the unusual symptoms combined with CDRS or LDRS were resolved after treatment. Conclusion It seems that the clinical presentationssuch as motor weakness, tremor, urinary incontinence without any other etiologic origin need to be checked for unusual symptoms of CDRS or LDRS. PMID:25110484

  6. Clinical and laboratory investigation of oral allergy syndrome to grape.

    PubMed

    Falak, Reza; Sankian, Mojtaba; Tehrani, Mohsen; Jabbari Azad, Farahzad; Abolhasani, Ahmad; Varasteh, Abdolreza

    2012-06-01

    Oral allergy syndrome (OAS) is occasionally observed following consumption of raw fruits in allergic adults. Since this phenomenon was commonly reported in Khorasan province of Iran; we intended to check if common diagnostic tests could be applied for differential diagnosis of OAS to grapes.IgE reactivity of 84 patients with OAS to grape and 34 patients with OAS to other fruits were analyzed by in vivo and in vitro methods, and the results were compared with those of controls. The patients underwent skin prick test (SPT) with common allergic pollen extracts as well as grape extract. The specific IgE level to grape proteins was determined by an indirect ELISA. The correlation of SPT results with ELISA and western blotting patterns was checked by statistical methods. The results showed a significant correlation of grape SPT diameters with grape specific IgE levels. Furthermore, a significant association of grape SPT results with IgE immunoreactivity of a 10 kDa grape protein, probably lipid transfer protein (LTP) was prominent. Immunoreactivity of other proteins was linked with mild clinical symptoms. The study showed a significant correlation of grape SPT results with grape total extract, as well as its 10 kDa component's IgE reactivity. The results suggested that OAS to grape should not be considered as a main criterion in diagnosis of grape allergy and a combination of grape SPT results with evaluation of IgE reactivity to grape 10 kDa allergen should be considered to achieve a more reliable grape allergy diagnosis. PMID:22761188

  7. Laboratory and clinical risk assessment to treat myelodysplatic syndromes.

    PubMed

    Gidaro, Antonio; Deliliers, Giorgio Lambertenghi; Gallipoli, Paolo; Arquati, Massimo; Wu, Maddalena Alessandra; Castelli, Roberto

    2016-09-01

    Myelodisplastic syndromes (MDS) are heterogeneous myeloid disorders characterized by peripheral cytopenias and increased risk of transformation into acute myelogenous leukemia (AML). MDS are generally suspected in the presence of cytopenia on routine analysis and the evaluation of bone marrow cells morphology and cellularity leads to correct diagnosis of MDS. The incidence of MDS is approximately five cases per 100,000 people per year in the general population, but it increases up to 50 cases per 100,000 people per year after 60 years of age. Typically MDS affect the elderly, with a median age at diagnosis of 65-70 years. Here the current therapeutic approaches for MDS are evaluated by searching the PubMed database. Establishing the prognosis in MDS patients is a key element of therapy. In fact an accurate estimate of prognosis drives decisions about the choice and timing of the therapeutic options. Therapy is selected based on prognostic risk assessment, cytogenetic pattern, transfusion needs and biological characteristics of the disease, comorbidities and clinical condition of the patients. In lower-risk patients the goals of therapy are different from those in higher-risk patients. In lower-risk patients, the aim of therapy is to reduce transfusion needs and transformation to higher risk disease or AML, improving the quality of life and survival. In higher-risk patients, the main goal of therapy is to prolong survival and to reduce the risk of AML transformation. Current therapies include growth factor support, lenalidomide, immunomodulatory and hypomethylating agents, intensive chemotherapy, and allogenic stem cell transplantation. The challenge when dealing with MDS patients is to select the optimal treatment by balancing efficacy and toxicity. PMID:26812791

  8. [Clinical syndrome of convulsive cough of adenoviral etiology in a children's collective].

    PubMed

    Grobnicu, M; Andreescu, V; Caffé, I; Măgureanu, E; Marion, M; Ivan, I; Botez, D; Cuteanu, I; Barbu, I

    1976-01-01

    Bacteriological, viral and serological investigators were carried out in a community with 100 prescholar children (Kindergarden), 34 of whom presented a clinical syndrome of whooping cough, in order to establish the bacteriologic or viral etiology of the syndrome. The etiologic role of organisms of the Bordetella, B. pertussis and B. parapertussis was invalidated by the bacteriologic and serological tests. Viral and serological tests, performed to demonstrate the participation of viral agents in the causation of this clinical syndrome, established an adenoviral diagnosis in 13 (43.3%) of the 30 children. Adenovirus type 6 was isolated and there was a significant increase in the titers of antibodies to adenoviruses. PMID:184515

  9. Contributions of a specialty clinic for children and adolescents with Down syndrome.

    PubMed

    Skotko, Brian G; Davidson, Emily Jean; Weintraub, Gil S

    2013-03-01

    We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with Down syndrome. For this quality improvement study, we performed a retrospective chart review of 105 new patients with Down syndrome, ages 3 and older, seen during the inaugural year of our specialty clinic. We asked how many of our patients were already up-to-date on the healthcare screenings recommended for people with Down syndrome. We further analyzed what tests we ordered, which referrals we suggested, and, ultimately, what new diagnoses of co-occurring medical conditions were made. Only 9.8% of our patients were current on all of the recommended Down syndrome healthcare screenings. Parents came to clinic with a variety of concerns, and after laboratory tests, radiologic studies, and subspecialty referrals, we made many new diagnoses of gastrointestinal conditions (e.g., constipation and celiac disease), seasonal allergies, dermatologic conditions (e.g., xerosis), behavioral diagnoses (e.g., autism spectrum disorder and disruptive behavior not otherwise specified), and clarifications of neurologic conditions. A Down syndrome specialty clinic can identify and address many healthcare needs of children and adolescents with Down syndrome beyond that which is provided in primary care settings. PMID:23401090

  10. Severe acute respiratory syndrome: clinical and laboratory manifestations.

    PubMed

    Lam, Christopher W K; Chan, Michael H M; Wong, Chun K

    2004-05-01

    Severe acute respiratory syndrome (SARS) is a recently emerged infectious disease with significant morbidity and mortality. An epidemic in 2003 affected 8,098 patients in 29 countries with 774 deaths. The aetiological agent is a new coronavirus spread by droplet transmission. Clinical and general laboratory manifestations included fever, chills, rigor, myalgia, malaise, diarrhoea, cough, dyspnoea, pneumonia, lymphopenia, neutrophilia, thrombocytopenia, and elevated serum lactate dehydrogenase (LD), alanine aminotransferase (ALT) and creatine kinase (CK) activities. Treatment has been empirical; initial potent antibiotic cover, followed by simultaneous ribavirin and corticosteroids, with or without pulse high-dose methylprednisolone, have been used. The postulated disease progression comprises (1) active viral infection, (2) hyperactive immune response, and (3) recovery or pulmonary destruction and death. We investigated serum LD isoenzymes and blood lymphocyte subsets of SARS patients, and found LD1 activity as the best biochemical prognostic indicator for death, while CD3+, CD4+, CD8+ and natural killer cell counts were promising predictors for intensive care unit (ICU) admission. Plasma cytokine and chemokine profiles showed markedly elevated Th1 cytokine interferon (IFN)-gamma, inflammatory cytokines interleukin (IL)-1beta, IL-6 and IL-12, neutrophil chemokine IL-8, monocyte chemoattractant protein-1 (MCP-1), and Th1 chemokine IFN-gamma-inducible protein-10 (IP-10) for at least two weeks after disease onset, but there was no significant elevation of inflammatory cytokine tumor necrosis factor (TNF)-alpha and anti-inflammatory cytokine IL-10. Corticosteroid reduced IL-8, MCP-1 and IP-10 concentrations from 5-8 days after treatment. Measurement of biochemical markers of bone metabolism demonstrated significant but transient increase in bone resorption from Day 28-44 after onset of fever, when pulse steroid was most frequently given. With tapering down of steroid

  11. 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1–5

    PubMed Central

    Benn, Diana E; Robinson, Bruce G; Clifton-Bligh, Roderick J

    2015-01-01

    The paraganglioma (PGL) syndromes types 1–5 are autosomal dominant disorders characterized by familial predisposition to PGLs, phaeochromocytomas (PCs), renal cell cancers, gastrointestinal stromal tumours and, rarely, pituitary adenomas. Each syndrome is associated with mutation in a gene encoding a particular subunit (or assembly factor) of succinate dehydrogenase (SDHx). The clinical manifestations of these syndromes are protean: patients may present with features of catecholamine excess (including the classic triad of headache, sweating and palpitations), or with symptoms from local tumour mass, or increasingly as an incidental finding on imaging performed for some other purpose. As genetic testing for these syndromes becomes more widespread, presymptomatic diagnosis is also possible, although penetrance of disease in these syndromes is highly variable and tumour development does not clearly follow a predetermined pattern. PGL1 syndrome (SDHD) and PGL2 syndrome (SDHAF2) are notable for high frequency of multifocal tumour development and for parent-of-origin inheritance: disease is almost only ever manifest in subjects inheriting the defective allele from their father. PGL4 syndrome (SDHB) is notable for an increased risk of malignant PGL or PC. PGL3 syndrome (SDHC) and PGL5 syndrome (SDHA) are less common and appear to be associated with lower penetrance of tumour development. Although these syndromes are all associated with SDH deficiency, few genotype–phenotype relationships have yet been established, and indeed it is remarkable that such divergent phenotypes can arise from disruption of a common molecular pathway. This article reviews the clinical presentations of these syndromes, including their component tumours and underlying genetic basis. PMID:26273102

  12. Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.

    PubMed

    Tekin, Neslihan; Durmuş-Aydoğdu, Sultan; Dinleyici, Ener Cağri; Bör, Ozcan; Bildirici, Kismet; Akşit, Arif

    2005-01-01

    We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature. PMID:15884633

  13. Fragile X syndrome. Molecular and clinical insights and treatment issues.

    PubMed Central

    Hagerman, R J

    1997-01-01

    The fragile X syndrome is the most common inherited cause of mental retardation that is known. The prevalence of mental retardation from this syndrome ranges from 1 in 1,250 to 1 in 4,000 in the general population, although the prevalence of female carriers has been reported to be as high as 1 in 259. The discovery of the FMR1 gene mutation in 1991 has simplified diagnosis, enhanced our understanding of the spectrum of involvement in the fragile X syndrome, and stimulated research regarding the normal function of the FMR1 protein in brain development. Advances have also occurred in the treatment of the fragile X syndrome, and psychopharmacologic and educational interventions are reviewed here. Images Figure 1. PMID:9109330

  14. Familial neuroendocrine tumor syndromes: from genetics to clinical practice.

    PubMed

    Sakurai, Akihiro; Katai, Miyuki; Hashizume, Kiyoshi; Fukushima, Yoshimitsu

    2006-01-01

    Thanks to recent developments in molecular biology and cancer genetics, genetic testing has become widely available and useful in several kinds of familial tumor syndrome. However, the impact of genetic testing on medical management is not always straightforward. Clinicians have to consider the psychological impact and ethical complexities of communicating hereditary cancer risk information to families. This review notes some points on genetic counseling before and after genetic testing for familial neuroendocrine tumor syndromes. PMID:17001463

  15. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    PubMed

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. PMID:26095523

  16. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    PubMed Central

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported. PMID:26622156

  17. Usefulness of confocal microscopy in distinguishing between basal cell carcinoma and intradermal melanocytic nevus on the face.

    PubMed

    Gamo, R; Floristan, U; Pampín, A; Caro, D; Pinedo, F; López-Estebaranz, J L

    2015-10-01

    The clinical distinction between basal cell carcinoma (BCC) and intradermal melanocytic nevus lesions on the face can be difficult, particularly in young patients or patients with multiple nevi. Dermoscopy is a useful tool for analyzing characteristic dermoscopic features of BCC, such as cartwheel structures, maple leaf-like areas, blue-gray nests and dots, and ulceration. It also reveals arborizing telangiectatic vessels and prominent curved vessels, which are typical of BCC, and comma vessels, which are typical of intradermal melanocytic nevi. It is, however, not always easy to distinguish between these 2 conditions, even when dermoscopy is used. We describe 2 facial lesions that posed a clinical and dermoscopic challenge in two 38-year-old patients; confocal microscopy showed separation between tumor nests and stroma and polarized nuclei, which are confocal microscopy features of basal cell carcinoma. PMID:26093995

  18. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

    PubMed

    Castori, Marco

    2015-12-01

    Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues. It is usually ascertained due to abnormal skin texture, scarring complications, vascular fragility, or chronic symptoms, such as fatigue and musculoskeletal pain. Sometimes, Ehlers-Danlos syndrome remains undetected until the patient, usually in the pediatric age, shows extensive or severe mucocutaneous injuries after only minor traumas. In this scenario, the misdiagnosis of Ehlers-Danlos syndrome with child abuse is a possibility, as occasionally reported in the literature. Recently, more attention was posed by lay people between the possible association of Ehlers-Danlos syndrome and bone fragility. Literature and personal experience show a strong association between Ehlers-Danlos syndrome, generalized joint hypermobility and reduced bone mass density in older children and adults, especially fertile women. The existence of a true increased risk of fracture in Ehlers-Danlos syndrome is still a matter of debate in children and adults with little and conflicting evidence. In case of suspected child abuse, Ehlers-Danlos syndrome is certainly on the differential for bruising, especially in EDS types with marked cutaneous and capillary involvement. In suspected child abuse cases, careful examination of the index case and her/his extended family is routine, as well as exclusion of other disorders such as osteogenesis imperfecta. The hypothesis of Ehlers-Danlos syndrome as an alternative explanation for infantile fractures remains speculative. PMID:26452443

  19. Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.

    PubMed

    Stavropoulos, Dimitrios; Tarnow, Peter; Mohlin, Bengt; Kahnberg, Karl-Erik; Hagberg, Catharina

    2012-01-01

    Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically. PMID:22611902

  20. Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm

    PubMed Central

    Ji, Zhiwei; Wang, Bing

    2014-01-01

    Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

  1. Desmoplastic nevus of chronically sun-damaged skin: an entity to be distinguished from desmoplastic melanoma.

    PubMed

    Sidiropoulos, Michael; Sholl, Lauren Meldi; Obregon, Roxana; Guitart, Joan; Gerami, Pedram

    2014-08-01

    Desmoplastic (sclerotic) nevus (DSN) can often be difficult to differentiate from desmoplastic melanoma (DM). This can be especially difficult when DSNs occur in a background of heavy solar elastosis. We have observed numerous examples of DSNs occurring in chronically sun-damaged (CSD) skin. In a subset of these cases, we have observed notable pleomorphism and nuclear atypia raising concern for the possibility of DM. In this study, we evaluated the clinical, histopathologic, and immunohistochemical findings in 23 cases of DSN occurring in CSD skin and compared them with 10 cases of DM. DSN on CSD skin is seen in adults (mean, 53.2 years) with a female predominance (70%) and upper (57%) and lower (17%) extremity anatomic locations. Most DSNs present as small flesh-colored macules or papules. Typical histologic features include symmetry, limited junctional growth, presence of a lentiginous component often with focal and limited pagetoid spread (extension across only a few rete ridges), and lack of deep extension. DSN and DM had a statistically significant difference in immunohistochemical staining for Melan-A and p75. Melan-A was positive in 18 of 20 DSNs and only 2 out of 10 DMs, whereas p75 was positive in all DMs (10/10) and was weakly positive in 11 of 20 DSN cases. We believe that our study offers some useful clinical, histologic, and immunohistochemical clues to help differentiate DSNs on CSD skin from DMs. PMID:25051041

  2. Intraoral Spitz nevus: case report and literature review.

    PubMed

    Li, Chia-Cheng; Harrist, Terence J; Noonan, Vikki L; Woo, Sook-Bin

    2014-04-01

    Spitz nevi account for approximately 1% of all melanocytic nevi of the skin in children. Although Spitz nevi often develop in the skin of the head and neck, intraoral Spitz nevi are rare. These nevi contain epithelioid and spindle cells and exhibit cytologic and architectural atypia when compared with routine melanocytic nevi, and may be mistaken for atypical Spitz tumor, Spitzoid melanoma, or conventional melanoma. Here, we report a Spitz nevus on the buccal mucosa of an 11-year-old boy. The tumor was composed of a proliferation of mostly epithelioid melanocytes with a smaller spindle cell component. The melanocytes were positive for S100, MART-1, and p16 proteins, with HMB-45-positive cells located only in the basal cell layer and superficial lamina propria. Less than 5% of the nuclei were positive for MIB-1, and there were no mitotic figures. We review the literature on 7 previously reported cases of Spitz nevi. PMID:24139994

  3. Spontaneous Involution of Congenital Melanocytic Nevus With Halo Phenomenon

    PubMed Central

    Lee, Noo Ri; Chung, Hee-Chul; Hong, Hannah; Lee, Jin Wook

    2015-01-01

    Abstract: Congenital melanocytic nevus (CMN) is a neural crest-derived hamartoma, which appear at or soon after birth. CMN has a dynamic course and may show variable changes over time, including spontaneous involution. Spontaneous involution of CMN is a rare phenomenon and is often reported in association with halo phenomenon or vitiligo. The mechanism of halo phenomenon is yet to be investigated but is suggested to be a destruction of melanocytes by immune responses of cytotoxic T cells or IgM autoantibodies. Here, the authors report an interesting case of spontaneously regressed medium-sized CMN with halo phenomenon and without vitiligo, which provides evidence that cytotoxic T cells account for the halo formation and pigmentary regression of CMN. PMID:26588343

  4. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease

    PubMed Central

    Lean, Mike EJ

    2016-01-01

    The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30–40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5–10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35–40 kg/m2 with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists. PMID:26998259

  5. A clinical perspective of obesity, metabolic syndrome and cardiovascular disease.

    PubMed

    Han, Thang S; Lean, Mike Ej

    2016-01-01

    The metabolic syndrome is a condition characterized by a special constellation of reversible major risk factors for cardiovascular disease and type 2 diabetes. The main, diagnostic, components are reduced HDL-cholesterol, raised triglycerides, blood pressure and fasting plasma glucose, all of which are related to weight gain, specifically intra-abdominal/ectopic fat accumulation and a large waist circumference. Using internationally adopted arbitrary cut-off values for waist circumference, having metabolic syndrome doubles the risk of cardiovascular disease, but offers an effective treatment approach through weight management. Metabolic syndrome now affects 30-40% of people by age 65, driven mainly by adult weight gain, and by a genetic or epigenetic predisposition to intra-abdominal/ectopic fat accumulation related to poor intra-uterine growth. Metabolic syndrome is also promoted by a lack of subcutaneous adipose tissue, low skeletal muscle mass and anti-retroviral drugs. Reducing weight by 5-10%, by diet and exercise, with or without, anti-obesity drugs, substantially lowers all metabolic syndrome components, and risk of type 2 diabetes and cardiovascular disease. Other cardiovascular disease risk factors such as smoking should be corrected as a priority. Anti-diabetic agents which improve insulin resistance and reduce blood pressure, lipids and weight should be preferred for diabetic patients with metabolic syndrome. Bariatric surgery offers an alternative treatment for those with BMI ≥ 40 or 35-40 kg/m(2) with other significant co-morbidity. The prevalence of the metabolic syndrome and cardiovascular disease is expected to rise along with the global obesity epidemic: greater emphasis should be given to effective early weight-management to reduce risk in pre-symptomatic individuals with large waists. PMID:26998259

  6. Sneddon syndrome: rare disease or under diagnosed clinical entity? Review of the literature related to a clinical case.

    PubMed

    Orac, Amalia; Artenie, Anca; Toader, Mihaela Paula; Harnagea, Raluca; Dinu-Mitrofan, Diana; Grigorovici, Mirela; Ungureanu, G

    2014-01-01

    Sneddon syndrome is defined by the association of livedo racemosa and recurrent cerebrovascular ischemic lesions. The annual incidence is 4/1,000,000. This syndrome particularly affects young women, some reports suggesting a family predisposition. It is a chronic, progressive, arterio-occlusive disease of unknown etiology that involves small and medium-sized arteries. It is usually associated with antiphospholipid antibodies. We report the case of a female patient with Sneddon syndrome with significant family history, personal history of stroke, epilepsy, migraine, cardiovascular involvement, three miscarriages, cognitive decline, noncompliant to therapy, in the absence of antiphospholipid antibodies. This paper aims to analyze the main characteristic features and management of Sneddon syndrome by conducting a literature review related to a clinical case. PMID:25341280

  7. A Clinical Pharmacist's Role in Screening for Metabolic Syndrome in a Rural Pediatric Ambulatory Clinic

    ERIC Educational Resources Information Center

    Benavides, Sandra; Kohler, Lisa A.; Souffrant, Garry

    2011-01-01

    Purpose: The prevalence of metabolic syndrome in the pediatric population is increasing. Barriers, including the lack of consensus of a definition for metabolic syndrome and time constraints for the pediatrician, may limit the identification and diagnosis of metabolic syndrome in children. The objective of this pilot study was to evaluate the role…

  8. Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

    PubMed Central

    Briceño Balcazar, Ignacio; Martinez Lozano, Julio; Collins, Andrew; Uricoechea Patiño, Daniel Alfredo

    2015-01-01

    Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out. PMID:26848196

  9. "Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances

    PubMed Central

    2011-01-01

    The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views. PMID:22182677

  10. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    ERIC Educational Resources Information Center

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  11. History and clinical significance of early repolarization syndrome.

    PubMed

    Mahida, Saagar; Derval, Nicolas; Sacher, Frederic; Berte, Benjamin; Yamashita, Seigo; Hooks, Darren A; Denis, Arnaud; Lim, Han; Amraoui, Sana; Aljefairi, Nora; Hocini, Meleze; Jais, Pierre; Haissaguerre, Michel

    2015-01-01

    The early repolarization (ER) pattern has historically been regarded as a benign ECG variant. However, in recent years this view has been challenged based on multiple reports linking the ER pattern with an increased risk of sudden cardiac death. The mechanistic basis of ventricular arrhythmogenesis in ER syndrome is presently incompletely understood. Furthermore, strategies for risk stratification and therapy for ER syndrome remain suboptimal. The recent emergence of novel mapping techniques for cardiac arrhythmia has ushered a new era of research into the mechanistic basis of ER syndrome. This review provides an overview of current evidence relating to ER and risk of ventricular arrhythmias and discusses potential future areas of research to elucidate the mechanisms of ventricular arrhythmogenesis. PMID:25257090

  12. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.

    PubMed

    Izumi, Kosuke; Hayashi, Daisuke; Grochowski, Christopher M; Kubota, Noriko; Nishi, Eriko; Arakawa, Michiko; Hiroma, Takehiko; Hatata, Tomoko; Ogiso, Yoshifumi; Nakamura, Tomohiko; Falsey, Alexandra M; Hidaka, Eiko; Spinner, Nancy B

    2016-02-01

    Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in JAG1 or NOTCH2 and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in Alagille syndrome. Therefore, monozygotic twins with Alagille syndrome provide a unique opportunity to evaluate potential phenotypic modifiers such as environmental factors or stochastic effects of gene expression. In this report, we describe an Alagille syndrome monozygotic twin pair with discordant placental and clinical findings. We propose that environmental factors such as prenatal hypoxia may have played a role in determining the phenotypic severity. PMID:26463753

  13. SSRI-induced apathy syndrome: a clinical review.

    PubMed

    Barnhart, W Jason; Makela, Eugene H; Latocha, Melissa J

    2004-05-01

    The authors review the literature pertaining to selective serotonin reuptake inhibitor (SSRI)-induced apathy syndrome. A literature search of Medline and International Pharmaceutical Abstracts from 1970 to the present was performed for relevant articles. Twelve relevant case reports and one open-label treatment trial were identified. An amotivational, or apathy, syndrome has been reported in a number of patients receiving SSRI treatment over the last decade. This adverse effect has been noted to be dose-dependent and reversible, but is often unrecognized. This phenomenon has caused significant negative consequences for adults as well as social and academic difficulties in adolescents. PMID:15330228

  14. Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.

    PubMed

    Cabrera, Sergio; Morel, Chantal; Tartaglia, Maria Carmela

    2016-05-01

    Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS. There is tremendous phenotypic heterogeneity in patients with CFCS and so confirmation of diagnosis requires genetic testing. Neurologic and/or cognitive symptoms are present in almost all CFCS individuals. Little is known about cognitive function in older patients with CFCS. In this report, we present the cognitive, neuropsychiatric, and imaging findings of a patient diagnosed with CFCS who after having remained stable developed progressive cognitive/behavioral and motor decline. © 2016 Wiley Periodicals, Inc. PMID:26842671

  15. Increased PK11195-PET binding in normal-appearing white matter in clinically isolated syndrome

    PubMed Central

    Politis, Marios; Su, Paul; Turkheimer, Federico E.; Malik, Omar; Keihaninejad, Shiva; Wu, Kit; Waldman, Adam; Reynolds, Richard; Nicholas, Richard; Piccini, Paola

    2015-01-01

    The most accurate predictor of the subsequent development of multiple sclerosis in clinically isolated syndrome is the presence of lesions at magnetic resonance imaging. We used in vivo positron emission tomography with 11C-(R)-PK11195, a biomarker of activated microglia, to investigate the normal-appearing white matter and grey matter of subjects with clinically isolated syndrome to explore its role in the development of multiple sclerosis. Eighteen clinically isolated syndrome and eight healthy control subjects were recruited. Baseline assessment included: history, neurological examination, expanded disability status scale, magnetic resonance imaging and PK11195-positron emission tomography scans. All assessments except the PK11195-positron emission tomography scan were repeated over 2 years. SUPERPK methodology was used to measure the binding potential relative to the non-specific volume, BPND. We show a global increase of normal-appearing white matter PK11195 BPND in clinically isolated syndrome subjects compared with healthy controls (P = 0.014). Clinically isolated syndrome subjects with T2 magnetic resonance imaging lesions had higher PK11195 BPND in normal-appearing white matter (P = 0.009) and their normal-appearing white matter PK11195 BPND correlated with the Expanded Disability Status Scale (P = 0.007; r = 0.672). At 2 years those who developed dissemination in space or multiple sclerosis, had higher PK11195 BPND in normal-appearing white matter at baseline (P = 0.007 and P = 0.048, respectively). Central grey matter PK11195 BPND was increased in subjects with clinically isolated syndrome compared to healthy controls but no difference was found in cortical grey matter PK11195 BPND. Microglial activation in clinically isolated syndrome normal-appearing white matter is diffusely increased compared with healthy control subjects and is further increased in those who have magnetic resonance imaging lesions. Furthermore microglial activation in clinically

  16. Increased PK11195-PET binding in normal-appearing white matter in clinically isolated syndrome.

    PubMed

    Giannetti, Paolo; Politis, Marios; Su, Paul; Turkheimer, Federico E; Malik, Omar; Keihaninejad, Shiva; Wu, Kit; Waldman, Adam; Reynolds, Richard; Nicholas, Richard; Piccini, Paola

    2015-01-01

    The most accurate predictor of the subsequent development of multiple sclerosis in clinically isolated syndrome is the presence of lesions at magnetic resonance imaging. We used in vivo positron emission tomography with (11)C-(R)-PK11195, a biomarker of activated microglia, to investigate the normal-appearing white matter and grey matter of subjects with clinically isolated syndrome to explore its role in the development of multiple sclerosis. Eighteen clinically isolated syndrome and eight healthy control subjects were recruited. Baseline assessment included: history, neurological examination, expanded disability status scale, magnetic resonance imaging and PK11195-positron emission tomography scans. All assessments except the PK11195-positron emission tomography scan were repeated over 2 years. SUPERPK methodology was used to measure the binding potential relative to the non-specific volume, BPND. We show a global increase of normal-appearing white matter PK11195 BPND in clinically isolated syndrome subjects compared with healthy controls (P = 0.014). Clinically isolated syndrome subjects with T2 magnetic resonance imaging lesions had higher PK11195 BPND in normal-appearing white matter (P = 0.009) and their normal-appearing white matter PK11195 BPND correlated with the Expanded Disability Status Scale (P = 0.007; r = 0.672). At 2 years those who developed dissemination in space or multiple sclerosis, had higher PK11195 BPND in normal-appearing white matter at baseline (P = 0.007 and P = 0.048, respectively). Central grey matter PK11195 BPND was increased in subjects with clinically isolated syndrome compared to healthy controls but no difference was found in cortical grey matter PK11195 BPND. Microglial activation in clinically isolated syndrome normal-appearing white matter is diffusely increased compared with healthy control subjects and is further increased in those who have magnetic resonance imaging lesions. Furthermore microglial activation in clinically

  17. Cauda equina syndrome as the initial presenting clinical feature of medulloblastoma: a case report

    PubMed Central

    2012-01-01

    Introduction Medulloblastoma is one of the most common pediatric brain malignancies. The usual presenting clinical features are related to posterior fossa syndrome or/and hydrocephalus. Cauda equina syndrome is a very rare presentation for this disease. Case presentation We describe the case of a three-year-old boy with cauda equina syndrome as the initial presenting clinical feature for medulloblastoma. He was initially diagnosed as having a spinal tumor by magnetic resonance imaging scan. Subsequently, a cranial magnetic resonance imaging scan revealed a posterior fossa tumor with features of dissemination. He had substantial improvement after treatment. This case report is complemented by a literature review related to this unusual presentation. Conclusions Medulloblastoma primarily presenting with cauda equina syndrome is very rare. However, spinal drop metastasis should be considered in the pediatric age group to avoid suboptimal management. PMID:22620685

  18. Prevalence of burnout syndrome in clinical nurses at a hospital of excellence

    PubMed Central

    2014-01-01

    Background Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. Method We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. Results The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. Conclusion The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome. PMID:24860618

  19. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    PubMed

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. PMID:23085304

  20. Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases

    PubMed Central

    Ali, Ibrahim K; Karjodkar, Freny R; Sansare, Kaustubh; Salve, Prashant; Goyal, Shikha

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS.

  1. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    PubMed

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. PMID:25440161

  2. Serologic features of primary Sjögren’s syndrome: clinical and prognostic correlation

    PubMed Central

    García-Carrasco, Mario; Mendoza-Pinto, Claudia; Jiménez-Hernández, César; Jiménez-Hernández, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos

    2013-01-01

    Sjögren’s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin’s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers. PMID:23525186

  3. Prosthodontic treatment and medical considerations for a patient with Turner syndrome: a clinical report.

    PubMed

    Nguyen, Caroline T; Hofstede, Theresa M

    2012-10-01

    This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed. PMID:22672559

  4. Harnessing neuroplasticity in Diogenes syndrome: a proposed mechanism to explain clinical improvement.

    PubMed

    Waserman, Jessica E; Hategan, Ana; Bourgeois, James A

    2014-01-01

    Extreme neglect of one's living space and self-care is a perplexing condition termed Diogenes syndrome, where outcomes of intervention are often poor, with high relapse and mortality rates. Relatively little has been reported regarding management approaches. We present a case of Diogenes syndrome responsive to a structured behavioral paradigm during a hospital admission and speculate on the mechanism of neuroplasticity-based behavioral treatment in facilitating clinical improvement. PMID:25091139

  5. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

    SciTech Connect

    Lindsay, E.A.; Grillo, A.; Ferrero, G.B.; Baldini, A.; Ballabio, A.; Zoghbi, H.Y.; Roth, E.J.; Magenis, E.; Grompe, M.; Hulten, M.

    1994-01-15

    The microphthalmia with linear skin defects (MLS) syndrome (MIM309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 305050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here the authors report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. The authors propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, they cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). 24 refs., 4 figs., 1 tab.

  6. Beyond the Niche: Myelodysplastic Syndrome Topobiology in the Laboratory and in the Clinic

    PubMed Central

    Flores-Figueroa, Eugenia; Gratzinger, Dita

    2016-01-01

    We review the murine and human microenvironment and hematopoietic stem cell niche in the context of intact bone marrow architecture in man and mouse, both in normal and in myelodysplastic syndrome marrow. We propose that the complexity of the hematopoietic stem cell niche can usefully be approached in the context of its topobiology, and we provide a model that incorporates in vitro and in vivo models as well as in situ findings from intact human marrow to explain the changes seen in myelodysplastic syndrome patients. We highlight the clinical application of the study of the bone marrow microenvironment and its topobiology in myelodysplastic syndromes. PMID:27089321

  7. The pathogenesis of the clinical features of oral-facial-digital syndrome type I

    PubMed Central

    AlKattan, Wael M.; Al-Qattan, Mohammad M.; Bafaqeeh, Sameer A.

    2015-01-01

    Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control. PMID:26593159

  8. Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

    ERIC Educational Resources Information Center

    Andrews, Alice E.; Stonestreet, Ruth H.

    This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

  9. The Nature of Clinical Depression: Symptoms, Syndromes, and Behavior Analysis

    ERIC Educational Resources Information Center

    Kanter, J. W.; Busch, A. M.; Weeks, C. E.; Landes, S. J.

    2008-01-01

    In this article we discuss the traditional behavioral models of depression and some of the challenges analyzing a phenomenon with such complex and varied features. We present the traditional model and suggest that it does not capture the complexity of the phenomenon, nor do syndromal models of depression that dominate the mainstream…

  10. Mesenchymal Stem Cells and Metabolic Syndrome: Current Understanding and Potential Clinical Implications

    PubMed Central

    2016-01-01

    Metabolic syndrome is an obesity-based, complicated clinical condition that has become a global epidemic problem with a high associated risk for cardiovascular disease and mortality. Dyslipidemia, hypertension, and diabetes or glucose dysmetabolism are the major factors constituting metabolic syndrome, and these factors are interrelated and share underlying pathophysiological mechanisms. Severe obesity predisposes individuals to metabolic syndrome, and recent data suggest that mesenchymal stem cells (MSCs) contribute significantly to adipocyte generation by increasing the number of adipocytes. Accordingly, an increasing number of studies have examined the potential roles of MSCs in managing obesity and metabolic syndrome. However, despite the growing bank of experimental and clinical data, the efficacy and the safety of MSCs in the clinical setting are still to be optimized. It is thus hoped that ongoing and future studies can elucidate the roles of MSCs in metabolic syndrome and lead to MSC-based therapeutic options for affected patients. This review discusses current understanding of the relationship between MSCs and metabolic syndrome and its potential implications for patient management. PMID:27313625

  11. ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

    PubMed Central

    Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

    2015-01-01

    This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

  12. Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

    PubMed Central

    2012-01-01

    This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies. PMID:22958744

  13. NEVUS FLAMMEUS ASSOCIATED WITH DYSPLASTIC NEVI AND LICHEN SCLEROSUS: THE FIRST REPORT IN THE MEDICAL LITERATURE.

    PubMed

    Maximov, G; Chokoeva, A; Philipov, S; Cardoso, J; Ivanov, G; Wollina, U; Tchernev, G

    2016-02-01

    We describe a rare case of a 28 year-old male patient presenting with pruritus and increased sensitivity of the prepuce accompanied by erythematous confluent papules, unilateral nevus flammeus (NF) along almost the whole length of the right lower limb and two dysplastic nevi (DN), one located on the mid back and the other on the medial border of the right fifth toe, the latter coinciding with the NF. A biopsy of the prepuce revealed lichen sclerosus et atrophicus (LSA). Mental health assessment revealed anxiety disorder and predisposition to panic attacks. Several clinical, paraclinical and histopathological examinations were undertaken to evaluate potential underlying factors for such unusual combination of findings. Both dysplastic nevi were surgically removed. A topical calcineurin inhibitor treatment of the LSA was prescribed. For the first time in medical literature, we report an extremely rare association of NF, DN (including DN over NF) and LSA, and we are focusing our discussion on a potentially common genetic background which could explain this unusual combination of different diseases, which could in turn be caused by different mutations in common genes and/or different genes with close location in the genome. PMID:27001787

  14. [3-phase scintigraphy in the Sudeck syndrome. Comparison with the results of roentgenologic and clinical studies].

    PubMed

    Koppers, B

    1982-11-01

    37 patients with clinically and radiologically proved reflex sympathetic dystrophy syndrome were scintigraphed by 99mTc-MDP (three-phase-scintigraphy). In 87% of the examinations (all three-phases) an increased tracer accumulation in the region of the affected limb could be seen scintigraphically. The majority of the positive results (92% resp. 87%) were found in the interval phase (phase II) and the late phase (phase III) of the scintigraphic examinations.--We recommend a staging of the increase of the tracer accumulation when examining the reflex sympathetic dystrophy syndrome. This staging doesn't significantly correlate with the familiar clinical and radiological stagings. However it may be useful when assessing the course of the syndrome.--Increased tracer accumulations could be observed in the case of clinically, radiologically and scintigraphically manifest reflex sympathetic dystrophy syndrome in the region of the foot, frequently in the ipsilateral knee region, rarely in the ipsilateral hip joint region, although clinically the syndrome could not be observed in these regions. PMID:6184293

  15. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    PubMed

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro

    2016-08-01

    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences. PMID:27151277

  16. Normal-weight obesity syndrome: diagnosis, prevalence, and clinical implications.

    PubMed

    Franco, Lana P; Morais, Carla C; Cominetti, Cristiane

    2016-09-01

    The growing concern about the impact of overweight on health has led to studies that shed light on types of obesity other than the classic model based on body mass index. Normal-weight obesity syndrome is characterized by excess body fat in individuals with adequate body mass index (18.5-24.9 kg/m(2)). This condition increases the risk of cardiovascular morbidity and mortality and other conditions associated with chronic diseases, such as insulin resistance, hypertension, and dyslipidemia. The aims of this review are to define the diagnostic criteria for normal-weight obesity syndrome and to examine the risks associated with this condition in order to promote preventive measures and early treatment for affected individuals. PMID:27473199

  17. Barraquer-Simons syndrome: a rare clinical entity.

    PubMed

    Simsek-Kiper, Pelin Ozlem; Roach, Emir; Utine, Gulen Eda; Boduroglu, Koray

    2014-07-01

    The Barraquer-Simons syndrome or acquired parital lipodystrophy is a rare form of partial lipodystrophy characterized by gradual onset of bilaterally symmetrical subcutaneous fat loss from the face, neck, upper extremities, thorax, and abdomen but sparing the lower extremities. The patients gradually loose their subcutaneous fat in clearly demarcated, generally symmetric areas of the body over several years. Nephropathy, myopathy, deafness, epilepsy, and intellectual disability have also been described. Although the etiology is unknown, heterozygous mutations in the gene encoding one of the nuclear lamina proteins, lamin B2, have been reported in several patients. We here report on a young female patient affected by Barraquer-Simons syndrome, without accompanying renal or central nervous system involvement in whom DNA sequencing did not reveal any mutations in the genes LMNB2, LMNA, PPARG, AGPAT2, BSCL2, CAV1, PTRF, PLIN1, and CIDEC. PMID:24788242

  18. Clinical observations of supraventricular arrhythmias in patients with brugada syndrome

    PubMed Central

    Liu, Bing; Guo, Chengjun; Fang, Dongping; Guo, Jinping

    2015-01-01

    Objective: To study various types of supraventricular arrhythmias in patients with Brugada Syndrome. Methods: Forty six patients with ECG of spontaneous type Brugada and with ventricular and/or supraventricular tachyarrhythmia, without structural heart diseases which were excluded by echocardiography, underwent 24 h-Holter recording, electrophysiological study and/or radiofrequency ablation. Results: There were thirty-nine male and seven female (mean age 37.44 years) among total forty-six patients. Twenty one patients had family histories of tachycardia, twentythree patients experienced episodes of syncope, and three patients were resuscitated from cardiac arrest. One patient had ventricular fibrillation and third degree atrioventricular block, eleven patients had polymorphic ventricular tachycardia and five patients had monomorphic ventricular tachycardia. Fourteen patients had atrial tachyarrhythmia, paroxysmal supraventricular tachycardia was found in five patients including four Wolf-Parkinson-White syndrome, two patients hadventricular tachycardia and third degree atrioventricular block, one of them had atrial fibrillation, two patients had both supraventricular tachycardia and ventricular tachycardia, three patients had both atrial tachyarrhythmia and supraventricular tachycardia, two third degree atrioventricular block patients had atrial flutter, one patienthad both atrial tachyrhythmia and ventricular tachycardia. Radiofrequency blation was performed in thirty-nine patients and succeed in thirty-two, four patients were implanted with pacemakers, and four patients had implantable cardioverter defibrillators. Conclusion: In addition to ventricular tachycardia and ventricular fibrillation, patients with Brugada syndrome exhibit various supraventricular tachyarrhythmia and third degree atrioventricular block. In patients with Brugada syndrome, the dysfunction of the cardiac ion channel, which related to mutation of cardiac sodium channelgene, is not limited in

  19. Hemorrhagic Fever with Renal Syndrome: Pathogenesis and Clinical Picture.

    PubMed

    Jiang, Hong; Du, Hong; Wang, Li M; Wang, Ping Z; Bai, Xue F

    2016-01-01

    Hantaan virus (HTNV) causes hemorrhagic fever with renal syndrome (HFRS), which is a zoonosis endemic in eastern Asia, especially in China. The reservoir host of HTNV is field mouse (Apodemus agraricus). The main manifestation of HFRS, including acute kidney injury, increases vascular permeability, and coagulation abnormalities. In this paper, we review the current knowledge of the pathogenesis of HFRS including virus factor, immunity factor and host genetic factors. Furthermore, the treatment and prevention will be discussed. PMID:26870699

  20. Ocular features in Alport syndrome: pathogenesis and clinical significance.

    PubMed

    Savige, Judy; Sheth, Shivanand; Leys, Anita; Nicholson, Anjali; Mack, Heather G; Colville, Deb

    2015-04-01

    Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging. PMID:25649157

  1. Hemorrhagic Fever with Renal Syndrome: Pathogenesis and Clinical Picture

    PubMed Central

    Jiang, Hong; Du, Hong; Wang, Li M.; Wang, Ping Z.; Bai, Xue F.

    2016-01-01

    Hantaan virus (HTNV) causes hemorrhagic fever with renal syndrome (HFRS), which is a zoonosis endemic in eastern Asia, especially in China. The reservoir host of HTNV is field mouse (Apodemus agraricus). The main manifestation of HFRS, including acute kidney injury, increases vascular permeability, and coagulation abnormalities. In this paper, we review the current knowledge of the pathogenesis of HFRS including virus factor, immunity factor and host genetic factors. Furthermore, the treatment and prevention will be discussed. PMID:26870699

  2. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    PubMed Central

    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

  3. The Narcotic Bowel Syndrome: Clinical Features, Pathophysiology and Management

    PubMed Central

    Grunkemeier, David M.S.; Cassara, Joseph E.; Dalton, Christine B.; Drossman, Douglas A.

    2007-01-01

    Narcotic bowel syndrome (NBS) is a subset of opioid bowel dysfunction that is characterized by chronic or frequently recurring abdominal pain that worsens with continued or escalating dosages of narcotics. This syndrome is under recognized and may be becoming more prevalent. This may be due in the United States to increases in using narcotics for chronic non-malignant painful disorders, and the development of maladaptive therapeutic interactions around its use. NBS can occur in patients with no prior gastrointestinal disorder who receive high dosages of narcotics after surgery or acute painful problems, among patients with functional GI disorders or other chronic gastrointestinal diseases who are managed by physicians unaware of the hyperalgesic effects of chronic opioids. The evidence for the enhanced pain perception is based on: a) activation of excitatory anti-analgesic pathways within a bimodal opioid regulation system, b) descending facilitation of pain at the Rostral Ventral Medulla and pain facilitation via dynorphin and CCK activation, and c) glial cell activation that produces morphine tolerance and enhances opioid induced pain. Treatment involves early recognition of the syndrome, an effective physician patient relationship, graded withdrawal of the narcotic according to a specified withdrawal program and the institution of medications to reduce withdrawal effects. PMID:17916540

  4. Cushing's syndrome: from physiological principles to diagnosis and clinical care

    PubMed Central

    Raff, Hershel; Carroll, Ty

    2015-01-01

    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic–pituitary–adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism – Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms. PMID:25480800

  5. Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome

    PubMed Central

    Kim, Seo-Hyun

    2016-01-01

    Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody–positive antisynthetase syndrome. The present case showed resolution of ARDS after treatment with high-dose corticosteroids. Given that steroids are not greatly beneficial in the treatment of ARDS, it is likely that the improvement of the respiratory symptoms in this patient also resulted from the prompt suppression of the inflammatory systemic response by corticosteroids. PMID:27433180

  6. Acute Respiratory Distress Syndrome as the Initial Clinical Manifestation of an Antisynthetase Syndrome.

    PubMed

    Kim, Seo-Hyun; Park, I-Nae

    2016-07-01

    Antisynthetase syndrome has been recognized as an important cause of autoimmune inflammatory myopathy in a subset of patients with polymyositis and dermatomyositis. It is associated with serum antibody to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including fever, myositis, interstitial lung disease, mechanic's hand-like cutaneous involvement, Raynaud phenomenon, and polyarthritis. Lung disease is the presenting feature in 50% of the cases. We report a case of a 60-year-old female with acute respiratory distress syndrome (ARDS), which later proved to be an unexpected and initial manifestation of anti-Jo-1 antibody-positive antisynthetase syndrome. The present case showed resolution of ARDS after treatment with high-dose corticosteroids. Given that steroids are not greatly beneficial in the treatment of ARDS, it is likely that the improvement of the respiratory symptoms in this patient also resulted from the prompt suppression of the inflammatory systemic response by corticosteroids. PMID:27433180

  7. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.

    PubMed

    Hasumi, Hisashi; Baba, Masaya; Hasumi, Yukiko; Furuya, Mitsuko; Yao, Masahiro

    2016-03-01

    Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. Recent studies using murine models for FLCN, a protein encoded by the FLCN gene, and its two binding partners, folliculin-interacting protein 1 (FNIP1) and folliculin-interacting protein 2 (FNIP2), have uncovered important roles for FLCN, FNIP1 and FNIP2 in cell metabolism, which include AMP-activated protein kinase-mediated energy sensing, Ppargc1a-driven mitochondrial oxidative phosphorylation and mTORC1-dependent cell proliferation. Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer. PMID:26608100

  8. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital.

    PubMed

    Shaaya, Elias A; Grocott, Olivia R; Laing, Olivia; Thibert, Ronald L

    2016-07-01

    Epilepsy is a common feature of Angelman syndrome (~80-90%), with the most common seizure types including myoclonic, atonic, atypical absence, focal, and generalized tonic-clonic. Seizure types are similar among the various genetic subtypes, but epilepsy in those with maternal deletions is more frequent and more refractory to medication. Treatment with older antiepileptic drugs such as valproic acid and clonazepam is effective, but these medications tend to have less favorable side effect profiles in Angelman syndrome compared with those in newer medications. This study aimed to assess the use of newer antiepileptic drug therapies in individuals with Angelman syndrome followed at the Angelman Syndrome Clinic at the Massachusetts General Hospital. Many of the subjects in this study were on valproic acid therapy prior to their initial evaluation and exhibited increased tremor, decreased balance, and/or regression of motor skills, which resolved after tapering off of this medication. Newer antiepileptic drugs such as levetiracetam, lamotrigine, and clobazam, and to a lesser extent topiramate, appeared to be as effective - if not more so - as valproic acid and clonazepam while offering more favorable side effect profiles. The low glycemic index treatment also provided effective seizure control with minimal side effects. The majority of subjects remained on combination therapy with levetiracetam, lamotrigine, and clobazam being the most commonly used medications, indicating a changing trend when compared with prior studies. PMID:27206232

  9. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

    PubMed

    Jedraszak, Guillaume; Demeer, Bénédicte; Mathieu-Dramard, Michèle; Andrieux, Joris; Receveur, Aline; Weber, Astrid; Maye, Una; Foulds, Nicola; Temple, I K; Crolla, John; Alex-Cordier, Marie-Pierre; Sanlaville, Damien; Ewans, Lisa; Wilson, Meredith; Armstrong, Ruth; Clarkson, Amanda; Copin, Henri; Morin, Gilles

    2015-03-01

    Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb. The existence of a 20q11.2 microdeletion syndrome has been proposed, based on five previously reported cases that displayed anomalies of the extremities, intellectual disability, feeding difficulties, craniofacial dysmorphism and variable malformations. To further characterize this syndrome, we report on six new patients with 20q11.2 microdeletions diagnosed by whole-genome array-based comparative genomic hybridization. These patient reports more precisely refined the phenotype and narrowed the minimal critical region involved in this syndrome. Careful clinical assessment confirms the distinctive clinical phenotype. The craniofacial dysmorphism consists of high forehead, frontal bossing, enophthalmos, and midface hypoplasia. We have identified a 1.62 megabase minimal critical region involved in this syndrome encompassing three genes—GDF5, EPB41L1, andSAMHD1—which are strong candidates for different aspects of the phenotype. These results support that 20q11.2 microdeletion syndrome is a new contiguous gene deletion syndrome with a recognizable phenotype. PMID:25572454

  10. Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management.

    PubMed

    McDermott, Amelia; Jacks, Jennifer; Kessler, Marcus; Emanuel, Peter D; Gao, Ling

    2015-02-01

    The disease spectrum currently known as the proteasome-associated autoinflammatory syndromes (PRAAS) was first described in 1939 in patients who presented with recurrent fevers beginning in infancy or early childhood, which were accompanied by nodular erythema, a pernio-like rash, and joint contractures. Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum. Recently, independent studies have identified mutations in the human proteasome subunit β type 8 (PSMB8) gene, which result in a sustained inflammatory response in all syndromes. Further functional studies not only suggest a causative role of PSMB8 mutations but also imply that they represent one disease spectrum, referred to as PRAAS. In this paper, we review the clinical presentations and laboratory findings of PRAAS, as well as the most recent advances in pathogeneses, diagnosis, and treatment options for patients with diseases in this spectrum. PMID:25521013

  11. Hemizygosity at the elastin locus and clinical features of Williams syndrome

    SciTech Connect

    Morimoto, Y; Kuwano, A.; Kuwajima, K.

    1994-09-01

    Williams syndrome is a recognizable syndrome characterized by distinctive facial appearance, gregarious personality, mental retardation, congenital heart defect, particularly supravalvular aortic stenosis (SVAS), and joint limitation. SVAS is an autosomal vascular disorder and the elastin gene was disrupted in patients with SVAS. Ewat et al. reported that hemizygosity at the elastin locus was detected in four familial and five sporadic cases of Williams syndrome. However, three patients did not have SVAS. We reconfirmed hemizygosity at the elastin locus in five patients with typical clinical features of Williams syndrome. Hemizygosity was detected in four cases with SVAS. However, one patient with distinctive facial appearance and typical Williams syndrome personality had two alleles of the elastin gene, but he did not have the congenital heart anomaly. Williams syndrome is thought to be a contiguous gene disorder. Thus, our data suggest that the elastin gene is responsible for the vascular defect in patients with Williams syndrome, and flanking genes are responsible for characteristic facial appearance and personality.

  12. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study

    PubMed Central

    Hosseininejad, Seyyed-Mohsen; Bazrafshan, Behnaz

    2016-01-01

    As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above. PMID:27042551

  13. Adults with genetic syndromes and cardiovascular abnormalities: Clinical history and management

    PubMed Central

    Lin, Angela E.; Basson, Craig T.; Goldmuntz, Elizabeth; Magoulas, Pilar L.; McDermott, Deborah A.; McDonald-McGinn, Donna M.; McPherson, Elspeth; Morris, Colleen A.; Noonan, Jacqueline; Nowak, Catherine; Pierpont, Mary Ella; Pyeritz, Reed E.; Rope, Alan F.; Zackai, Elaine; Pober, Barbara R.

    2009-01-01

    Cardiovascular abnormalities, especially structural congenital heart defects (CHDs), commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected CHDs such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology followup, primary care providers, geneticists and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical and reproductive issues associated with common genetic syndromes which are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome. PMID:18580689

  14. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.

    PubMed

    Hosseininejad, Seyyed-Mohsen; Bazrafshan, Behnaz; Alaee, Ehsan

    2016-02-01

    As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above. PMID:27042551

  15. Pelvic congestion syndrome and left renal compression syndrome - clinical features and therapeutic approaches.

    PubMed

    Jeanneret, Christina; Beier, Konstantin; von Weymarn, Alexander; Traber, Jürg

    2016-07-01

    Knowledge of the anatomy of the pelvic, gonadal and renal veins is important to understand pelvic congestion syndrome (PCS) and left renal vein compression syndrome (LRCS), which is also known as the nutcracker syndrome. LRCS is related to PCS and to the presence of vulvar, vaginal and pudendal varicose veins. The diagnosis of the two syndromes is difficult, and usually achieved with CT- or phlebography. The gold standard is the intravenous pressure measurement using conventional phlebography. The definition of PCS is described as pelvic pain, aggravated in the standing position and lasting for more than 6 months. Pain in the left flank and microhaematuria is seen in patients with LRCS. Women with multiple pregnancies are at increased risk of developing varicose vein recurrences with pelvic drainage and ovarian vein reflux after crossectomy and stripping of the great saphenous vein. The therapeutic options are: conservative treatment (medroxyprogesteron) or interventional (coiling of the ovarian vein) or operative treatment (clipping of the ovarian vein). Controlled prospective trials are needed to find the best treatment. PMID:27428495

  16. How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

    PubMed

    Downs, Jenny; Forbes, David; Johnson, Michael; Leonard, Helen

    2016-08-01

    Rett syndrome is a rare disorder caused by a mutation in the MECP2 gene. Those affected generally have severe functional impairments, and medical comorbidities such as scoliosis and poor growth are common. There is a paucity of information on the natural history of many rare disorders and an even greater deficit of evidence to guide best practice. The population-based and longitudinal Australian Rett Syndrome Database established in 1993 has supported investigations of the natural history of Rett syndrome and effectiveness of treatments. This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework. Compared with conservative management, we have shown that spinal fusion is associated with reduced mortality and better respiratory health. We have also shown that gastrostomy insertion is associated with subsequent weight gain. Family counselling for both procedures necessarily must include family perspectives and careful clinical attention to their needs and wishes. Vignettes describing family decision-making and experiences are presented to illustrate the principals of beneficence and autonomy in determining the best interests of the child and family. A blend of evidence-based practice with a strong clinical ethics framework has capacity to build existing strengths in families and reduce the negative impacts of disability and in so doing, optimise the health and wellbeing of those with Rett syndrome. PMID:27243819

  17. Sjögren Syndrome: Why Do Clinical Trials Fail?

    PubMed

    Fox, Robert I; Fox, Carla M

    2016-08-01

    Sjögren syndrome (SS) comprises glandular and extraglandular manifestations. Double-blind prospective trials of traditional disease-modifying antirheumatic drugs and biologics have failed because they have not improved benign symptoms, the major cause of lowered quality of life. Rituximab has proven effective in SS patients with associated mixed cryoglobulinemia, parotid gland swelling, lymphocytic interstitial pneumonitis, thrombocytopenia, and other manifestations. There were few of these SS patients in the trials required for FDA approval. Most patients had benign symptoms and did not show benefit, leading to failure of the study. This article examines the reasons for these failures and proposes future directions. PMID:27431352

  18. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    ERIC Educational Resources Information Center

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  19. Hybrid eccrine gland and hair follicle hamartoma: a new entity of adnexal nevus.

    PubMed

    Luo, Di-Qing; Huang, Chang-Zheng; Xie, Wen-Lin; Xu, Feng-Feng; Mo, Li-Qiu

    2015-02-01

    Eccrine nevus shows increase in number or size of eccrine glands, whereas hair follicle nevus is composed of densely packed normal vellus hairs, and eccrine-pilar angiomatous nevus reveals increase of eccrine, pilar, and angiomatous structures. No case with increased number of both eccrine glands and hair follicles only in the dermis has been previously reported. A 10-month-old girl presented with cutaneous hamartoma with overlying skin hyperpigmentation on her left hypochondrium since 3 months of age, in whom the lesion was completely excised. Histopathology demonstrated evidently increased number of both eccrine glands and hair follicles in the dermis with reactive hyperplasia of collagen fibers. No recurrence occurred after the tumor was completely excised. A term "hybrid eccrine gland and hair follicle hamartoma" is proposed for this unique lesion. PMID:24335519

  20. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

    PubMed

    Menko, Fred H; Aalfs, Cora M; Henneman, Lidewij; Stol, Yrrah; Wijdenes, Miranda; Otten, Ellen; Ploegmakers, Marleen M J; Legemaate, Johan; Smets, Ellen M A; de Wert, Guido M W R; Tibben, Aad

    2013-06-01

    The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information. Barriers in conveying information include family communication problems and variable attitudes and practice among clinical geneticists. In this complex field, both medical, psychological, ethical and juridical aspects deserve consideration. Here we summarize the development of a revised guideline for clinical geneticists that allows a more active role of the geneticist, aimed at improving procedures to inform family members in Lynch syndrome and other hereditary and familial cancer syndromes. PMID:23535968

  1. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium.

    PubMed

    Mai, Phuong L; Malkin, David; Garber, Judy E; Schiffman, Joshua D; Weitzel, Jeffrey N; Strong, Louise C; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D Gareth; Bleiker, Eveline; Patenaude, Andrea; Schneider, Katherine; Wilfond, Benjamin; Peters, June A; Hwang, Paul M; Ford, James; Tabori, Uri; Ognjanovic, Simona; Dennis, Phillip A; Wentzensen, Ingrid M; Greene, Mark H; Fraumeni, Joseph F; Savage, Sharon A

    2012-10-01

    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium. PMID:22939227

  2. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

    PubMed Central

    Mai, Phuong L.; Malkin, David; Garber, Judy E.; Schiffman, Joshua D.; Weitzel, Jeffrey N.; Strong, Louise C.; Wyss, Oliver; Locke, Luana; Means, Von; Achatz, Maria Isabel; Hainaut, Pierre; Frebourg, Thierry; Evans, D. Gareth; Bleiker, Eveline; Patenaude, Andrea; Schneider, Katherine; Wilfond, Benjamin; Peters, June A.; Hwang, Paul M.; Ford, James; Tabori, Uri; Ognjanovic, Simona; Dennis, Phillip A.; Wentzensen, Ingrid M.; Greene, Mark H.; Fraumeni, Joseph F.; Savage, Sharon A.

    2013-01-01

    Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome that was first described in 1969. In most families, it is caused by germline mutations in the TP53 gene and is characterized by early onset of multiple specific cancers and very high lifetime cumulative cancer risk. Despite significant progress in understanding the molecular biology of TP53, the optimal clinical management of this syndrome is poorly defined. We convened a workshop on November 2, 2010, at the National Institutes of Health in Bethesda, Maryland, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community. This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium. PMID:22939227

  3. [Charles Bonnet's syndrome: clinical insights in a fascinating disease].

    PubMed

    Elflein, H M

    2013-12-01

    Even mentally and cognitively healthy people can experience visual hallucinations. These are called Charles Bonnet's syndrome, named after the Swiss scientist, who first described such perceptions in the 18th century. Usually patients possess insight in the unreality of their visual experiences. The definitions of CBS are not consistent. Visual impairment or blindness is not part of every definition, but often is associated with CBS. Ophthalmologists should be aware of this syndrome, since its prevalence is high among blind or visually impaired people: patients often are reluctant to admit their hallucinatory experiences, because of the fear of being stigmatised. Possibly women are affected more often than men. CBS is well investigated in the elderly, but also young people might experience visual hallucinations. Hallucinatory contents commonly are persons, with varying duration of the hallucinations. Most patients experience more than one hallucinatory episode. CBS is best investigated in patients suffering from AMD. Neuroimaging studies suggest that cerebral abnormalities, mainly in the occipital cortex, might also play a role in the pathogenesis of CBS. Many patients do not require (drug) treatment, since education itself is helpful in most cases. The pathophysiology remains unclear, but there are a couple of theories. PMID:24014038

  4. Reversible cerebral vasoconstriction syndrome: an under-recognized clinical emergency

    PubMed Central

    Chen, Shih-Pin; Fuh, Jong-Ling; Wang, Shuu-Jiun

    2010-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by recurrent thunderclap headaches and reversible cerebral vasoconstrictions. RCVS is more common than previously thought and should be differentiated from aneurismal subarachnoid hemorrhage. RCVS can be spontaneous or evoked by pregnancy or exposure to vasoactive substances. Patients tend to be middle-aged women but pediatric patients have been seen. Up to 80% of sufferers have identifiable triggers. Thunderclap headaches tend to recur daily and last for a period of around 2 weeks, while the vasoconstrictions may last for months. About one-third of patients have blood pressure surges accompanying headache attacks. The potential complications of RCVS include posterior reversible encephalopathy syndrome, ischemic strokes over watershed zones, cortical subarachnoid hemorrhage and intracerebral hemorrhage. Magnetic resonance images including angiography and venography and lumbar punctures are the studies of choice, whereas catheter angiography should not be implemented routinely. Patients with a mean flow velocity of the middle cerebral artery greater than 120 cm/s shown by transcranial color-coded sonography have a greater risk of ischemic complications than those without. The pathophysiology of RCVS remains unknown; sympathetic hyperactivity may play a role. Open-label trials showed calcium channel blockers, such as nimodipine may be an effective treatment in prevention of thunderclap headache attacks. In severe cases, intra-arterial therapy may be considered. Most patients with RCVS recover without sequelae; however, relapse has been reported in a small proportion of patients. PMID:21179608

  5. Physiological Changes and Clinical Implications of Syndromic Craniosynostosis.

    PubMed

    Sakamoto, Hiroaki; Matsusaka, Yasuhiro; Kunihiro, Noritsugu; Imai, Keisuke

    2016-05-01

    Syndromic craniosynostosis has severe cranial stenosis and deformity, combined with hypoplastic maxillary bone and other developmental skeletal lesions. Among these various lesions, upper air way obstruction by hypoplastic maxillary bone could be the first life-threatening condition after birth. Aggressive cranial vault expansion for severely deformed cranial vaults due to multiple synostoses is necessary even in infancy, to normalize the intracranial pressure. Fronto-orbital advancement (FOA) is recommended for patients with hypoplastic anterior part of cranium induced by bicoronal and/or metopic synostoses, and posterior cranial vault expansion is recommended for those with flattening of the posterior part of the cranium by lambdoid synostosis. Although sufficient spontaneous reshaping of the cranium can be expected by expansive cranioplasty, keeping the cranial bone flap expanded sufficiently is often difficult when the initial expansion is performed during infancy. So far distraction osteogenesis (DO) is the only method to make it possible and to provide low rates of re-expansion of the cranial vault. DO is quite beneficial for both FOA and posterior cranial vault expansion, compared with the conventional methods. Associated hydrocephalus and chronic tonsillar herniation due to lambdoid synostosis can be surgically treatable. Abnormal venous drainages from the intracranial space and air way obstruction should be always considered at any surgical procedures. Neurosurgeons have to know well about the managements not only of the deformed cranial vault and the associated brain lesions but also of other multiple skeletal lesions associated with syndromic craniosynostosis, to improve treatment outcome. PMID:27226850

  6. Physiological Changes and Clinical Implications of Syndromic Craniosynostosis

    PubMed Central

    Matsusaka, Yasuhiro; Kunihiro, Noritsugu; Imai, Keisuke

    2016-01-01

    Syndromic craniosynostosis has severe cranial stenosis and deformity, combined with hypoplastic maxillary bone and other developmental skeletal lesions. Among these various lesions, upper air way obstruction by hypoplastic maxillary bone could be the first life-threatening condition after birth. Aggressive cranial vault expansion for severely deformed cranial vaults due to multiple synostoses is necessary even in infancy, to normalize the intracranial pressure. Fronto-orbital advancement (FOA) is recommended for patients with hypoplastic anterior part of cranium induced by bicoronal and/or metopic synostoses, and posterior cranial vault expansion is recommended for those with flattening of the posterior part of the cranium by lambdoid synostosis. Although sufficient spontaneous reshaping of the cranium can be expected by expansive cranioplasty, keeping the cranial bone flap expanded sufficiently is often difficult when the initial expansion is performed during infancy. So far distraction osteogenesis (DO) is the only method to make it possible and to provide low rates of re-expansion of the cranial vault. DO is quite beneficial for both FOA and posterior cranial vault expansion, compared with the conventional methods. Associated hydrocephalus and chronic tonsillar herniation due to lambdoid synostosis can be surgically treatable. Abnormal venous drainages from the intracranial space and air way obstruction should be always considered at any surgical procedures. Neurosurgeons have to know well about the managements not only of the deformed cranial vault and the associated brain lesions but also of other multiple skeletal lesions associated with syndromic craniosynostosis, to improve treatment outcome. PMID:27226850

  7. Chronic opioid use in fibromyalgia syndrome: a clinical review.

    PubMed

    Painter, Jacob T; Crofford, Leslie J

    2013-03-01

    Chronic opioid therapy in the treatment of chronic nonmalignant pain has increased drastically over the past decade. This is a worrisome trend in general, but specifically, given pathophysiologic characteristics seen in fibromyalgia (FM) syndrome patients, the use of this class of medication deserves special scrutiny. We first describe the current understanding of the etiology and pathophysiology of FM, including the role of genetic and environmental factors in the development of this syndrome. We then discuss the biologic effects of opioid use. Next, we review the pharmaceutical treatment options for FM, including 3 Food and Drug Administration-approved medications, and the evolution of treatment guidelines since 2004. We then highlight the various consequences associated with the mechanism of action of opioids and the specific concerns for FM patients.Finally, summarizing the existing literature, we make the case that chronic opioid use is inappropriate in the treatment of FM because of the interaction of unique pathophysiologic characteristics of the patients and effects associated with chronic opioid use. PMID:23364665

  8. Somatic Mutations in NEK9 Cause Nevus Comedonicus.

    PubMed

    Levinsohn, Jonathan L; Sugarman, Jeffrey L; McNiff, Jennifer M; Antaya, Richard J; Choate, Keith A

    2016-05-01

    Acne vulgaris (AV) affects most adolescents, and of those affected, moderate to severe disease occurs in 20%. Comedones, follicular plugs consisting of desquamated keratinocytes and sebum, are central to its pathogenesis. Despite high heritability in first-degree relatives, AV genetic determinants remain incompletely understood. We therefore employed whole-exome sequencing (WES) in nevus comedonicus (NC), a rare disorder that features comedones and inflammatory acne cysts in localized, linear configurations. WES identified somatic NEK9 mutations, each affecting highly conserved residues within its kinase or RCC1 domains, in affected tissue of three out of three NC-affected subjects. All mutations are gain of function, resulting in increased phosphorylation at Thr210, a hallmark of NEK9 kinase activation. We found that comedo formation in NC is marked by loss of follicular differentiation markers, expansion of keratin-15-positive cells from localization within the bulge to the entire sub-bulge follicle and cyst, and ectopic expression of keratin 10, a marker of interfollicular differentiation not present in normal follicles. These findings suggest that NEK9 mutations in NC disrupt normal follicular differentiation and identify NEK9 as a potential regulator of follicular homeostasis. PMID:27153399

  9. [ZHANG Tangfa's characteristics of acupuncture academic ideology and clinical treatment of syndrome differentiation].

    PubMed

    Zhang, Hongxing

    2015-10-01

    Through collecting and sorting of works, literature and medical cases regarding professor ZHANG Tangfa, it is found that his acupuncture academic ideology and clinical treatment of syndrome differentiation can be summarized as: tracing the source and paying attention to basic theory, especially the meridian theory and conception vessel and governor vessel; focusing on acupuncture manipulation and emphasizing acupuncture basic skills; highly valuing treating spirit, acquiring and maintaining needling sensation; underlining "three differentiations" that is consisted of syndrome differentiation, disease differentiation and meridian differentiation to guide the clinical prescriptions of acupoints; exploring and ingenious use of scalp acupuncture; being concerned on research of difficult and complicated diseases; advocating comparative studies to optimize the clinical treatment plan; proposing the combination of Chinese and western medicine, including diagnosis, treatment and basic theory, to improve the clinical therapeutic effects of acupuncture. PMID:26790219

  10. EFFECT OF HAIR COLOR AND SUN SENSITIVITY ON NEVUS COUNTS IN WHITE CHILDREN IN COLORADO

    PubMed Central

    Aalborg, Jenny; Morelli, Joseph G.; Byers, Tim E.; Mokrohisky, Stefan T.; Crane, Lori A.

    2013-01-01

    BACKGROUND It has been widely reported that individuals with a light phenotype (i.e., light hair color, light base skin color, and propensity to burn) have more nevi and are at greater risk for developing skin cancer. No studies have systematically investigated how phenotypic traits may interact in relation to nevus development. OBJECTIVE We sought to systematically examine whether any combinations of phenotype are associated with a greater or lesser risk for nevus development in white children. METHODS In the summer of 2007, 654 children were examined to determine full body nevus counts, skin color by colorimetry, and hair and eye color by comparison to charts. Interviews of parents were conducted to capture sun sensitivity, sun exposure and sun protection practices. RESULTS Among 9-year-old children with sun sensitivity rating type 2 (painful burn/light tan), those with light hair had lower nevus counts than did those with dark hair (p-value for interaction = 0.03). This relationship was independent of eye color, presence of freckling, gender, usual daily sun exposure, sunburn in 2004–2007, sun protection index and waterside vacation sun exposure. The difference in nevus counts was further determined to be specific to small nevi (less than 2 mm) and nevi in intermittently exposed body sites. LIMITATIONS Geographic and genetic differences in other study populations may produce different results. CONCLUSION The standard acceptance that dark phenotype is a marker for low melanoma risk and light phenotype a marker for high risk may need to be reevaluated. In non-Hispanic white children, dark haired individuals who burn readily and then tan slightly are more prone to nevus development, and may therefore be a previously under-recognized high risk group for melanoma. PMID:20584558

  11. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

    ERIC Educational Resources Information Center

    Young, Walter C.; And Others

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  12. Cerebellar Ataxia with Bilateral Vestibulopathy: Description of a Syndrome and Its Characteristic Clinical Sign

    ERIC Educational Resources Information Center

    Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.

    2004-01-01

    We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…

  13. Down Syndrome in the Neurology Clinic: Too Much? Too Little? Too Late?

    ERIC Educational Resources Information Center

    Larner, Andrew J.

    2007-01-01

    This paper presents a review of all patients with Down syndrome seen over a 5-year period by one consultant neurologist in general outpatient and specialist cognitive function clinics. It revealed only 7 cases in greater than 4500 general referrals (= 0.2%), all referred with suspected seizure disorders. The diagnosis of epilepsy was confirmed in…

  14. Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome

    ERIC Educational Resources Information Center

    Berry-Kravis, Elizabeth; Sumis, Allison; Kim, Ok-Kyung; Lara, Rebecca; Wuu, Joanne

    2008-01-01

    Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test-retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an…

  15. Consistency between Research and Clinical Diagnoses of Autism among Boys and Girls with Fragile X Syndrome

    ERIC Educational Resources Information Center

    Klusek, J.; Martin, G. E.; Losh, M.

    2014-01-01

    Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

  16. Developmental Right-Hemisphere Syndrome: Clinical Spectrum of the Nonverbal Learning Disability.

    ERIC Educational Resources Information Center

    Gross-Tsur, Varda; And Others

    1995-01-01

    This study reports clinical characteristics of developmental right-hemisphere syndrome, a nonverbal learning disability, in 20 children (mean age 9.5 years) who also manifested attention-deficit/hyperactivity disorder, graphomotor problems, and slow performance. Diagnostic criteria included emotional and interpersonal difficulties, paralinguistic…

  17. Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyria.

    PubMed

    Valle Feijóo, M L; Bermúdez Sanjurjo, J R; González Vázquez, L; Rey Martínez, M; de la Fuente Aguado, J

    2015-01-01

    Acute intermittent porphyria (AIP) is a rare condition characterized by abdominal pain and a wide range of nonspecific symptoms. We report the case of a woman with abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SIADH) as clinical presentation of AIP. The diagnosis was achieved through the etiologic study of the SIADH. PMID:25796467

  18. Clinical and biochemical effects of parachlorophenylalanine in a patient with the carcinoid syndrome

    PubMed Central

    Bax, N. D. S.; Woods, H. F.; Boulton, A. J. M.; Green, A. R.

    1982-01-01

    The clinical and biochemical features of a patient with flushing and severe diarrhoea due to the carcinoid syndrome are described. The patient had a paradoxical response to the tryptophan hydroxylase inhibitor parachlorophenylalanine with complete abolition of flushing and no effect on the diarrhoea. Treatment with this drug was limited by adverse effects. PMID:6215640

  19. Novel treatment of Hori's nevus: A combination of fractional nonablative 2,940-nm Er:YAG and low-fluence 1,064-nm Q-switched Nd:YAG laser

    PubMed Central

    Tian, Brian Wei Cheng Anthony

    2015-01-01

    Objective: To demonstrate a combination laser therapy to treat Hori's nevus. Design: A prospective study. Setting: A Singapore-based clinic. Participants: Five female patients, aged 30-46 years, with bilateral malar Hori's nevus. Measurements: Photographs were taken before treatment and 1 month after laser treatment was completed. These were graded by three independent physicians. The patients were also asked to grade their treatment response subjectively. They were followed up for a total of 3 months after laser treatment to monitor recurrence. Materials and Methods: The fractional nonablative 2,940-nm Er:YAG laser with a fluence of 0.7 J/cm2, spot size 12 mm, and frequency 15 Hz was used to perform a full-face single-pass treatment. Subsequently, a second pass and third pass over Hori's nevi were done bilaterally till the clinical endpoint of skin whitening. The 1,064-nm Q-switched (QS) Nd:YAG at a fluence of 2.0 J/cm2, frequency 2 Hz, and 4-mm spot size was used to deliver multiple passes over Hori's nevus till erythema with mild petechiae appeared. We repeated the treatment once a week for 3 more consecutive weeks. Results: All five patients had above 80% improvement in their pigmentation and two (skin type III) achieved complete 100% clearance. Based on the patients’ subjective assessments, all five of them expressed satisfaction and felt that their pigmentation had improved. There were no complications noted. Conclusion: The fractional nonablative 2940 nm Er:YAG laser and Q-switched 1064nm laser Nd:YAG combination is an effective and safe treatment for Hori's nevus. PMID:26865788

  20. Report of rare palatal expression of Nevus of Ota with amendment of Tanino's classification.

    PubMed

    Guledgud, Mahima V; Patil, Karthikeya; Srivathsa, Srikanth H; Malleshi, Suchetha N

    2011-01-01

    Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino's classification, the authors propose a modification to the same. PMID:22484884

  1. The Nature of Clinical Depression: Symptoms, Syndromes, and Behavior Analysis

    PubMed Central

    Kanter, Jonathan W; Busch, Andrew M; Weeks, Cristal E; Landes, Sara J

    2008-01-01

    In this article we discuss the traditional behavioral models of depression and some of the challenges analyzing a phenomenon with such complex and varied features. We present the traditional model and suggest that it does not capture the complexity of the phenomenon, nor do syndromal models of depression that dominate the mainstream conceptualization of depression. Instead, we emphasize ideographic analysis and present depression as a maladaptive dysregulation of an ultimately adaptive elicited emotional response. We emphasize environmental factors, specifically aversive control and private verbal events, in terms of relational frame theory, that may transform an adaptive response into a maladaptive disorder. We consider the role of negative thought processes and rumination, common and debilitating aspects of depression that have traditionally been neglected by behavior analysts. PMID:22478499

  2. Clinical biomarkers and management of post thrombotic syndrome.

    PubMed

    Biondi, Antonio; Strano, Giuseppe; Ruggeri, Luca; Vadala, Salvatore; Tropea, Alessandro; Basile, Francesco

    2010-01-01

    The post-thrombotic syndrome (PTS) is a long-term complication of deep venous thrombosis (DVT) that is characterized by chronic, persistent pain, swelling and other signs in the affected limb. PTS is common, burdensome and costly. It is likely to increase in prevalence, since despite widespread use of and improvements in the efficacy of thromboprophylaxis, the incidence of DVT has not decreased over time. Preventing ipsilateral recurrence of DVT, by ensuring an adequate duration and intensity of anticoagulation for the initial DVT and by prescribing situational thromboprophylaxis after discontinuation of oral anticoagulants, is likely to reduce the risk of developing PTS. Pending the results of ongoing studies, stockings are recommended in patients with persistent symptoms or swelling after DVT. Future research should focus on standardizing criteria for PTS diagnosis, identification of DVT patients at high risk for PTS, and rigorously evaluating the effectiveness of stockings, thrombolysis, and venoactive drugs in preventing or treating PTS. PMID:20036921

  3. Graphical representation of clinical outcomes for patients with myelodysplastic syndromes.

    PubMed

    Steensma, David P

    2016-01-01

    The causes of death in patients with myelodysplastic syndromes (MDS) are diverse: infections, hemorrhage, complications of chronic anemia and repeated blood transfusions, and complications of progression to acute myeloid leukemia. Since most patients with MDS are diagnosed late in life, some individuals with MDS will succumb to an unrelated condition, such as one of the disorders that are common in geriatric populations. Currently, only a small proportion of patients with MDS - less than 5% - undergo allogeneic stem cell transplantation, a procedure that offers the only possibility of cure. This brief review summarizes outcomes for patients diagnosed with MDS using a pictographical format that illustrates both the challenges patients face and the pressing need for development of novel therapies, as well as highlighting the potential for increased use of allogeneic stem cell transplant. This informational graphic may be useful for teaching or in counseling certain patients. PMID:26098015

  4. Restless legs syndrome: clinical presentation diagnosis and treatment.

    PubMed

    Wijemanne, Subhashie; Jankovic, Joseph

    2015-06-01

    Restless legs syndrome (RLS) is a circadian disorder of sensory-motor integration that may be related to genetically determined dysregulation of iron transport across the blood-brain barrier. Dopamine agonists (DAs) have been considered the first-line therapy, but with the growing appreciation of problems associated with long-term treatment, particularly augmentation and impulse control disorder, alpha-2-delta drugs, such as gabapentin, are now considered the first line of treatment in patients with troublesome RLS. Opioids can be considered as an alternative therapy, particularly in patients with DA-related augmentation. In more severe cases, a combination therapy may be required. Intravenous iron therapy may be considered on those patients with refractory RLS. PMID:25979181

  5. Clinical management of behavioral characteristics of Prader–Willi syndrome

    PubMed Central

    Ho, Alan Y; Dimitropoulos, Anastasia

    2010-01-01

    Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder. PMID:20505842

  6. Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome

    PubMed Central

    Vieira, Gustavo H.; Cook, Melissa M.; Ferreira De Lima, Renata L.; Frigério Domingues, Carlos E.; de Carvalho, Daniel R.; Soares de Paiva, Isaias; Moretti-Ferreira, Danilo; Srivastava, Anand K.

    2015-01-01

    Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS. Recently, mutations and possible pathogenetic rare CNVs, both affecting a few candidate genes for overgrowth, have been reported in patients with Sotos-like overgrowth features. To estimate the frequency of NSD1 defects in the Brazilian SoS population and possibly reveal other genes implicated in the etiopathogenesis of this syndrome, we collected a cohort of 21 Brazilian patients, who fulfilled the diagnostic criteria for SoS, and analyzed the NSD1 and PTEN genes by means of multiplex ligation-dependent probe amplification and mutational screening analyses. We identified a classical NSD1 microdeletion, a novel missense mutation (p.C1593W), and 2 previously reported truncating mutations: p.R1984X and p.V1760Gfs*2. In addition, we identified a novel de novo PTEN gene mutation (p.D312Rfs*2) in a patient with a less severe presentation of SoS phenotype, which did not include pre- and postnatal overgrowth. For the first time, our study implies PTEN in the pathogenesis of SoS and further emphasizes the existence of ethno-geographical differences in NSD1 molecular alterations between patients with SoS from Europe/North America (70-93%) and those from South America (10-19%). PMID:25852445

  7. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

    PubMed

    Knopp, C; Rudnik-Schöneborn, S; Zerres, K; Gencik, M; Spengler, S; Eggermann, T

    2015-01-01

    Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions. PMID:25339544

  8. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    PubMed Central

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  9. Clinical outcome of Fitz-Hugh-Curtis syndrome mimicking acute biliary disease

    PubMed Central

    Woo, Seong Yong; Kim, Jin Il; Cheung, Dae Young; Cho, Se Hyun; Park, Soo-Heon; Han, Joon-Yeol; Kim, Jae Kwang

    2008-01-01

    AIM: To analyze the clinical characteristics of patients diagnosed with Fitz-Hugh-Curtis syndrome. METHODS: The clinical courses of patients that visited St. Mary’s Hospital with abdominal pain from January 2005 to December 2006 and were diagnosed with Fitz-Hugh-Curtis syndrome were examined. RESULTS: Fitz-Hugh-Curtis syndrome was identified in 22 female patients of childbearing age; their mean age was 31.0 ± 8.1 years. Fourteen of these cases presented with pain in the upper right abdomen alone or together with pain in the lower abdomen, and six patients presented with pain only in the lower abdomen. The first impression at the time of visit was acute cholecystitis or cholangitis in 10 patients and acute appendicitis or pelvic inflammatory disease in eight patients. Twenty-one patients were diagnosed by abdominal computer tomography (CT), and the results of abdominal sonography were normal for 10 of these patients. Chlamydia trichomatis was isolated from 18 patients. Two patients underwent laparoscopic adhesiotomy and 20 patients were completely cured by antibiotic treatment. CONCLUSION: For women of childbearing age with acute pain in the upper right abdomen alone or together with pain in the lower abdomen, Fitz-Hugh-Curtis syndrome should be considered during differential diagnosis. Moreover, in cases suspected to be Fitz-Hugh-Curtis syndrome, abdominal CT, rather than abdominal sonography, assists in the diagnosis. PMID:19058334

  10. Treatment of a giant congenital melanocytic nevus in the adult: review of the current management of giant congenital melanocytic nevus.

    PubMed

    Su, Jeannie J; Chang, Daniel K; Mailey, Brian; Gosman, Amanda

    2015-05-01

    Giant congenital melanocytic nevi (GCMNs) create cosmetic disfigurements and pose risk for malignant transformation. Adult GCMN cases are uncommon because most families opt for surgical treatment during childhood. We review the current literature on GCMN and present an interesting case of an adult with a GCMN encompassing the entire back with painful nodules exhibiting gross involvement of his back musculature, without pathologic evidence of malignancy. Surgical management was deferred in childhood because of parental desires to allow the patient to make his own decision, and treatment in adulthood was pursued on the basis of the significant impairment of the patient's quality of life and self-esteem due to the massive size and deforming nature of the nevus. The treatment strategy used for this young adult male patient involved a massive en bloc excision of the GCMN with partial resection of the latissimus dorsi, followed by a 5-week staged reconstructive process using dermal regenerative matrices and split-thickness skin grafting. Because of the shift in GCMN management from early surgical management to more conservative management, we may see an increase in adult cases of GCMN. Thus, it is critical to better understand the controversy surrounding early versus delayed management of GCMN. PMID:25664413

  11. The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

    PubMed Central

    Kim, Gu-Hwan; Yoo, Han-Wook

    2015-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation. PMID:25510779

  12. The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

    PubMed

    Cheon, Chong Kun; Kim, Gu Hwan; Yoo, Han Wook

    2015-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation. PMID:25510779

  13. Clinical Trials: past, current and future for atypical parkinsonian syndromes

    PubMed Central

    Tsai, Richard M.; Boxer, Adam L.

    2016-01-01

    There are currently no effective, Food and Drug Administration (FDA) approved treatments for atypical parkinsonian disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), dementia with lewy bodies (DLB) or multiple system atrophy (MSA). Previous treatment trials for these disorders were focused on symptomatic support and did not affect disease progression. Recent breakthroughs in neuropathology and pathophysiology have allowed a new eunderstanding of these disorders and investigation into potentially disease modifying therapies. Randomized, placebo-controlled clinical trials of these disorders will be reviewed here. Suggestions for future therapeutic targets, clinical trial design, with a focus on PSP will also be provided. PMID:24963682

  14. The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

    PubMed Central

    Vandeweyer, Geert; Van der Aa, Nathalie; Reyniers, Edwin; Kooy, R. Frank

    2012-01-01

    Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. PMID:22608712

  15. Demographic and clinical correlates of metabolic syndrome in Native African type-2 diabetic patients.

    PubMed Central

    Isezuo, S. A.; Ezunu, E.

    2005-01-01

    OBJECTIVES: To describe the metabolic syndrome and its demographic and clinical correlates in native African type-2 diabetic patients. METHODS: Cross-sectional analysis of 254 type-2 diabetic indigenous Nigerians consecutively recruited in a teaching hospital. The main outcome measure was metabolic syndrome. Variables of interest included family history/duration of diabetes mellitus and hypertension, gender, socioeconomic class, occupation and place of domicile (urban or rural). Intergroup comparisons were made with Chi-squared tests or t-tests. RESULTS: Patients were aged 35-80 years (mean: 52.0 +/- 11.7 years) and made of 154 (60.6%) males and 100 (39.4%) females. Full-blown metabolic syndrome was noted in 52 patients (20.5%). Metabolic syndrome, as defined by the WHO, was noted in 150 patients (59.1%). About 72.4% of patients were dyslipidemic, 54.3% were hypertensive, 42.5% were obese, 44.9% were microalbuminuric and 32.3% were hyperuricemic. Ischemic heart disease (myocardial infarction) occurred in only 2.4% of patients. Concurrent hypertension and dyslipidemia; obesity and dyslipidemia; and hypertension and obesity occurred in 44.4%, 42.5% and 33.1% of type-2 diabetics, respectively. Compared to the diabetics without metabolic syndrome, those with the syndrome had a significantly higher proportion of patients with a family history of hypertension and diabetes (44% versus 25%; p = 0.003); among the upper/middle socioeconomic class: 52.0% versus 30.8% (p = 0.001); and among the urban dwelling: 68.0% versus 49.0% (p = 0.004). Metabolic syndrome was inversely proportional to the physical activity of an individual (chi2 = 21.69, df = 5, p = 0.001). Blood pressure was significantly higher among patients with metabolic syndrome than those without it (140.6 +/- 22.9/85.2 +/- 12.9 mmHg versus 126.9 +/- 15.4 mmHg; P < 0.01). CONCLUSIONS: The development of metabolic syndrome in African type-2 diabetic patients is influenced by demographic and clinical factors

  16. Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

    PubMed

    Hurren, Bradley J; Flack, Natasha A M S

    2016-07-01

    Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc. PMID:26749552

  17. The Diagnosis of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline

    PubMed Central

    Nieman, Lynnette K.; Biller, Beverly M. K.; Findling, James W.; Newell-Price, John; Savage, Martin O.; Stewart, Paul M.; Montori, Victor M.

    2008-01-01

    Objective: The objective of the study was to develop clinical practice guidelines for the diagnosis of Cushing's syndrome. Participants: The Task Force included a chair, selected by the Clinical Guidelines Subcommittee (CGS) of The Endocrine Society, five additional experts, a methodologist, and a medical writer. The Task Force received no corporate funding or remuneration. Consensus Process: Consensus was guided by systematic reviews of evidence and discussions. The guidelines were reviewed and approved sequentially by The Endocrine Society's CGS and Clinical Affairs Core Committee, members responding to a web posting, and The Endocrine Society Council. At each stage the Task Force incorporated needed changes in response to written comments. Conclusions: After excluding exogenous glucocorticoid use, we recommend testing for Cushing's syndrome in patients with multiple and progressive features compatible with the syndrome, particularly those with a high discriminatory value, and patients with adrenal incidentaloma. We recommend initial use of one test with high diagnostic accuracy (urine cortisol, late night salivary cortisol, 1 mg overnight or 2 mg 48-h dexamethasone suppression test). We recommend that patients with an abnormal result see an endocrinologist and undergo a second test, either one of the above or, in some cases, a serum midnight cortisol or dexamethasone-CRH test. Patients with concordant abnormal results should undergo testing for the cause of Cushing's syndrome. Patients with concordant normal results should not undergo further evaluation. We recommend additional testing in patients with discordant results, normal responses suspected of cyclic hypercortisolism, or initially normal responses who accumulate additional features over time. PMID:18334580

  18. Clinical Analysis of 56 Patients with Rhupus Syndrome: Manifestations and Comparisons with Systemic Lupus Erythematosus

    PubMed Central

    Li, Jing; Wu, Honghua; Huang, Xinxiang; Xu, Dong; Zheng, Wenjie; Zhao, Yan; Liu, Wanli; Zeng, Xiaofeng

    2014-01-01

    Abstract To investigate the clinical features of Rhupus syndrome, we retrospectively reviewed the medical records of 56 patients with Rhupus who were hospitalized at the Peking Union Medical College Hospital, Beijing, China, between January 2000 and March 2013. We analyzed the clinical manifestations of Rhupus syndrome and compared these with a control group of 160 randomly selected systemic lupus erythematosus (SLE) patients without coexisting rheumatoid arthritis (RA). In our center, 1.30% (56/4301) of hospitalized SLE patients had Rhupus syndrome. The median disease duration was 8.0 years and 83.9% had RA onset. All Rhupus patients showed radiological erosion in the joints. Compared with the control group, Rhupus patients had a longer disease duration, higher prevalence of anticyclic citrullinated peptide antibody and rheumatoid factor, higher incidence of symmetrical polyarthritis with more joint deformities and rheumatic nodules, and increased erythrocyte sediment rate and c-reactive protein levels (P < 0.005). In addition, a lower SLE disease activity index and incidences of malar rash, hemolytic anemia, renal and neurological involvement (P < 0.005), and hypocomplementemia (P < 0.05) was observed in the Rhupus group. Rhupus syndrome is rare in SLE patients. Most Rhupus patients had RA onset and a distinctive clinical profile characterized by more severe RA-associated and mild SLE-associated damage. Specific autoantibodies and imaging findings could be helpful for making accurate Rhupus diagnoses. PMID:25170930

  19. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

    PubMed

    Romeo Bertola, Débora; Honjo, Rachel S; Baratela, Wagner A R

    2016-04-01

    Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome. PMID:27194968

  20. Papillon–Lefèvre syndrome: clinical presentation and management options

    PubMed Central

    Sreeramulu, Basapogu; Shyam, Naragani DVN; Ajay, Pilla; Suman, Pathipaka

    2015-01-01

    Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth. Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options. PMID:26203280

  1. Papillon-Lefèvre syndrome: clinical presentation and management options.

    PubMed

    Sreeramulu, Basapogu; Shyam, Naragani Dvn; Ajay, Pilla; Suman, Pathipaka

    2015-01-01

    Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth. Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options. PMID:26203280

  2. Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

    PubMed Central

    Hepburn, Susan L.; Moody, Eric J.

    2015-01-01

    Assessing symptoms of autism in persons with known genetic syndromes associated with intellectual and/or developmental disability is a complex clinical endeavor. We suggest that a developmental approach to evaluation is essential to reliably teasing apart global impairments from autism-specific symptomology. In this chapter, we discuss our assumptions about autism spectrum disorders, the process of conducting a family-focused, comprehensive evaluation with behaviorally complex children and some implications for intervention in persons with co-occurring autism and known genetic syndromes. PMID:26269783

  3. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    ERIC Educational Resources Information Center

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  4. Scapular-focused treatment in patients with shoulder impingement syndrome: a randomized clinical trial.

    PubMed

    Struyf, F; Nijs, J; Mollekens, S; Jeurissen, I; Truijen, S; Mottram, S; Meeusen, R

    2013-01-01

    The purpose of this clinical trial is to compare the effectiveness of a scapular-focused treatment with a control therapy in patients with shoulder impingement syndrome. Therefore, a randomized clinical trial with a blinded assessor was used in 22 patients with shoulder impingement syndrome. The primary outcome measures included self-reported shoulder disability and pain. Next, patients were evaluated regarding scapular positioning and shoulder muscle strength. The scapular-focused treatment included stretching and scapular motor control training. The control therapy included stretching, muscle friction, and eccentric rotator cuff training. Main outcome measures were the shoulder disability questionnaire, diagnostic tests for shoulder impingement syndrome, clinical tests for scapular positioning, shoulder pain (visual analog scale; VAS), and muscle strength. A large clinically important treatment effect in favor of scapular motor control training was found in self-reported disability (Cohen's d = 0.93, p = 0.025), and a moderate to large clinically important improvement in pain during the Neer test, Hawkins test, and empty can test (Cohen's d 0.76, 1.04, and 0.92, respectively). In addition, the experimental group demonstrated a moderate (Cohen's d = 0.67) improvement in self-experienced pain at rest (VAS), whereas the control group did not change. The effects were maintained at three months follow-up. PMID:23053685

  5. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

    PubMed

    Germanaud, D; Rossi, M; Bussy, G; Gérard, D; Hertz-Pannier, L; Blanchet, P; Dollfus, H; Giuliano, F; Bennouna-Greene, V; Sarda, P; Sigaudy, S; Curie, A; Vincent, M C; Touraine, R; des Portes, V

    2011-03-01

    Since the first reports of polyglutamine-binding protein 1 (PQBP1) mutations in Renpenning syndrome and related disorders, the spectrum of PQBP1-linked clinical manifestations has been outlined from rare published case reports. The phenotypic description is often obtained from medical archives, and therefore, heterogeneous. Moreover, some aspects such as brain imaging or cognitive and behavioral functioning are rarely described. In this study, 13 PQBP1-mutated French patients were subjected to a standardized clinical, cognitive and behavioral assessment. Physical measurements of their relatives were also collected. We report on a recognizable clinical and radiological phenotype. All patients presented with microcephaly, leanness and mild short stature, relative to familial measurements. Three new clinical features are described: upper back progressive muscular atrophy, metacarpophalangeal ankylosis of the thumb and velar dysfunction. The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding ears and rough slightly sparse hair. An over-aged appearance was noticed in elderly patients. Cortical gyrification was normal based on available magnetic brain imaging of six patients. PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features. PMID:20950397

  6. Clinical course of sly syndrome (mucopolysaccharidosis type VII)

    PubMed Central

    Montaño, Adriana M; Lock-Hock, Ngu; Steiner, Robert D; Graham, Brett H; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Çoker, Mahmut; Bartholomew, Dennis; Sands, Mark S; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K; Ezgü, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E; Bhattacharya, Kaustuv; Franco, José; White, Klane K; Mitchell, Grant A; Cimbalistiene, Loreta; Holtz, Max; Sly, William S

    2016-01-01

    Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. Methods We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. Results We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. Conclusions MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity

  7. Tourette's syndrome: clinical features, pathophysiology, and therapeutic approaches.

    PubMed

    Müller, Norbert

    2007-01-01

    Tourette's syndrome (TS) is a disorder characterized by simple and complex motor tics, vocal tics, and frequently obsessive-compulsive symptoms. Its onset occurs before the age of 21. Typically, TS shows a waxing and waning course, but a chronification of the tics, even during later life, is often observed. TS mainly occurs in boys, and shows genetic heritability with differing penetrance. The pathological mechanism is still unclear Neuroanatomical and neuroimaging studies, as well as effective treatment using antipsychotics, suggest that a disturbance of the dopaminergic system in the basal ganglia plays an important role in the pathogenesis of TS. Several possibly causative mechanisms of the disturbed dopaminergic neurotransmission are discussed, with the main emphasis on the-infection-triggered-inflammatory immune process. Extrapyramidal movement disorders are known to occur as a symptom of poststreptococcal disease, such as in Sydenham's chorea. Cases of childhood TS are proposed to be caused by such a poststreptococcal mechanism, being part of a spectrum of childhood neurobehavioral disorders termed pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS). The overlap between TS and PANDAS is discussed, and a critical view of the PANDAS concept is presented. The therapeutic implications of the different pathological mechanisms are described, taking into consideration not only the acute or chronic natures of different infections, but also an autoimmune process. Moreover, therapeutic strategies using typical and atypical antipsychotics, and also experimental therapies such as repetitive transcranial magnetic stimulation and deep brain stimulation, are critically discussed. PMID:17726915

  8. The clinical and molecular spectrum of androgen insensitivity syndromes

    SciTech Connect

    Hiort, O.; Sinnecker, G.H.G.; Holterhus, P.M.; Nitsche, E.M.; Kruse, K.

    1996-05-03

    Androgen insensitivity syndromes (AIS) are due to end-organ resistance to androgenic steroids in males leading to defective virilization of the external genitalia. The phenotype encompasses a wide array of genital ambiguity and may range from completely female to undervirilized but unequivocally male with infertility. This disorder is caused by mutations of the androgen receptor and is an X-linked recessive trait. We have studied 47 patients with AIS and have characterized the underlying molecular abnormality in the androgen receptor gene. Twenty patients had complete AIS and twenty-seven had partial AIS. Of the latter, 11 were of predominantly female phenotypic appearance and gender was assigned accordingly, while 16 were raised as males. Within the group of complete AIS, two patients had gross deletions within the gene, one had a small deletion, and one had an insertion. In the other patients with complete AIS, as well as all individuals with partial AIS, single nucleotide substitutions within the coding region were detected, each leading to an amino acid alteration. Seven codons were involved in more than one mutation in different cases. In addition, in one patient with spinal and bulbar muscular atrophy, an elongation of a glutamine-repeat was characterized. We conclude that mutations in the androgen receptor gene may be present throughout the whole coding region. However, our study provides evidence that several mutational hot spots exist. 18 refs., 2 figs.

  9. [Duane's retraction syndrome--overview and diagnosis of clinical types].

    PubMed

    Otradovec, J

    2001-05-01

    The author presents a postgraduate review of the problem. In the introduction he reviews typical features of Duane's retraction syndrome (DS) and its main symptoms and reminds of the main approaches to classification: (1) Malbrane s (Duane I, II and III), (2) Huber's which is based on EMG findings in ZOS and (3) Kaufman's which classifies DS according to the enforced position of the head. The author maintains that even according to the above many atypical rare pictures cannot be classified or explained pathogenetically. Some are mentioned: (1) "Inverse" DS, which was recorded and documented by Chytilová-Divisová (1949) in a girl with congenital paralysis of abduction on both eyes retraction of the bulbus developed and narrowing of the palpebral aperture when attempting abduction (1) of the eye, (2) Bilateral acquired DS in a female patient with a tumour of the brain stem confirmed by EMG records of both horizontal muscles. (3) Unilateral DS in a child from a family with familial incidence of congenital ZOS fibrosis with an obscure ratio of the neurogenic and myogenic and fibrous component of the two pictures. In another member of this family the Marcus Gunn phenomenon was present. The latter findings support the idea that in the development of the fairly uniform picture of DS a combination of neurogenic, myogenic and connective tissue changes participate. PMID:11433591

  10. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

    PubMed

    Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton-Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angus; Barnicoat, Angela; Wallis, Colin; Hewitson, Rebecca; Offiah, Amaka; Saunders, Michael; Langton-Hewer, Simon; Hilliard, Tom; Davis, Peter; Smithson, Sarah

    2016-05-01

    Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development. © 2016 Wiley Periodicals, Inc. PMID:26971886

  11. Clinical frailty syndrome assessment using inertial sensors embedded in smartphones.

    PubMed

    Galán-Mercant, A; Cuesta-Vargas, A I

    2015-09-01

    The aim of this study was to identify the series of kinematic variables demonstrating the greatest precision in discriminating between the function of two groups of elderly persons (frail and non-frail) in the 10 m expanded timed up and go (ETUG) test using inertial sensors embedded in the iPhone 4(®). A cross-sectional study was conducted to identify the kinematic variables with the highest degree of precision in discriminating between the two groups. The predicted capability of the kinematic variables was evaluated using receiver operating characteristic curves. The sample comprised 30 participants over 65 years old, 14 frail and 16 non-frail, assessed for frailty syndrome using the Fried criteria. Acceleration variables discriminated between the participant groups in the study; specifically these were the peak negative acceleration variables for motion axes x, y and z. In terms of sensitivity, the values were greater than or equal to those for the variable traditionally used to discriminate in the ETUG test, namely time. The kinematic parameters obtained from the internal inertial sensors in the iPhone 4(®) are promising additions to the ETUG analysis. There are encouraging signs that the analyses of these parameters in the separate phases of the ETUG procedure offer the potential for improved discrimination between frail and non-frail individuals. However, further in-depth study is required to verify the findings. PMID:26245213

  12. Diogenes syndrome or isolated syllogomania? Four heterogeneous clinical cases.

    PubMed

    Zuliani, Giovanni; Soavi, Cecilia; Dainese, Anna; Milani, Paola; Gatti, Marino

    2013-08-01

    Diogenes syndrome (DS) is an acquired behavioural disturbance more often affecting elderly patients, but possible in all ages. It is characterised by social withdrawal, extreme self and house neglect, tendency to hoard any kind of objects/rubbish (syllogomania), and rejection against external help for lack of concern about one's condition. It is considered infrequent, but with quite high mortality. DS might be divided into several forms including Active (the patient gathers objects outside and accumulates them inside his house), Passive (patient invaded by his own rubbish), "à deux" (DS sharing between two people), and "under-threshold" (DS "blocked" by precocious intervention). Four cases are here presented. In case 1 (passive DS) alcoholism and cognitive impairment could be trigger factors for DS, predisposed by a "personality alteration". In case 2 (active, "à trois") superimposed psychosis could be the trigger, borderline intelligence being the predisposing factor. In case 3 (active), fronto-parietal internal hyperostosis might support an organic aetiology. Finally, case 4 was an example of isolated syllogomania in patient with evolving Alzheimer's dementia. Despite being heterogeneous, our casuistry suggest that DS can develop in both sexes, is prevalent in geriatric age and often associated with cognitive impairment/psychiatric disturbances, which are not specific, nor sufficient to justify DS. Isolated syllogomania only shares the characteristic hoarding with DS; although cognitive impairment might be present, the other DS typical aspects (social isolation, help refusal, characterial aspects, personal hygiene neglect) are absent. PMID:23846849

  13. Nondecussating retinal-fugal fiber syndrome: Clinical and neuroimaging clues to diagnosis

    PubMed Central

    Balani, Ankit; Kumar, Anjani D; Marda, Sapna S; Alwala, Surendar

    2015-01-01

    We report the clinical details and imaging findings for a case of nondecussating retinal-fugal fiber syndrome or isolated achiasma in a 4-year-old female child. Findings included the isolated absence of optic chiasm with unremarkable rest of the optic pathway and midline structures in a child presenting clinically with see-saw nystagmus. Clinically congenital see-saw nystagmus, “mirror reversal” of visual field representation and interocular ipsilateral asymmetry on monocular visual evoked potential point toward achiasma and warrant further evaluation with magnetic resonance imaging (MRI). Isolated achiasma is a rare condition that may remain undiagnosed unless MRI is done. PMID:26669340

  14. Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings

    PubMed Central

    Yadegari, Samira; Ghorbani, Askar; Dezfouli, Mitra Ansari

    2011-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented some rare features like upper motor neuron signs in one patient and two cases interestingly developed some clinical improvement. This is the first report of BVVLS from Iran. Our patients which represent Caucasian population had generally similar features like previously reported cases. PMID:24250848

  15. Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.

    PubMed

    Yadegari, Samira; Ghorbani, Askar; Dezfouli, Mitra Ansari; Nafissi, Shahriar

    2011-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented some rare features like upper motor neuron signs in one patient and two cases interestingly developed some clinical improvement. This is the first report of BVVLS from Iran. Our patients which represent Caucasian population had generally similar features like previously reported cases. PMID:24250848

  16. Clinical evaluation of Bilvadileha in the management of irritable bowel syndrome

    PubMed Central

    Tiwari, Ramanand; Pandya, Darshana H.; Baghel, Madhav Singh

    2013-01-01

    Irritable bowel syndrome (IBS) is one of the most common conditions encountered in clinical practice but one of the least well understood. Symptoms of this disorder are chronic, sometimes severe and often respond poorly to treatment, resulting in reduced quality of life. There is no specific test for IBS, although diagnostic tests may be performed to rule out other problems. In present clinical trial 51 patients of IBS were registered out of which 46 patients completed the treatment. Bilvadileha was administered for the duration of 12 weeks. The therapy showed statistically significant improvement in all the clinical features of IBS as well as in the IBS severity score. PMID:24696573

  17. Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes

    PubMed Central

    Halder, Ashutosh; Jain, Manish; Chaudhary, Isha; Gupta, Neerja; Kabra, Madhulika

    2013-01-01

    Background & objectives: Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval. Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis of microdeletion syndromes. This study was conducted to assess the role of FISH in the diagnosis of suspected microdeletion syndrome. Methods: FISH was carried out on 301 clinically suspected microdeletion syndrome cases for the confirmation of clinical diagnosis using non-commercial probes. Of these, 177 cases were referred for 22q11.2 microdeletion, 42 cases were referred for William syndrome, 38 cases were referred for Prader Willi/Angelman and 44 cases were referred for other suspected microdeletion syndromes. Results: FISH was confirmatory in 23 cases only (7.6%). There were 17 cases of 22q11.2 microdeletion, four cases of Prader Willi syndrome and two cases of William syndrome. Interpretation & conclusion: We conclude that FISH should not be the method of choice for clinically suspected microdeletion syndromes. We propose to follow strict clinical criteria for FISH testing or preferably to follow better methods (genotype first approach). Whole genome screening may be used as first line of test and FISH may be used for confirmation of screening result, screening of family members and prenatal diagnosis. PMID:24056568

  18. New developments in Silver-Russell syndrome and implications for clinical practice.

    PubMed

    Ishida, Miho

    2016-04-01

    Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver-Russell syndrome cases, while ~50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ~40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver-Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed. PMID:27066913

  19. Clinics in diagnostic imaging (159). Jejunal intussusception due to Peutz-Jeghers syndrome.

    PubMed Central

    Krishnan, Vijay; Chawla, Ashish; Wee, Eric; Peh, Wilfred CG

    2015-01-01

    A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed by characteristic histopathological appearances of Peutz-Jeghers polyps. PJS is a rare hereditary condition characterised by unique hamartomatous polyps, perioral mucocutaneous pigmentations, and increased susceptibility to gastrointestinal and extraintestinal neoplasms. Patients usually present with recurrent abdominal pain due to intussusception caused by polyps. Other modes of presentations include rectal bleeding and melaena. We describe the imaging findings of PJS and provide a brief review of bowel polyposis syndromes. The latter are relatively rare disorders characterised by multiple polyps in the large or small intestine, with associated risk of malignancies and other extraintestinal manifestations. Awareness of the manifestations and early diagnosis of these syndromes is crucial to prevent further complications. PMID:25715854

  20. The fourth-compartment syndrome: its anatomical basis and clinical cases.

    PubMed

    Hayashi, H; Kojima, T; Fukumoto, K

    1999-01-01

    We propose a new term, the "fourth-compartment syndrome" to describe chronic dorsal wrist pain of the fourth compartment. Five main causes responsible for this syndrome are thought to be as follows: 1. Ganglion involvement, including an occult ganglion; 2. Extensor digitorum brevis manus muscle; 3. Abnormal extensor indicis muscle; 4. Tenosynovialitis; 5. Anomaly or deformity of carpal bones. Should the above mentioned conditions occur in the fourth compartment, pressure within the fourth compartment increases, ultimately compressing the posterior interosseous nerve directly or indirectly. Anatomical studies of the fourth compartment of the wrist and the posterior interosseous nerve are presented and the fourth-compartment syndrome is summarized with twelve clinical cases (six cases of occult ganglions, two cases of extensor digitorum brevis manus, two cases of tenosynovialitis, one case of abnormal extensor indicis muscle, and one case of carpal bossing). PMID:10080065

  1. Down Syndrome and Malignancies: A Unique Clinical Relationship

    PubMed Central

    Xavier, Ana C.; Ge, Yubin; Taub, Jeffrey W.

    2009-01-01

    The patterns of malignancies in Down syndrome (DS) are unique and highlight the relationship between chromosome 21 and cancer. DS children have a ∼10- to 20-fold higher risk for developing acute lymphoblastic leukemia and acute myeloid leukemia (AML), as compared with non-DS children, although they do not have a uniformly increased risk of developing solid tumors. DS children with acute lymphoblastic leukemia frequently experience higher levels of treatment-related toxicity and inferior event-free survival rates, as compared with non-DS children. DS children also develop AML with unique features and have a 500-fold increased risk of developing the AML subtype, acute megakaryocytic leukemia (AMkL; M7). Nearly 10% of DS newborns are diagnosed with a variant of AMkL, the transient myeloproliferative disorder, which can resolve spontaneously without treatment; event-free survival rates for DS patients with AMkL ranges from 80% to 100%, in comparison with <30% for non-DS children with AMkL. In addition, somatic mutations of the GATA1 gene have been detected in nearly all DS TMD and AMkL cases and not in leukemia cases in non-DS children. GATA1 mutations are key factors linked to both leukemogenesis and the high cure rates of DS AMkL patients. Identifying the mechanisms that account for the high event-free survival rates of DS AMkL patients may ultimately improve AML treatment as well. Examining leukemogenesis in DS children may identify factors linked to the general development of childhood leukemia and lead to potential new therapeutic strategies to fight this disease. PMID:19710397

  2. Clinical care of adult Turner syndrome--new aspects.

    PubMed

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E; Cleemann, Line; Gravholt, Claus H

    2012-05-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular diseases, as well as the risk of type 2 diabetes, hypertension, osteoporosis, thyroid disease and other diseases. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. The transition period from paediatric to adult care seems to be especially vulnerable and the proper framework for transition has not yet been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries. Today, most treatment recommendations are based on expert opinion and are unfortunately not evidence based, although more areas, such as growth hormone and oxandrolone treatment for increasing height, are becoming well founded. Osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrine diseases and conditions are seen more frequently in TS. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most morbidity potentially is amenable to intervention. In summary, TS is a condition associated with a number of diseases and conditions which need the attention of a multi-disciplinary team during

  3. Ultrapulse carbon dioxide laser treatment of porokeratotic eccrine ostial and dermal duct nevus.

    PubMed

    Jain, Shalu; Sardana, Kabir; Garg, Vijay Kumar

    2013-01-01

    Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare, benign, cutaneous hamartoma. Approximately 45 cases of PEODDN have been reported, with little information regarding treatment. We report a patient with PEODDN treated successfully using an ultrapulse carbon dioxide laser. PMID:22339989

  4. [Clinical relevance of antidepressant-induced activation syndrome: from a perspective of bipolar spectrum disorder].

    PubMed

    Tanaka, Teruaki; Inoue, Takeshi; Suzuki, Katsuji; Kitaichi, Yuji; Masui, Takuya; Denda, Kenzo; Koyama, Tsukasa

    2007-01-01

    Recent concerns have been raised regarding whether antidepressants, especially selective serotonin reuptake inhibitors (SSRIs) might increase suicidal tendencies and intense debate-rages over the pros and cons of their use. Although systematic reviews and population-based studies have been conducted, a consensus on this association remains to be established. Subsequently, the concept of so-called 'activation syndrome' associated with antidepressants has been accepted without its adequate verification. In the present report, we present our experience of seven cases considered of having 'activation syndrome' brought on by antidepressants, and examine its clinical relevance to bipolar spectrum disorder (Ghaemi, et al., 2001) both symptomatologically and diagnostically. Five patients, diagnosed as having major depressive disorder according to the diagnostic manual (DSM-IV), met the criteria of bipolar spectrum disorder and suffered from activation syndrome following the administration of SSRIs, mainly paroxetine. Similarly, hypomania developed in all five cases with depression; the diagnostic criteria of a hypomanic episode were not met. In the remaining two patients, who were both diagnosed with bipolar disorder, one showed irritability and insomnia through imipramine use, and the another developed a hypomanic and/or a mixed state after the co-administration of fluvoxamine and trazodone. From the results of our examination, 'bipolarity', which is the pivotal factor of bipolar spectrum, might exist behind the phenomenon recognized as activation syndrome, and be revealed by antidepressant treatment, just like manic switching. Moreover, the various problems encountered in the current practice of treating mood disorders, including unipolar-bipolar dichotomy, manic switching by antidepressants, and narrow criteria for a mixed episode, were pointed out a new through this concept of activation syndrome. Actually, the understanding of activation syndrome clinically leads to

  5. Horner Syndrome in Children: A Clinical Condition with Serious Underlying Disease.

    PubMed

    Barrea, Christophe; Vigouroux, Tiphaine; Karam, Joe; Milet, Ariane; Vaessen, Sandrine; Misson, Jean-Paul

    2016-08-01

    Aim Horner syndrome corresponds to the clinical triad of miosis, ptosis, and facial anhidrosis. These symptoms are related to injury of the oculosympathetic chain. In children, Horner syndrome is classified as congenital or acquired. While the diagnosis is made through clinical examination, there is some debate regarding the use of imaging modalities and the extent of anatomical coverage required. Methods Here, we describe two cases of children with acute Horner syndrome. We then review the literature about the different etiology and discuss the interest of some investigations. Results Case 1: An 8-month-old girl without personal or familial history, has presented a right acquired Horner syndrome without additional signs. Frontal chest radiography and ultrasonography of the neck and the abdomen was first achieved and returned normal. The cerebral and cervical magnetic resonance imaging (MRI) with angiographic sequences performed in a second time was also normal. Finally, an enhanced thoracic computed tomography (CT)-scan demonstrated a mass at the right pulmonary apex. Case 2: A 9-year-old boy without personal or familial history has presented an acute headache with loss of consciousness during a basketball competition. Upon waking up, the child has right hemiplegia, aphasia, and left Horner syndrome. The cerebral CT scan realized in the first line was normal. The MRI with angiographic sequences demonstrated M1 left carotid dissection with homolateral white matter infarction. Conclusion Imaging studies seem critical in delineating the nature and extent of any underlying pathology along the oculosympathetic pathway in children presenting a Horner syndrome. In these patients, a history of trauma or surgery may reduce the need for extensive systemic evaluation. Without such anamnesis, a decision to proceed with further evaluation is made with consideration of the relative incidence of tumor, especially neuroblastoma, or other treatable lesions. In this

  6. Severe Rift Valley Fever May Present with a Characteristic Clinical Syndrome

    PubMed Central

    Kahlon, Summerpal S.; Peters, Clarence J.; LeDuc, James; Muchiri, Eric M.; Muiruri, Samuel; Njenga, M. Kariuki; Breiman, Robert F.; Clinton White, A.; King, Charles H.

    2010-01-01

    Rift Valley fever (RVF) virus is an emerging pathogen that is transmitted in many regions of sub-Saharan Africa, parts of Egypt, and the Arabian peninsula. Outbreaks of RVF, like other diseases caused by hemorrhagic fever viruses, typically present in locations with very limited health resources, where initial diagnosis must be based only on history and physical examination. Although general signs and symptoms of human RVF have been documented, a specific clinical syndrome has not been described. In 2007, a Kenyan outbreak of RVF provided opportunity to assess acutely ill RVF patients and better delineate its presentation and clinical course. Our data reveal an identifiable clinical syndrome suggestive of severe RVF, characterized by fever, large-joint arthralgia, and gastrointestinal complaints and later followed by jaundice, right upper-quadrant pain, and delirium, often coinciding with hemorrhagic manifestations. Further characterization of a distinct RVF clinical syndrome will aid earlier detection of RVF outbreaks and should allow more rapid implementation of control. PMID:20207858

  7. Approach to Clinical Syndrome of Jaundice and Encephalopathy in Tropics

    PubMed Central

    Anand, Anil C.; Garg, Hitendra K.

    2015-01-01

    A large number of patients present with jaundice and encephalopathy in tropical country like India and acute liver failure is the usual cause. Clinical presentation like ALF is also a complication of many tropical infections, and these conditions may mimic ALF but may have subtle differences from ALF. Moreover, what hepatologists see as acute liver failure in tropics is different from what is commonly described in Western Textbooks. Paracetamol overdose, which is possibly the commonest cause of ALF in UK and USA, is hardly ever seen in India. Most common etiology here is viral hepatitis (hepatitis E > hepatitis B> hepatitis A). Apart from ALF, one may also come across subacute hepatic failure (SAHF) as well as acute-on-chronic liver failure (ACLF) due to viral hepatitis. Interestingly, a host of other conditions can mimic ALF because clinical presentation in these conditions can be dominated by jaundice and encephalopathy. Malarial hepatopathy is possibly the best-known condition out of these and is not an uncommon manifestation of severe malaria. A similar presentation can also be seen in other common infections in tropics such as dengue fever, typhoid fever, leptospirosis, scrub typhus, amoebic liver abscesses, tuberculosis and other bacterial and fungal infections with or without human immunodeficiency virus (HIV) related disease. In many of these conditions, liver failure may not be underlying pathophysiology. Some pregnancy related liver diseases could also present with jaundice and encephalopathy. This review summarizes the commonly seen presentations in tropical country like India, where jaundice and encephalopathy dominate the clinical picture. PMID:26041951

  8. Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

    PubMed

    Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; Bowers, Naomi; Clayton-Smith, Jill; Newman, William G

    2015-12-01

    Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure, and a predisposition to allergies and eczema. There have been more than 150 individuals reported to have this diagnosis, but no unifying genetic alteration has been identified indicating genetic heterogeneity. We report on a pair of monozygotic twins diagnosed clinically with Dubowitz syndrome by Professor Dubowitz over 30 years ago and identified to have a de novo heterozygous 3.2-Mb deletion at 19q13.11q13.12. Exome sequencing did not identify either a putative pathogenic variant on the trans allele supporting recessive inheritance or any other causative sequence variants. Comparison of the phenotype in our cases shows considerable overlap with the 19q13.11 microdeletion syndrome, suggesting that a subset of individuals diagnosed with Dubowitz syndrome may be due to deletions at 19q13. Our finding further reinforces the genetic and phenotypic heterogeneity of Dubowitz syndrome. PMID:26377242

  9. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome

    PubMed Central

    Bianconi, Simona E.; Cross, Joanna L.; Wassif, Christopher A.; Porter, Forbes D.

    2015-01-01

    Introduction Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. Areas covered In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. Expert opinion Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials. PMID:25734025

  10. Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome.

    PubMed

    Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

    2015-01-01

    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype 'a' present only with cutaneous form and subtype 'b' also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

  11. CHILD syndrome in a boy

    SciTech Connect

    Happle, R.; Effendy, I., Megahed, M.; Orlow, S.J.; Kuester, W. |

    1996-03-15

    CHILD syndrome (congential hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because of the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait. 18 refs., 6 figs.

  12. Geriatric Syndromes: Clinical, Research and Policy Implications of a Core Geriatric Concept

    PubMed Central

    Inouye, Sharon K.; Studenski, Stephanie; Tinetti, Mary E.; Kuchel, George A.

    2008-01-01

    Geriatricians have embraced the term “geriatric syndrome”, using it extensively to highlight the unique features of common health conditions in the elderly. Geriatric syndromes, such as delirium, falls, incontinence and frailty, are highly prevalent, multifactorial, and associated with substantial morbidity and poor outcomes. Nevertheless, this central geriatric concept has remained poorly defined. This article reviews criteria for defining geriatric syndromes, and proposes a balanced approach of developing preliminary criteria based on peer-reviewed evidence. Based on a review of the literature, four shared risk factors—older age, baseline cognitive impairment, baseline functional impairment, and impaired mobility—were identified across five common geriatric syndromes (pressure ulcers, incontinence, falls, functional decline, and delirium). Understanding basic mechanisms involved in geriatric syndromes will be critical to advancing research and developing targeted therapeutic options. However, given the complexity of these multifactorial conditions, attempts to define relevant mechanisms will need to incorporate more complex models, including a focus on synergistic interactions between different risk factors. Finally, major barriers have been identified in translating research advances, such as preventive strategies of proven effectiveness for delirium and falls, into clinical practice and policy initiatives. National strategic initiatives are required to overcome barriers and to achieve clinical, research, and policy advances that will improve quality of life for older persons. PMID:17493201

  13. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

  14. [The post-discectomy syndrome: clinical and electroneuromyographic characteristics and methods of treatment].

    PubMed

    Musaev, A V; Guseĭnova, S G; Musaeva, I R

    2008-01-01

    The data of the Azerbaijan Neurosurgical Center, including 2618 case-reports of patients operated on for low back discal hernia between 1997 and 2002, have been analyzed. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented. PMID:18689008

  15. Validation of vaginal discharge syndrome among pregnant women attending obstetrics clinic, in the tertiary hospital of Western India

    PubMed Central

    Shah, Maitri; Deshmukh, Shetal; Patel, Sangita V.; Mehta, Kedar; Marfatia, Yogesh

    2014-01-01

    Introduction: Sexually transmitted infections (STIs) are major public health problem. The laboratory tests for diagnosing STI are often unavailable or too expensive. Therefore, World Health Organization has recommended a syndromic approach for diagnosis and management of STI/reproductive tract infections (RTIs). Very few studies so far had evaluated effectiveness of the syndromic approach in diagnosing STI/RTIs in pregnancy. Aims and Objectives: Validation of syndromic management for vaginal discharge syndrome in pregnancy. Materials and Methods: A cross-sectional study was carried out which included 233 pregnant females attending obstetric clinic. They were subjected to clinical examination, vaginal swab collection, and serological tests. Results: A total of 183 (78.54%) pregnant females had vaginal discharge on clinical examination and Candida albicans was the most common clinical diagnosis among them. Of 183 cases diagnosed clinically as vaginal discharge syndrome, 38 (20.7%) were tested positive in laboratory investigations. Out of 50 clinically negative cases, 9 (18%) were detected positive for one of the STIs on laboratory testing. Conclusion: Syndromic approach for management of vaginal discharge syndrome resulted in over-treatment of 78% (false positive) and under-diagnosis of 19.1% (false negative) pregnant females. Hence, integration of antenatal screening services in the form of laboratory tests for vaginal discharge is recommended. PMID:26396446

  16. Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.

    PubMed

    Neul, Jeffrey L; Glaze, Daniel G; Percy, Alan K; Feyma, Tim; Beisang, Arthur; Dinh, Thuy; Suter, Bernhard; Anagnostou, Evdokia; Snape, Mike; Horrigan, Joseph; Jones, Nancy E

    2015-11-01

    Rett syndrome is a genetically based neurodevelopmental disorder. Although the clinical consequences of Rett syndrome are profound and lifelong, currently no approved drug treatments are available specifically targeted to Rett symptoms. High quality outcome measures, specific to the core symptoms of a disorder are a critical component of well-designed clinical trials for individuals with neurodevelopmental disorders. The Clinical Global Impression Scale is a measure of global clinical change with strong face validity that has been widely used as an outcome measure in clinical trials of central nervous system disorders. Despite its favorable assay sensitivity in clinical trials, as a global measure, the Clinical Global Impression Scale is not specific to the signs and symptoms of the disorder under study. Development of key anchors for the scale, specific to the disorder being assessed, holds promise for enhancing the validity and reliability of the measure for disorders such as Rett syndrome. PMID:25895911

  17. Improving Treatment Trial Outcomes for Rett Syndrome: the development of Rett-specific anchors for the Clinical Global Impression Scale

    PubMed Central

    Neul, Jeff; Glaze, Daniel; Percy, Alan; Feyma, Tim; Beisang, Arthur; Dinh, Thuy; Suter, Bernhard; Anagnostou, Evdokia; Snape, Mike; Horrigan, Joseph; Jones, Nancy E.

    2015-01-01

    Rett syndrome is a genetically based neurodevelopmental disorder. While the clinical consequences of Rett syndrome are profound and life-long, currently no approved drug treatments are available specifically targeted to Rett symptoms. High quality outcome measures, specific to the core symptoms of a disorder are a critical component to well-designed clinical trials for individuals with neurodevelopmental disorders. The Clinical Global Impression Scale is a measure of global clinical change with strong face validity that has been widely used as an outcome measure in clinical trials of central nervous system disorders. Despite its favorable assay sensitivity in clinical trials, as a global measure, the Clinical Global Impression Scale is not specific to the signs and symptoms of the disorder under study. Development of key anchors for the scale, specific to the disorder being assessed, holds promise for enhancing the validity and reliability of the measure for disorders such as Rett syndrome. PMID:25895911

  18. National data elements for the clinical management of acute coronary syndromes.

    PubMed

    Chew, Derek P B; Allan, Roger M; Aroney, Constantine N; Sheerin, Noella J

    2005-05-01

    Patients with acute coronary syndromes represent a clinically diverse group and their care remains heterogeneous. These patients account for a significant burden of morbidity and mortality in Australia. Optimal patient outcomes depend on rapid diagnosis, accurate risk stratification and the effective implementation of proven therapies, as advocated by clinical guidelines. The challenge is in effectively applying evidence in clinical practice. Objectivity and standardised quantification of clinical practice are essential in understanding the evidence-practice gap. Observational registries are key to understanding the link between evidence-based medicine, clinical practice and patient outcome. Data elements for monitoring clinical management of patients with acute coronary syndromes have been adapted from internationally accepted definitions and incorporated into the National Health Data Dictionary, the national standard for health data definitions in Australia. Widespread use of these data elements will assist in the local development of "quality-of-care" initiatives and performance indicators, facilitate collaboration in cardiovascular outcomes research, and aid in the development of electronic data collection methods. PMID:15865580

  19. Clinical problems in patient with Ehlers-Danlos syndrome and Multiple Chemical Sensitivity undergoing total thyroidectomy

    PubMed Central

    PASTA, V.; D’ORAZI, V.; RUGGERI, L.; TONI, M.F.; URCIUOLI, P.; TELLAN, G.

    2015-01-01

    Clinical practice sometimes brings to face with situations quite peculiar, potentially dangerous for the patient’s life. In the great majority of cases, pathologies associated with each other (cardiovascular, respiratory, neurological), while in other cases we can treat rare diseases or syndromes. It’s considered exceptional the simultaneous presence of “rare” pathologies in a single patient. This exceptionality has been a push to treat a patient as a “unique” asking for help to deeper studies of pharmacogenetics. Our case reports the management of a patient with Ehlers-Danlos syndrome (EDS) and Multiple Chemical Sensitivity (MCS), undergoing a total thyroidectomy. We found several problems, and we tried to find effective solutions for the management of the patient during the whole peri-operative process, from a clinical, pharmacological and also from a surgical point of view. PMID:26712072

  20. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients.

    PubMed

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27322924

  1. Organophosphate intermediate syndrome with neurological complications of extrapyramidal symptoms in clinical practice

    PubMed Central

    Detweiler, Mark B.

    2014-01-01

    Organophosphates (OPs) are ubiquitous in the world as domestic and industrial agricultural insecticides. Intentional poisoning as suicides attempts are clinical phenomena seen in emergency departments and clinics in agricultural areas. Intermediate syndrome with the neurological complication of extra pyramidal symptoms following acute OP ingestion may occur in pediatric and adult cases. While death is the most serious consequence of toxic OP doses, low levels of exposure and nonfatal doses may disrupt the neurobehavioral development of fetuses and children in addition to bring linked to testicular cancer and male and female infertility. These are disturbing. Chronic and acute toxicity from OPs are barriers to the health of our present and future generations. Symptoms and treatment of acute and chronic OP exposure are briefly referenced with inclusion of the intermediate syndrome. Suggestions for local and systemic reduction of the acute and long term consequences of OP ingestion are opined. PMID:25002781

  2. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients.

    PubMed

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-08-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image. PMID:27483175

  3. Organophosphate intermediate syndrome with neurological complications of extrapyramidal symptoms in clinical practice.

    PubMed

    Detweiler, Mark B

    2014-07-01

    Organophosphates (OPs) are ubiquitous in the world as domestic and industrial agricultural insecticides. Intentional poisoning as suicides attempts are clinical phenomena seen in emergency departments and clinics in agricultural areas. Intermediate syndrome with the neurological complication of extra pyramidal symptoms following acute OP ingestion may occur in pediatric and adult cases. While death is the most serious consequence of toxic OP doses, low levels of exposure and nonfatal doses may disrupt the neurobehavioral development of fetuses and children in addition to bring linked to testicular cancer and male and female infertility. These are disturbing. Chronic and acute toxicity from OPs are barriers to the health of our present and future generations. Symptoms and treatment of acute and chronic OP exposure are briefly referenced with inclusion of the intermediate syndrome. Suggestions for local and systemic reduction of the acute and long term consequences of OP ingestion are opined. PMID:25002781

  4. Clinical problems in patient with Ehlers-Danlos syndrome and Multiple Chemical Sensitivity undergoing total thyroidectomy.

    PubMed

    Pasta, V; D'Orazi, V; Ruggeri, L; Toni, M F; Urciuoli, P; Tellan, G

    2015-01-01

    Clinical practice sometimes brings to face with situations quite peculiar, potentially dangerous for the patient's life. In the great majority of cases, pathologies associated with each other (cardiovascular, respiratory, neurological), while in other cases we can treat rare diseases or syndromes. It's considered exceptional the simultaneous presence of "rare" pathologies in a single patient. This exceptionality has been a push to treat a patient as a "unique" asking for help to deeper studies of pharmacogenetics. Our case reports the management of a patient with Ehlers-Danlos syndrome (EDS) and Multiple Chemical Sensitivity (MCS), undergoing a total thyroidectomy. We found several problems, and we tried to find effective solutions for the management of the patient during the whole peri-operative process, from a clinical, pharmacological and also from a surgical point of view. PMID:26712072

  5. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients

    PubMed Central

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-01-01

    Posterior reversible encephalopathy syndrome (PRES) is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI) is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image.

  6. Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

    PubMed

    Ponti, Giovanni; Tomasi, Aldo; Manfredini, Marco; Pellacani, Giovanni

    2016-05-10

    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers. PMID:26850131

  7. The Clinical Practice Guideline on Carpal Tunnel Syndrome and Workers' Compensation.

    PubMed

    Goldfarb, Charles A

    2016-06-01

    The American Academy of Orthopedic Surgeons has released an updated Clinical Practice Guideline (CPG) on the evaluation and treatment of carpal tunnel syndrome (CTS). In 2007, the initial CPG on CTS evaluated diagnosis and in 2008 and 2011, the CPG on CTS assessed treatment. The most recent CPG assesses both diagnosis and treatment in a generally non-controversial way. We assess the potential impact of this CPG on the care of workers compensation patients. PMID:27113907

  8. A mutation in the Cdon gene potentiates congenital nevus development mediated by NRAS(Q61K).

    PubMed

    Chitsazan, Arash; Ferguson, Blake; Ram, Ramesh; Mukhopadhyay, Pamela; Handoko, Herlina Y; Gabrielli, Brian; Soyer, Peter H; Morahan, Grant; Walker, Graeme J

    2016-07-01

    Congenital nevi develop before birth and sometimes cover large areas of the body. They are presumed to arise from the acquisition of a gene mutation in an embryonic melanocyte that becomes trapped in the dermis during development. Mice bearing the Cdk4(R24C) ::Tyr-NRAS(Q) (61K) transgenes develop congenital nevus-like lesions by post-natal day 10, from melanocytes escaping the confines of hair follicles. We interbred these mice with the collaborative cross (CC), a resource that enables identification of modifier genes for complex diseases (those where multiple genes are involved). We examined variation in nevus cell density in 66 CC strains and mapped a large-effect quantitative trait locus (QTL) controlling nevus cell density to murine chromosome 9. The best candidate for a gene that exacerbates congenital nevus development in the context of an NRAS mutation is Cdon, a positive regulator of sonic hedgehog (Shh) that is expressed mainly in keratinocytes. PMID:27155367

  9. Autoimmune Syndromes Presenting as a Paraneoplastic Manifestation of Myelodysplastic Syndromes: Clinical Features, Course, Treatment and Outcome.

    PubMed

    Williamson, Bradley T; Foltz, Lynda; Leitch, Heather A

    2016-05-10

    Autoimmune manifestations (AIM) are reported in up to 10-30% of myelodysplastic syndromes (MDS) patients; this association is not well defined. We present herein a retrospective chart review of single center MDS patients for AIM, a case discussion and a literature review. Of 252 MDS patients examined, 11 (4.4%) had AIM around MDS diagnosis. International Prognostic Scoring System scores were: low or intermediate (int)-1 (n=7); int-2 or high (n=4). AIM were: culture negative sepsis (n=7); inflammatory arthritis (n=3); vasculitis (n=4); sweats; pericarditis; polymyalgia rheumatica (n=2 each); mouth ulcers; pulmonary infiltrates; suspicion for Behcet's; polychondritis and undifferentiated (n=1 each). AIM treatment and outcome were: prednisone +/- steroid sparing agents, n=8, ongoing symptoms in 5; azacitidine (n=3), 2 resolved; and observation, n=1, ongoing symptoms. At a median follow up of 13 months, seven patients are alive. In summary, 4.4% of MDS patients presented with concomitant AIM. MDS should remain on the differential diagnosis of patients with inflammatory symptoms. PMID:27499837

  10. Autoimmune Syndromes Presenting as a Paraneoplastic Manifestation of Myelodysplastic Syndromes: Clinical Features, Course, Treatment and Outcome

    PubMed Central

    Williamson, Bradley T.; Foltz, Lynda; Leitch, Heather A.

    2016-01-01

    Autoimmune manifestations (AIM) are reported in up to 10-30% of myelodysplastic syndromes (MDS) patients; this association is not well defined. We present herein a retrospective chart review of single center MDS patients for AIM, a case discussion and a literature review. Of 252 MDS patients examined, 11 (4.4%) had AIM around MDS diagnosis. International Prognostic Scoring System scores were: low or intermediate (int)-1 (n=7); int-2 or high (n=4). AIM were: culture negative sepsis (n=7); inflammatory arthritis (n=3); vasculitis (n=4); sweats; pericarditis; polymyalgia rheumatica (n=2 each); mouth ulcers; pulmonary infiltrates; suspicion for Behcet’s; polychondritis and undifferentiated (n=1 each). AIM treatment and outcome were: prednisone +/- steroid sparing agents, n=8, ongoing symptoms in 5; azacitidine (n=3), 2 resolved; and observation, n=1, ongoing symptoms. At a median follow up of 13 months, seven patients are alive. In summary, 4.4% of MDS patients presented with concomitant AIM. MDS should remain on the differential diagnosis of patients with inflammatory symptoms.

  11. Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome)

    PubMed Central

    Chinawa, JM; Adimora, GN; Obu, HA; Tagbo, B; Ujunwa, F; Onubogu, I

    2012-01-01

    We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such information will help identify boys earlier in the course of their disease. This report is of a 7-year-old boy who presented to the children outpatient through a referral with a history of inability to grasp objects, inability to express self, and coarse skin, which started 5 years ago. On examination, he was short statured, with a big head, protruding abdomen, coarse skin, swollen wrist joints, and clubbed fingers. There was mild mental retardation. Investigations revealed mucopolysaccharides in urine ad radiographic findings were in keeping with diagnosis. Based on the clinical features and radiological findings, one can diagnose a case of MPS. However, careful and critical approach is necessary to exactly diagnose the type of MPS as enzymatic studies are not available in most centers. PMID:23209998

  12. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

    PubMed Central

    Weemaes, Corry MR; van Tol, Maarten JD; Wang, Jun; van Ostaijen-ten Dam, Monique M; van Eggermond, Marja CJA; Thijssen, Peter E; Aytekin, Caner; Brunetti-Pierri, Nicola; van der Burg, Mirjam; Graham Davies, E; Ferster, Alina; Furthner, Dieter; Gimelli, Giorgio; Gennery, Andy; Kloeckener-Gruissem, Barbara; Meyn, Stephan; Powell, Cynthia; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Shugar, Andrea; van den Elsen, Peter J; van der Maarel, Silvère M

    2013-01-01

    Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype–phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling. PMID:23486536

  13. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

    PubMed

    Abbas, Elham; Cox, Devin M; Smith, Teri; Butler, Merlin G

    2016-09-01

    We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11.23 microduplication. This microduplication syndrome is characterized by speech delay (91%), social anxiety (42%), attention deficit hyperactivity disorder (ADHD, 37%), autism spectrum disorder (29%), and separation anxiety (13%). Other findings include abnormal brain imaging (80%), congenital heart and vascular defects (54%), and mild intellectual disability (38%). We then compared the phenotype with Williams-Beuren syndrome (WBS) which is due to a deletion of the same chromosome region. Both syndromes have abnormal brain imaging, hypotonia, delayed motor development, joint laxity, mild intellectual disability, ADHD, autism, and poor visuospatial skills but opposite or dissimilar findings regarding speech and behavioral patterns, cardiovascular problems, and social interaction. Those with WBS are prone to have hyperverbal speech, lack of stranger anxiety, and supravalvular aortic stenosis while those with the 7q11.23 microduplication have speech delay, SM, social anxiety, and are prone to aortic dilatation. PMID:27617154

  14. Cooccurrence of Postural Orthostatic Tachycardia Syndrome with Two Different Clinical Entities

    PubMed Central

    Oztunc, Funda; Ugan Atik, Sezen; Dedeoglu, Reyhan; Gokalp, Selman

    2016-01-01

    Postural orthostatic tachycardia syndrome (POTS) is an abnormal heart rate response to a positional change. Several potential mechanisms for pathophysiology of POTS are defined. This syndrome can coexist with different clinical situations. In our report, the first case was a 13-year-old female who has been followed up for diagnosis of homocystinuria. She was admitted to our outpatient clinic with complaints of dizziness after suddenly moving from supine to upright position and chest pain after exercise. Tilt table test was performed to evaluate dizziness. According to the tilt table test the patient was diagnosed with POTS. The second case was a 17-year-old female who had been evaluated in different centers with the complaints of fainting, bruising, redness, and swelling on the hands and feet after moving from supine position to upright position during the last 4 years. Postural orthostatic tachycardia syndrome was diagnosed by tilt table test and ivabradine was started. Herein, we aimed to point out the cooccurrence of different clinical entities and POTS. PMID:27413567

  15. Duplication 2p25 in a child with clinical features of CHARGE syndrome.

    PubMed

    Sperry, Ethan D; Schuette, Jane L; van Ravenswaaij-Arts, Conny M A; Green, Glenn E; Martin, Donna M

    2016-05-01

    CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic variants in the gene encoding CHD7, a chromatin remodeling protein. Here, we present a 15-year-old girl with clinical features of CHARGE syndrome and a de novo 6.5 Mb gain of genomic material at 2p25.3-p25.2. The duplicated region contained 24 genes, including the early and broadly expressed transcription factor gene SOX11. Analysis of 28 other patients with CHARGE showed no SOX11 copy number changes or pathogenic sequence variants. To our knowledge, this child's chromosomal abnormality is unique and represents the first co-occurrence of duplication 2p25 and clinical features of CHARGE syndrome. We compare our patient's phenotype to ten previously published patients with isolated terminal duplication 2p, and elaborate on the clinical diagnosis of CHARGE in the context of atypical genetic findings. © 2016 Wiley Periodicals, Inc. PMID:26850571

  16. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

    PubMed

    Weemaes, Corry M R; van Tol, Maarten J D; Wang, Jun; van Ostaijen-ten Dam, Monique M; van Eggermond, Marja C J A; Thijssen, Peter E; Aytekin, Caner; Brunetti-Pierri, Nicola; van der Burg, Mirjam; Graham Davies, E; Ferster, Alina; Furthner, Dieter; Gimelli, Giorgio; Gennery, Andy; Kloeckener-Gruissem, Barbara; Meyn, Stephan; Powell, Cynthia; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Shugar, Andrea; van den Elsen, Peter J; van der Maarel, Silvère M

    2013-11-01

    Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype-phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling. PMID:23486536

  17. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

    PubMed

    Zhang, Kaihui; Liu, Shu; Feng, Bing; Yang, Yali; Zhang, Haiyan; Dong, Rui; Liu, Yi; Gai, Zhongtao

    2016-01-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental disomy (UPD) and imprinting defects. Both disorders are difficult to be definitely diagnosed at early age if no available molecular cytogenetic tests. In this study, we identified 5 AS patients with the maternal deletion and 26 PWS patients with paternal deletion on chr15q11-q13 by using an innovative multiplex-fluorescent-labeled short tandem repeats (STRs) assay based on linkage analysis, and validated by the methylation-specific PCR and array comparative genomic hybridization techniques. More interesting, one of these PWS patients was confirmed as maternal uniparental isodisomy by the STR linkage analysis. The phenotypic and genotypic characteristics of these individuals were also presented. Our results indicate that the new linkage analysis is much faster and easier for large-scale screening deletion and uniparental disomy, thus providing a valuable method for early diagnosis of PWS/AS patients, which is critical for genetic diagnosis, management and improvement of prognosis. PMID:26841067

  18. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

    PubMed Central

    Feng, Bing; Yang, Yali; Zhang, Haiyan; Dong, Rui; Liu, Yi; Gai, Zhongtao

    2016-01-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental disomy (UPD) and imprinting defects. Both disorders are difficult to be definitely diagnosed at early age if no available molecular cytogenetic tests. In this study, we identified 5 AS patients with the maternal deletion and 26 PWS patients with paternal deletion on chr15q11-q13 by using an innovative multiplex-fluorescent-labeled short tandem repeats (STRs) assay based on linkage analysis, and validated by the methylation-specific PCR and array comparative genomic hybridization techniques. More interesting, one of these PWS patients was confirmed as maternal uniparental isodisomy by the STR linkage analysis. The phenotypic and genotypic characteristics of these individuals were also presented. Our results indicate that the new linkage analysis is much faster and easier for large-scale screening deletion and uniparental disomy, thus providing a valuable method for early diagnosis of PWS/AS patients, which is critical for genetic diagnosis, management and improvement of prognosis. PMID:26841067

  19. Clinical Presentation of Inadvertent Intrathecal Vincristine Masquerading Guillain-Barre Syndrome.

    PubMed

    Saha, Agni Sekhar; Islam, Md Fekarul; Bhattacharya, Sukanta; Giri, Prabhas Prasun

    2016-06-01

    Vincristine, a potent chemotherapeutic agent, is highly neurotoxic. If given intrathecally by accident it is almost always fatal. We are reporting a 6 year old girl with acute lymphoblastic leukaemia in complete remission, who was given inadvertent intrathecal Vincristine instead of Methotrexate. She developed gradually progressive quadriplegia and respiratory paralysis requiring prolonged mechanical ventilation, initially mimicking Guillain-Barre Syndrome, both clinically and electro-physiologically. She also developed progressive encephalopathy. The clinical deterioration subsequently plateaued without any significant improvement and after more than 5 months, she finally expired. PMID:27408356

  20. Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus.

    PubMed Central

    Obrador, S; Soto, M; Silvela, J

    1975-01-01

    Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

  1. Patients reporting ritual abuse in childhood: a clinical syndrome. Report of 37 cases.

    PubMed

    Young, W C; Sachs, R G; Braun, B G; Watkins, R T

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. Patients came from a variety of separate clinical settings and geographical locations and reported a number of similar abuses. The most frequently reported types of ritual abuse are outlined, and a clinical syndrome is presented which includes dissociative states with satanic overtones, severe post-traumatic stress disorder, survivor guilt, bizarre self abuse, unusual fears, sexualization of sadistic impulses, indoctrinated beliefs, and substance abuse. Questions relating to issues of reliability, credibility and verifiability are addressed in depth, and the findings and implications are discussed. PMID:2043970

  2. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  3. Guillain-Barré syndrome in Cantabria, Spain. An epidemiological and clinical study.

    PubMed

    Sedano, M J; Calleja, J; Canga, E; Berciano, J

    1994-04-01

    Seventy-one patients with Guillain-Barré syndrome (GBS) were retrospectively selected from within a defined area (Cantabria) in northern Spain, from 1975 to 1988. Excluding two non-resident cases, epidemiological analysis was based on 69 cases. The annual incidence rates were stable during the 14-year period of study with an average incidence of 0.95 (age-adjusted, 0.86) cases per 100,000 population. No significant difference was found for sex, urban or rural residence and there was no significant seasonal clustering. Antecedent event were recorded in 57% of patients, the most frequent events being upper respiratory infection and gastroenteritis. No association between use of gangliosides and the syndrome was found. Eight patients had variant syndromes including Fisher's syndrome (2 cases), and axonal (4 cases) and sensory (2 cases) GBS. Recurrences occurred in 3 cases. Excluding nine patients with incomplete follow-up and two with Fisher's syndrome, clinical analysis was based on 60 cases. Patients were divided into three groups as a function of their peak weakness. Significant features of the severe group were a requirement for ventilation, presence of bulbar palsy or dysautonomia and a longer duration of the plateau phase. However, it was not possible at an early stage of the clinical course to predict future motor deficit. Four (6.7%) patients belonging to the severe group died during the acute phase of the disease. No specific treatment for GBS was given. Outcome was assessed by means of serial examination up to 24 months after the onset of symptoms using a functional scale. At 3, 6 and 24 months 70%, 46% and 12% of patients, respectively, had a poor outcome.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8042448

  4. Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome

    PubMed Central

    Lin, Ying; Gao, Hongbin; Ai, Siming; Eswarakumar, Jacob V.P.; Li, Tao; Liu, Bingqian; Jiang, Hongye; Liu, Yuhua; Liu, Xialin; Li, Yonghao; Ni, Yao; Chen, Jiangna; Lin, Zhuoling; Liang, Xiaoling; Jin, Chenjin; Huang, Xinhua; Lu, Lin; Liu, Yizhi

    2016-01-01

    Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak-like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811-812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of our knowledge, the

  5. Antiphospholipid syndrome in 2014: more clinical manifestations, novel pathogenic players and emerging biomarkers

    PubMed Central

    2014-01-01

    The clinical spectrum of the anti-phospholipid syndrome (APS) is not limited to vascular thrombosis or miscarriages but includes additional manifestations that cannot be explained solely by a thrombophilic state. Anti-cardiolipin, anti-beta2 glycoprotein I (anti-β2GPI) and lupus anticoagulant (LA) assays are not only the formal diagnostic and classification laboratory tools but also parameters to stratify the risk to develop the clinical manifestations of the syndrome. In particular, anti-β2GPI antibodies reacting with an immunodominant epitope on domain I of the molecule were reported as the prevalent specificity in APS patients, correlating with a more aggressive clinical picture. Several laboratory assays to improve the diagnostic and predictive power of the standard tests have been proposed. Plates coated with the phosphatidylserine-prothrombin complex for detecting antibodies represent a promising laboratory tool correlating with LA and with clinical manifestations. Anti-phospholipid antibodies can be found in patients with full-blown APS, in those with thrombotic events or obstetric complications only or in asymptomatic carriers. An inflammatory second hit is required to increase the presence of β2GPI in vascular tissues, eventually triggering thrombosis. Post-transcriptional modifications of circulating β2GPI, different epitope specificities or diverse anti-β2GPI antibody-induced cell signaling have all been suggested to affect the clinical manifestations and/or to modulate their occurrence. PMID:25166960

  6. Nodding syndrome in Ugandan children—clinical features, brain imaging and complications: a case series

    PubMed Central

    Idro, Richard; Opoka, Robert Opika; Aanyu, Hellen T; Kakooza-Mwesige, Angelina; Piloya-Were, Theresa; Namusoke, Hanifa; Musoke, Sarah Bonita; Nalugya, Joyce; Bangirana, Paul; Mwaka, Amos Deogratius; White, Steven; Chong, Kling; Atai-Omoruto, Anne D; Mworozi, Edison; Nankunda, Jolly; Kiguli, Sarah; Aceng, Jane Ruth; Tumwine, James K

    2013-01-01

    Objectives Nodding syndrome is a devastating neurological disorder of uncertain aetiology affecting children in Africa. There is no diagnostic test, and risk factors and symptoms that would allow early diagnosis are poorly documented. This study aimed to describe the clinical, electrophysiological and brain imaging (MRI) features and complications of nodding syndrome in Ugandan children. Design Case series. Participants 22 children with nodding syndrome brought to Mulago National Referral Hospital for assessment. Outcome measures Clinical features, physical and functional disabilities, EEG and brain MRI findings and a staging system with a progressive development of symptoms and complications. Results The median age of symptom onset was 6 (range 4–10) years and median duration of symptoms was 8.5 (range 2–11) years. 16 of 22 families reported multiple affected children. Physical manifestations and complications included stunting, wasting, lip changes and gross physical deformities. The bone age was delayed by 2 (range 1–6) years. There was peripheral muscle wasting and progressive generalised wasting. Four children had nodding as the only seizure type; 18 in addition had myoclonic, absence and/or generalised tonic–clonic seizures developing 1–3 years after the onset of illness. Psychiatric manifestations included wandering, aggression, depression and disordered perception. Cognitive assessment in three children demonstrated profound impairment. The EEG was abnormal in all, suggesting symptomatic generalised epilepsy in the majority. There were different degrees of cortical and cerebellar atrophy on brain MRI, but no hippocampal changes. Five stages with worsening physical, EEG and brain imaging features were identified: a prodrome, the development of head nodding and cognitive decline, other seizure types, multiple complications and severe disability. Conclusions Nodding syndrome is a neurological disorder that may be characterised as probably

  7. Clinical Approach to a Suspected Case of First Branchial Arch Syndrome

    PubMed Central

    Nakamura, Shiho; Nishigaki, Soichiro; Yanagita, Ken-ichi; Nonaka, Kazuaki

    2014-01-01

    First branchial arch syndrome is a congenital disorder characterized by a wide spectrum of anomalies in the first branchial arch, mainly affecting the lower jaw, ear, or mouth, during early embryonic development. We sought to confirm a suspected case of this syndrome by making differential diagnosis and taking an intensive clinical approach. A 12-year-6-month-old girl with a horizontally impacted left canine in the maxilla had the history of digital fusion in her hands and feet and has been suffering from hearing impairment of her left ear. To diagnose this case and make her careful treatment plan, we further carried out cephalometric analysis and mutation analysis. Her face looks like asymmetry and is not apparently symmetric by cephalometric analysis. Mutation analysis of the patient was conducted by direct DNA sequencing of the goosecoid gene, which is an excellent candidate for determination of hemifacial microsomia, but no changes in this gene were identified. We could not precisely diagnose this case as first branchial arch syndrome. However, certain observations in this case, including hearing impairment of the left ear, allow us to suspect this syndrome. PMID:24523735

  8. Long-term outcome of patients with POEMS syndrome: An update of the Mayo Clinic experience.

    PubMed

    Kourelis, Taxiarchis V; Buadi, Francis K; Kumar, Shaji K; Gertz, Morie A; Lacy, Martha Q; Dingli, David; Go, Ronald S; Kapoor, Prashant; Lust, John A; Hayman, Suzanne R; Hwa, Yi; Rajkumar, S Vincent; Zeldenrust, Steven R; Russell, Stephen J; Lin, Yi; Leung, Nelson; Kyle, Robert A; Gonsalves, Wilson I; Dispenzieri, Angela

    2016-06-01

    Over the past decade, a number of changes have occurred in the diagnostic evaluation, management, and long-term follow-up of patients with POEMS syndrome at our institution. This study included 291 patients with POEMS syndrome diagnosed at the Mayo Clinic between 1974 and 2014. Patients diagnosed after 2003 had more features of the syndrome identified at diagnosis and were more likely to receive an autologous transplant (49% versus 8%, P < 0.0001) and to have achieved a hematologic complete response (CR) to treatment (41% vs 25%, P < 0.0001). With 2273 person-years of follow-up, 10-year overall survival (OS) was 62% (95% C.I., 56%, 67%). On multivariate analysis, the three factors associated with superior OS were younger age (RR 0.98 [0.96-1.00]), albumin greater-than 3.2 g/dL (RR 0.5 [0.32-0.89]) and attainment of complete hematologic response (RR 0.4 [0.2, 0.9]). This study confirms the very good long-term outcomes of patients with POEMS syndrome and identifies two new prognostic risk factors: albumin at diagnosis and attainment of complete hematologic response. Am. J. Hematol. 91:585-589, 2016. © 2016 Wiley Periodicals, Inc. PMID:26972803

  9. Chinese Herbal Medicine for Functional Abdominal Pain Syndrome: From Clinical Findings to Basic Understandings

    PubMed Central

    Liu, Tao; Wang, Ning

    2016-01-01

    Functional abdominal pain syndrome (FAPS) is one of the less common functional gastrointestinal disorders. Conventional therapy has unsatisfactory response to it so people turn to Chinese medicine for help. Currently, we reviewed the whole picture of Chinese herbal medicine (CHM) clinical and basic application in the treatment of FAPS, especially the traditional Chinese medicine (TCM) syndrome, the single herb, and Chinese medicine formulae, thus to provide a solid base to further develop evidence-based study for this common gastrointestinal complaint in the future. We developed the search strategy and set the inclusion and exclusion criteria for article search. From the included articles, we totally retrieved 586 records according to our searching criteria, of which 16 were duplicate records and 291 were excluded for reasons of irrelevance. The full text of 279 articles was retrieved for detailed assessment, of which 123 were excluded for various reasons. The number one used single herb is Radix Ginseng. The most common syndrome was liver qi depression. The most frequently used classic formula was Si-Mo-Tang. This reflected the true situation of clinical practice of Chinese medicine practitioners and could be further systematically synthesized as key points of the therapeutic research for FAPS. PMID:27366194

  10. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

    PubMed

    Castori, M; Morlino, S; Sana, M E; Paradisi, M; Tadini, G; Angioni, A; Malacarne, M; Grammatico, P; Iascone, M; Forzano, F

    2016-08-01

    Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Extensive molecular studies of both patients excluded mutations in all the known genes associated with PPK and partially overlapping syndromes. The striking similarities between these two patients confirm PPKCA2 as a discrete genodermatosis, of which the main features are congenital and universal alopecia, diffuse keratosis pilaris, facial erythema, and a specific PPK with predominant involvement of the fingertips and borders of the hands and feet, with evolution of sclerodactyly, contractures and constrictions. Clinical follow-up of these patients has demonstrated progressive worsening of the hand involvement and attenuation of facial erythema. PMID:27339777

  11. Multiple chemical sensitivity syndrome: a clinical perspective. II. Evaluation, diagnostic testing, treatment, and social considerations.

    PubMed

    Sparks, P J; Daniell, W; Black, D W; Kipen, H M; Altman, L C; Simon, G E; Terr, A I

    1994-07-01

    Multiple chemical sensitivity syndrome (MCS) does not appear to fit established principles of toxicology. Social, political, and economic forces are demanding that MCS be defined medically, even though scientific studies have failed as yet to identify pathogenic mechanisms for the condition or any objective diagnostic criteria. Consequently, a working definition of MCS can only rely on a person's subjective symptoms of distress and attribution to environmental exposures rather than currently measurable objective evidence of disease. Nevertheless, patients labeled with MCS are clearly distressed and many are functionally disabled. Without reconciling the different theories of etiology of MCS discussed in Part I of this report, and recognizing that the cause of the syndrome may be multifactorial, strategies are proposed for clinical evaluation and management of patients with MCS using a biopsychosocial model of illness. The social implications of this illness are also discussed. PMID:7931737

  12. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B.

    PubMed

    Kalaskar, Ritesh Rambharos; Godhane, Alkesh; Kalaskar, Ashita; Demble, Swati

    2016-01-01

    Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall's classification of oromandibular limb hypogenesis syndrome (OLHS) which best describes hypoglossia and limb deformities. Therefore, the purpose of this article is to document the rare variant of OLHS which can be included in Hall's classification. How to cite this article: Kalaskar RR, Godhane A, Kalaskar A, Demble S. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B. Int J Clin Pediatr Dent 2016;9(1):78-81. PMID:27274161

  13. Clinical manifestation of Hurler syndrome in a 7 year old child.

    PubMed

    Sharma, S; Sabharwal, J R; Datta, P; Sood, S

    2012-01-01

    Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. An interesting case of a seven year old boy with a combination of skeletal, neurological, ophthalmologic, oro-dental and radiological findings of this diverse and devastating clinical entity with MPS I-(Hurler syndrome) has been presented here in this case report. PMID:22557905

  14. Clinical Use of Diuretics in Heart Failure, Cirrhosis, and Nephrotic Syndrome

    PubMed Central

    Qavi, Ahmed Hassaan; Kamal, Rida; Schrier, Robert W.

    2015-01-01

    Diuretics play significant role in pharmacology and treatment options in medicine. This paper aims to review and evaluate the clinical use of diuretics in conditions that lead to fluid overload in the body such as cardiac failure, cirrhosis, and nephrotic syndrome. To know the principles of treatment it is essential to understand the underlying pathophysiological mechanisms that cause the need of diuresis in the human body. Various classes of diuretics exist, each having a unique mode of action. A systemic approach for management is recommended based on the current guidelines, starting from thiazides and proceeding to loop diuretics. The first condition for discussion in the paper is cardiac failure. Treatment of ascites in liver cirrhosis with spironolactone as the primary agent is highlighted with further therapeutic options. Lastly, management choices for nephrotic syndrome are discussed and recommended beginning from basic sodium restriction to combined diuretic therapies. Major side effects are discussed. PMID:26294976

  15. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.

    PubMed

    Abdelhadi, Ola; Iancu, Daniela; Stanescu, Horia; Kleta, Robert; Bockenhauer, Detlef

    2016-01-01

    EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients. In addition we review the pathophysiology and genetic aspects of the disease. So far 14 different KCNJ10 mutations have been published which either directly affect channel function or may lead to mislocalisation. Investigations of the pathophysiology may provide clues to potential treatments. PMID:27500072

  16. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

    PubMed Central

    Iancu, Daniela; Stanescu, Horia

    2016-01-01

    ABSTRACT EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients. In addition we review the pathophysiology and genetic aspects of the disease. So far 14 different KCNJ10 mutations have been published which either directly affect channel function or may lead to mislocalisation. Investigations of the pathophysiology may provide clues to potential treatments. PMID:27500072

  17. Perspectives on the clinical significance of functional pain syndromes in children

    PubMed Central

    Basch, Molly C; Chow, Erika T; Logan, Deirdre E; Schechter, Neil L; Simons, Laura E

    2015-01-01

    Functional pain syndromes (FPS) characterize a subset of individuals who experience pain and related symptoms and disability without clear structural or disease etiology. In the pediatric population, FPS hold high clinical importance due to significant prevalence rates and potential to persist into adulthood. Although extensive research has been executed to disambiguate FPS, the syndromes that fall within its spectrum remain conceptually complex and sometimes ill-defined. This paper provides an overview of available research on the classification and multifaceted etiology of FPS in youth and their effects on interpersonal, psychological, and familial function. Vital aspects of a successful multidisciplinary approach to treating this population are described; however, it is evident that future research requires more longitudinal studies. PMID:26504406

  18. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B

    PubMed Central

    Godhane, Alkesh; Kalaskar, Ashita; Demble, Swati

    2016-01-01

    ABSTRACT Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall’s classification of oromandibular limb hypogenesis syndrome (OLHS) which best describes hypoglossia and limb deformities. Therefore, the purpose of this article is to document the rare variant of OLHS which can be included in Hall’s classification. How to cite this article: Kalaskar RR, Godhane A, Kalaskar A, Demble S. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B. Int J Clin Pediatr Dent 2016;9(1):78-81. PMID:27274161

  19. Clinical responses to rituximab in a case of neuroblastoma with refractory opsoclonus myoclonus ataxia syndrome.

    PubMed

    Alavi, Samin; Kord Valeshabad, Ali; Moradveisi, Borhan; Aminasnafi, Ali; Arzanian, Mohammad Taghi

    2012-01-01

    Opsoclonus myoclonus ataxia syndrome (OMS) is a rare neurologic syndrome. In a high proportion of children, it is associated with neuroblastoma. The etiology of this condition is thought to be immune mediated. In children, immunotherapy with conventional treatments such as corticosteroids, intravenous immunoglobulin, adrenocorticotropic hormone, and even antiepileptic drugs has been tried. Recently rituximab has been used safely for refractory OMS in children with neuroblastoma. Our patient was a 3.5-year-old girl referred for ataxia and dancing eye movements starting since 1.5 years ago. She was diagnosed with neuroblastoma on imaging studies on admission. The OMS was refractory to surgical resection, chemotherapy, corticosteroids, and intravenous immunoglobulin. Patient received rituximab simultaneously with chemotherapy. The total severity score decreased by 61.1% after rituximab. Patient's ataxia markedly improved that she was able to walk independently after 6 months. Our case confirmed the clinical efficacy and safety of rituximab in a refractory case of OMS. PMID:23198199

  20. Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients.

    PubMed

    Choi, H S; Park, Y J; Youk, E G; Yoon, K A; Ku, J L; Kim, N K; Kim, S M; Kim, Y J; Moon, D J; Min, J S; Park, C J; Bae, O S; Yang, D H; Jun, S H; Chung, E S; Jung, P M; Whang, Y; Park, J G

    2000-02-01

    Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction, and bleeding. Recently an increased risk of malignancies has also been reported. This study was initiated to determine the clinical features of Peutz-Jeghers syndrome in Korean patients, with special attention to the development of malignancies. Thirty patients with Peutz-Jeghers syndrome were investigated; their median age was 23.5 years, and symptoms appeared at a median age of 12.5 years. Family history was positive in one-half of cases, and mucocutaneous pigmentation was observed in almost all patients (93%). The jejunoileum was the most frequent site of the polyps, and there were generally 10-100 polyps. Multiple laparotomies were performed in a substantial portion of the patients, due mainly to polyp-induced bowel obstruction, and the surgical interventions were begun at a relatively young age (average 21.4 years). Four cases of small-bowel cancer and one case of breast cancer were detected in probands, at a relatively young age (mean 36 years). Cancers of the small bowel, stomach, colon, breast and cervix were diagnosed in the first relatives of the probands. Close follow-up from an early age should thus be performed in patients with Peutz-Jeghers syndrome as they are at high risk of surgical emergency and development of malignancy. PMID:10766089

  1. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

    PubMed

    Zarate, Yuri A; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A

    2016-08-01

    Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc. PMID:27264197

  2. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

    PubMed

    Hackmann, Karl; Rump, Andreas; Haas, Stefan A; Lemke, Johannes R; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Kuechler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M; Di Donato, Nataliya

    2016-01-01

    The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12. PMID:26358559

  3. Ethical and Legal Aspects of Conducting Clinical Trials in Alcohol Withdrawal Syndrome

    PubMed Central

    R, Harsha

    2014-01-01

    Alcohol Withdrawal Syndrome (AWS) is a condition where the patients will be mentally unstable initially and where later, with therapy, they gradually return to normalcy. As AWS comprises two stages; a mentally unstable state and a normal state of mind, the ethical and legal issues behind recruitment of these subjects become a little ambiguous in a clinical trial. This study was taken up to clarify the uncertainty regarding the biphasic states of minds (i.e. unstable mind and sound mind) of the subjects who were involved in a clinical trial done on AWS. Law and ethics regarding the clinical trials which involve psychiatric subjects need to be strengthened and amended from time to time, in order to protect the interests of both patients and physicians. PMID:24995195

  4. Hypertrichotic Giant Nevus Spilus Tardivus and Neurofibroma of the Tongue in Sporadic von Recklinghausen's Disease

    PubMed Central

    Ramakrishnan, Prabhath; Sylvester, Vijay; Vengalath, Janisha; Valambath, Smruthi

    2014-01-01

    Solitary neurofibromas are rare, benign tumours of nonodontogenic origin. The presentation of a solitary neurofibroma on the tongue is an uncommon occurrence and we present such a case here which was discovered in concomitance with multiple neurofibromatosis type 1 (von Recklinghausen's disease). Such a rare presentation seen in this case is a diagnostic challenge and often clinched only with the aid of histopathological and immunohistochemical examination. This work also discusses the various differential diagnoses that can be considered in similar cases. The presence of a hypertrichotic “giant” nevus spilus tardivus (Becker's nevus) is also a rare finding in this particular case. We present such a case which will be of interest to the budding dental practitioner. The lesion was excised and the patient followed up without any evidence of malignant transformation. PMID:25478247

  5. Treatment of Divided Nevus of the Penis with Circumcision and Free Inner Prepuce Grafting

    PubMed Central

    Li, Zhi-Bin; Liu, Tun; Zhang, Qing-Guo

    2015-01-01

    Summary: Divided nevus of the penis is exceedingly rare. Desruelles et al. reported the first divided nevus on the penis in 1998, and, since then, only 17 cases have been reported in the English language literature. This article presents the successful excision and histopathologic evaluation of the nevi. The glans was reconstructed by a full-thickness skin graft using remnant foreskin. Six months after the operation, the patient showed no deformity of the glans and no loss of sensation. The lesion on the glans can be successfully reconstructed using the remnant foreskin with satisfactory aesthetic and functional outcome. This method is desirable with minimal donor-site morbidity and inconspicuous donor-site scars. PMID:26090279

  6. Resolution of vitiligo following excision of halo congenital melanocytic nevus: a rare case report.

    PubMed

    Wang, Kai; Wang, Zhi; Huang, Weiqing

    2016-05-01

    Halo congenital melanocytic nevus (CMN) associated with vitiligo is rare, especially with regard to CMN excision. Only two reports of excision of halo CMN following repigmentation of vitiligo are found in the literature. We present a case of a girl with halo CMN and periorbital vitiligo. The halo CMN was excised and followed by spontaneous improvement of vitiligo. The result suggests excision of the inciting lesion may be a promising way to control vitiligo. PMID:26627472

  7. Adult onset unilateral systematized porokeratotic eccrine ostial and dermal duct nevus: a case report.

    PubMed

    Bandoyopadhyay, Debabrata; Saha, Abanti

    2014-06-01

    Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is an uncommon, benign dermatosis that is characterized by asymptomatic grouped keratotic papules and plaques with a linear pattern on the extremities with distinct porokeratotic histopathological features. The lesions usually appear at birth or in childhood, although rare cases of late-onset adult PEODDN have been described. Herein we report a case of adult onset PEODDN with unilateral and segmental involvement. PMID:24945650

  8. Operationalization of the physical frailty & sarcopenia syndrome: rationale and clinical implementation.

    PubMed

    Marzetti, E; Calvani, R; Cesari, M; Tosato, M; Cherubini, A; Di Bari, M; Pahor, M; Savera, G; Collamati, A; D'Angelo, E; Bernabei, R; Landi, F

    2015-12-01

    Over the years, different operational definitions have been elaborated to identify frail older persons, but none of them has received unanimous consensus. This, in turn, has hampered the clinical implementation of frailty as well as the design of targeted interventions. To overcome the current limitations in the field, a novel operationalization of physical frailty (PF) is proposed which grounds its roots in the recognition of sarcopenia as its central biological substrate. This conceptualization is based on the fact that the clinical picture of PF overlaps substantially with that of sarcopenia. The two conditions may therefore be merged into a new clinical entity, the PF & sarcopenia (PF&S) syndrome, in which muscle loss represents both the biological substrate for the development of PF and a major pathway whereby the negative health outcomes of PF occur. All of the components defining the PF&S syndrome are measurable in an objective manner, which will facilitate its incorporation into standard practice. The recognition of a precise biological substratum for PF&S (i.e., skeletal muscle decline) also opens new venues for the development of preventive and therapeutic interventions. PMID:27042430

  9. The clinical and genetic features of the COPD asthma overlap syndrome

    PubMed Central

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J. R.; Make, Barry J.; Crapo, James D.; Silverman, Edwin K.; Hersh, Craig P.

    2014-01-01

    Background Individuals with COPD and asthma are an important but poorly characterized group. The genetic determinants of COPD-asthma overlap have not been studied. Objective Identify clinical features and genetic risk factors for COPD-asthma overlap. Methods Subjects were current or former smoking non-Hispanic whites (NHW) or African-Americans (AA) with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the NHW and AA populations, and combined these results in a meta-analysis. Results More women and African Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema, and greater airway wall thickness compared to subjects with COPD alone. The NHW GWAS identified SNPs in CSMD1 (rs11779254, P=1.57×10−6) and SOX5(rs59569785, P=1.61×10−6) and the meta-analysis identified SNPs in the gene GPR65 (rs6574978, P=1.18×10−7) associated with COPD-asthma overlap. Conclusions Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD-asthma overlap is an important syndrome and may require distinct clinical management. PMID:24876173

  10. Fat embolism syndrome: Clinical and imaging considerations: Case report and review of literature

    PubMed Central

    Shaikh, Nissar; Parchani, Ashok; Bhat, Venkatraman; Kattren, Marie Anne

    2008-01-01

    Fat embolism syndrome (FES) is a serious clinical disorder occurring after trauma, orthopedic procedures and rarely in non-traumatic patients. Fat emboli develop in nearly all patients with bone fractures, but they are usually asymptomatic. Small number of patients develop signs and symptoms of various organ system dysfunction due to either mechanical obstruction of capillaries by fat emboli or due to hydrolysis of fat to fatty acids. A triad of lung, brain and skin involvement develop after an asymptomatic period of 24 to 72 hours. This symptom complex is called FES. The incidence reported is up to 30%, but many mild cases may recover unnoticed. Diagnosis of fat embolism is clinical with nonspecific, insensitive diagnostic test results. Treatment of fat embolism syndrome remains supportive and in most cases can be prevented by early fixation of large bone factures. Here we report two cases of traumatic fat embolism, which were diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearance on magnetic resonance imaging (MRI) of the brain in these patients. These patients were successfully treated with supportive management. In conclusion, diagnosis of FES needs high index of suspicion, exclusion of other conditions and use of clinical criteria in combination with imaging. Magnetic resonance imaging of the brain is of great importance in diagnosis and management of these patients. PMID:19826589

  11. Operationalization of the physical frailty & sarcopenia syndrome: rationale and clinical implementation

    PubMed Central

    Marzetti, E.; Calvani, R.; Cesari, M.; Tosato, M.; Cherubini, A.; Di Bari, M.; Pahor, M.; Savera, G.; Collamati, A.; D’Angelo, E.; Bernabei, R.; Landi, F.

    2015-01-01

    Over the years, different operational definitions have been elaborated to identify frail older persons, but none of them has received unanimous consensus. This, in turn, has hampered the clinical implementation of frailty as well as the design of targeted interventions. To overcome the current limitations in the field, a novel operationalization of physical frailty (PF) is proposed which grounds its roots in the recognition of sarcopenia as its central biological substrate. This conceptualization is based on the fact that the clinical picture of PF overlaps substantially with that of sarcopenia. The two conditions may therefore be merged into a new clinical entity, the PF & sarcopenia (PF&S) syndrome, in which muscle loss represents both the biological substrate for the development of PF and a major pathway whereby the negative health outcomes of PF occur. All of the components defining the PF&S syndrome are measurable in an objective manner, which will facilitate its incorporation into standard practice. The recognition of a precise biological substratum for PF&S (i.e., skeletal muscle decline) also opens new venues for the development of preventive and therapeutic interventions. PMID:27042430

  12. Natural history and long-term clinical behavior of segmental colitis associated with diverticulosis (SCAD syndrome).

    PubMed

    Freeman, Hugh J

    2008-09-01

    Localized inflammation of the sigmoid colon or segmental colitis associated with diverticulosis (SCAD syndrome) is an increasingly recognized, apparently uncommon, clinical and pathological disorder usually described in older adults. In the present study, 24 symptomatic patients, including 14 males, (58.3%) and 10 females (41.7%) were evaluated over a 20-year period with follow-up intervals ranging from 2 to 16 years. In most, initial clinical symptoms appeared after age 40 years and included rectal bleeding, diarrhea, and abdominal pain. Most (21 of 24, over 80%) initially responded with long-term resolution of their disease after treatment only with a 5-aminosalicylate. In addition, however, spontaneous remissions without any form of drug therapy were documented. In some, persistent, chronically active disease or true episodic recurrences were seen, leading to use of corticosteroids and/or resective surgery. Evidence here also suggested that colonic neoplasia, including adenoma development and cancer, were not related to the presence of this uniquely localized mucosal inflammatory process defined within the sigmoid colon. This study documents the natural history and long-term clinical behavior of this unusual segmental inflammatory process, associated with diverticulosis, and provides additional strong evidence that the SCAD syndrome is very distinct and can be readily separated from other forms of chronic inflammatory bowel disease. PMID:18338265

  13. Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

    PubMed Central

    Jacquemont, Sébastien; Hagerman, Randi J.; Leehey, Maureen; Grigsby, Jim; Zhang, Lin; Brunberg, James A.; Greco, Claudia; Des Portes, Vincent; Jardini, Tristan; Levine, Richard; Berry-Kravis, Elizabeth; Brown, W. Ted; Schaeffer, Stephane; Kissel, John; Tassone, Flora; Hagerman, Paul J.

    2003-01-01

    We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation–associated tremor/ataxia syndrome and distinguishes it from other movement disorders. PMID:12638084

  14. Repurposing of Clinically Developed Drugs for Treatment of Middle East Respiratory Syndrome Coronavirus Infection

    PubMed Central

    Dyall, Julie; Coleman, Christopher M.; Hart, Brit J.; Venkataraman, Thiagarajan; Holbrook, Michael R.; Kindrachuk, Jason; Johnson, Reed F.; Olinger, Gene G.; Jahrling, Peter B.; Laidlaw, Monique; Johansen, Lisa M.; Lear-Rooney, Calli M.; Glass, Pamela J.; Hensley, Lisa E.

    2014-01-01

    Outbreaks of emerging infections present health professionals with the unique challenge of trying to select appropriate pharmacologic treatments in the clinic with little time available for drug testing and development. Typically, clinicians are left with general supportive care and often untested convalescent-phase plasma as available treatment options. Repurposing of approved pharmaceutical drugs for new indications presents an attractive alternative to clinicians, researchers, public health agencies, drug developers, and funding agencies. Given the development times and manufacturing requirements for new products, repurposing of existing drugs is likely the only solution for outbreaks due to emerging viruses. In the studies described here, a library of 290 compounds was screened for antiviral activity against Middle East respiratory syndrome coronavirus (MERS-CoV) and severe acute respiratory syndrome coronavirus (SARS-CoV). Selection of compounds for inclusion in the library was dependent on current or previous FDA approval or advanced clinical development. Some drugs that had a well-defined cellular pathway as target were included. In total, 27 compounds with activity against both MERS-CoV and SARS-CoV were identified. The compounds belong to 13 different classes of pharmaceuticals, including inhibitors of estrogen receptors used for cancer treatment and inhibitors of dopamine receptor used as antipsychotics. The drugs identified in these screens provide new targets for in vivo studies as well as incorporation into ongoing clinical studies. PMID:24841273

  15. Clinical evaluation of Ashokarishta, Ashwagandha Churna and Praval Pishti in the management of menopausal syndrome

    PubMed Central

    Modi, Mansi B.; Donga, Shilpa B.; Dei, Laxmipriya

    2012-01-01

    Menopause is a gradual and natural transitional phase of adjustment between the active and inactive ovarian function and occupies several years of a women's life and involves biological and psychological changes adjustments. The present clinical trial was designed as per Ayurveda clinical trials protocol to evaluate the efficacy of Ashokarishta, Ashwagandha Churna and Praval Pishti in the management of menopausal syndrome. It was directed by Central Council for Research in Ayurvedic Sciences as randomized open clinical trial. Total 52 patients were registered in the study, out of which 51 patients completed the study. Specialized rating scales like Kupperman Index Score as well as Menopause Rating Scale (MRS) and Menopause Specific Quality of Life (MENQOL) questionnaires were adopted for diagnostic as well as assessment criteria. The effects were examined based on MRS and MENQOL. Results were analyzed statistically using Wilcoxon matched paired test and ‘t’ test. Highly significant (P < 0.01) reduction was found in the symptoms of MRS as well as MENQOL. Finally, it can be stated that combined treatment of above drugs gives better result in both somatic as well as psychological complaints in women with mild to moderate symptoms of menopausal syndrome. PMID:23723668

  16. Diagnostic Accuracy of Behavioral, Activity, Ferritin, and Clinical Indicators of Restless Legs Syndrome

    PubMed Central

    Richards, Kathy C.; Bost, James E.; Rogers, Valerie E.; Hutchison, Lisa C.; Beck, Cornelia K.; Bliwise, Donald L.; Kovach, Christine R.; Cuellar, Norma; Allen, Richard P.

    2015-01-01

    Study Objectives: Lack of a valid diagnostic measure of restless legs syndrome (RLS) for persons with dementia, who do not have the cognitive ability to report complex symptoms, impedes RLS treatment and research in this population. The aim of this study was to determine the sensitivity and specificity of a combination of indicators for identifying RLS that could eventually be used to diagnose RLS in persons with dementia. Design: 3-day, prospective instrument validation. Setting: Sleep laboratory. Participants: Cognitively intact, 107 with RLS, 105 without RLS. Interventions: N/A. Measurements: Serial 20-min observations with a new measure, the Behavioral Indicators Test–Restless Legs (BIT-RL); leg movements with 3 nights of the Periodic Activity Monitor–Restless Legs (PAM-RL); ferritin; sleep history; clinical data; polysomnography; Hopkins Telephone Diagnostic Interview of RLS Symptoms. Results: The best-fitting diagnostic model for identifying RLS included previous history of iron deficiency (odds ratio [OR] 7.30), leg discomfort (OR 6.47), daytime fatigue (OR 6.15), difficulty falling asleep (OR 3.25), RLS family history (OR 2.60), BIT-RL (OR 1.49), and absence of diabetes (OR 0.27), with sensitivity 78%, specificity 79%, and 77% correctly classified. This model retained its predictive accuracy even with co-morbid sleep apnea. Conclusions: When compared to those without restless legs syndrome (RLS), persons with RLS have observable behaviors, such as rubbing the legs, that differentiate them, but the behaviors have no circadian and activity-related variability. The final model of clinical and sleep historical data and observation for RLS behaviors using the Behavioral Indicators Test–Restless Legs had good diagnostic accuracy. Citation: Richards KC, Bost JE, Rogers VE, Hutchison LC, Beck CK, Bliwise DL, Kovach CR, Cuellar N, Allen RP. Diagnostic accuracy of behavioral, activity, ferritin, and clinical indicators of restless legs syndrome. SLEEP 2015

  17. Papillary thyroid cancer in a young woman affected by giant congenital melanocytic nevus, ultrasound diagnosis.

    PubMed

    Manganaro, L; Onesti, M G; Sergi, M E; Vinci, V; Maruccia, M; Soda, G; Marini, M

    2011-01-01

    Data literatures report numerous association between giant congenital nevus and development alteration; only two cases describe its coexistence with thyroid disorders. However, we report the association of papillary thyroid cancer and giant congenital nevus. Papillary thyroid cancer is the most common differentiated thyroid cancer and has high prevalence in young women. In this paper we report: the case of a 18 years-old woman, affected by giant congenital melanocytic nevus on her back, who came to our observation because of one month of fever and increased volume of latero-cervical lymph nodes. Negative serologic tests allowed us to exclude lymphoma and mononucleosis. Because of the high risk (6%) that giant congenital melanocytic nevi could transform into malignant melanoma, we performed an ultrasound examination (US) of the cervical lymph nodes. The examination extended to the thyroid gland enabled us to visualize the same parenchyma alteration in both thyroid gland and lymph nodes. At last, fine-needle percoutaneus aspiration on thyroid lesion confirmed the presence of papillary carcinoma. In our case, thank to the optimal visualization of the parenchyma structure, US was diriment allowing a diagnosis of primitive thyroid lesion with an involvement of all lymph nodes in the neck. This findings legitimate the role of US as an accurate, noninvasive, radiation free and low-cost imaging technique in detecting differential diagnosis in the cervical lymphadenopathy, as well in preoperative staging thyroid carcinoma. PMID:22041799

  18. Zika Virus: New Clinical Syndromes and Its Emergence in the Western Hemisphere.

    PubMed

    Lazear, Helen M; Diamond, Michael S

    2016-05-15

    Zika virus (ZIKV) had remained a relatively obscure flavivirus until a recent series of outbreaks accompanied by unexpectedly severe clinical complications brought this virus into the spotlight as causing an infection of global public health concern. In this review, we discuss the history and epidemiology of ZIKV infection, recent outbreaks in Oceania and the emergence of ZIKV in the Western Hemisphere, newly ascribed complications of ZIKV infection, including Guillain-Barré syndrome and microcephaly, potential interactions between ZIKV and dengue virus, and the prospects for the development of antiviral agents and vaccines. PMID:26962217

  19. Neuroleptic-induced Parkinson's syndrome: clinical features and results of treatment with levodopa.

    PubMed Central

    Hardie, R J; Lees, A J

    1988-01-01

    Twenty six consecutive patients with neuroleptic-induced Parkinson's syndrome (NIPS) are described. Their median age was 61 years, 60% were female, and most had received chronic neuroleptic medication for psychiatric indications. The clinical features were indistinguishable from idiopathic Parkinson's disease, except for the presence of co-existing orofacial chorea, limb dyskinesia or akathisia which provided an aetiological clue in 11 cases. Complete resolution of NIPS occurred in only two patients, one of whom later developed Parkinson's disease. Sixteen patients were treated with 300-1000 mg levodopa/benserazide for up to 4 years with few adverse effects but therapeutic response was disappointing. PMID:2900293

  20. Medical devices for restless legs syndromeclinical utility of the Relaxis pad

    PubMed Central

    Mitchell, Ulrike H

    2015-01-01

    Restless Legs Syndrome or Willis–Ekbom Disease, a neurosensory disorder, can be treated with pharmaceuticals or conservatively. This review focuses on conservative treatments, more specifically on treatments with medical devices. Two modes of action, enhancement of circulation and counter stimulation, are introduced. Medical devices that use enhancement of circulation as their mechanism of action are whole body vibration, pneumatic compression, and near-infrared light. Medical devices that use counter stimulation include transcutaneous electrical nerve stimulation and the vibration Relaxis pad. The clinical utility of the Relaxis pad and its place in therapy is proposed. PMID:26664128