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Sample records for nevus syndrome clinical

  1. Epidermal nevus syndromes.

    PubMed

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  2. Epidermal nevus syndrome.

    PubMed

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  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. Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome.

    PubMed

    Hsieh, Chih-Wei; Wu, Yu-Hung; Lin, Shuan-Pei; Peng, Chun-Chih; Ho, Che-Sheng

    2012-01-01

    SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.

  5. Basal cell nevus syndrome: a case report.

    PubMed

    Ocholla, T J; Guthua, S W; Kimaro, S S

    1994-11-01

    A case is reported of a 13 year old Kenyan girl who presented at the Kenyatta National Hospital Dental Clinic with multiple mandibular and maxillary cysts, cutaneous lesions and mandibular prognathism. This combination of clinical and radiographic features led to a diagnosis of basal cell nevus syndrome. This paper is the first reported case of the syndrome in Kenya. The significance of thorough clinical inspection and radiographic screening of suspected cases is discussed. PMID:7859664

  6. Blue rubber bleb nevus syndrome

    PubMed Central

    Carr, Michele M.; Jamieson, Christopher G.; Lal, Geeta

    1996-01-01

    Blue rubber bleb nevus syndrome, an uncommon condition, is manifested by gastrointestinal and skin hemangiomas and gastrointestinal hemorrhage causing anemia. The authors report a unique case of the syndrome in association with a congenital cardiac malformation. A 26-year-old woman presented with iron-deficiency anemia after the birth of her first child. She had a history of skin and gastrointestinal hemangiomas and tetralogy of Fallot. Endoscopy revealed multiple new intestinal hemangiomas, which were removed through enterotomies with resolution of the anemia. Iron therapy was prescribed, and her condition was stable at follow-up 5 years later. PMID:8599795

  7. Epidermal nevus syndrome associated with hypophosphatemic rickets.

    PubMed

    Moreira, Ana Isabel; Ferreira, Graça; Santos, Mafalda; Baptista, Armando; Ferreira, Eduarda Osório

    2010-01-01

    Epidermal Nevus Syndrome (ENS) is characterized by epidermal nevi associated with abnormalities involving the nervous, skeletal, and other systems. Rarely, hypophosphatemic rickets has been observed in association with epidermal nevi. A patient with ENS with right-sided serpiginous skin lesions, generalized weakness, and diffuse osteopenia associated with hypophosphatemic rickets is described. Medical management was enough to correct the clinical picture. The pathogenic mechanism involved in the onset of hypophosphatemic rickets in ENS is not fully clarified. Different studies suggest that phosphaturia, caused by circulating factor(s), called "phosphatonin(s)," may be secreted by an epidermal nevus. The nature of the phosphaturic factor(s) is not well understood, but elevated levels of circulating FGF-23 were recently reported in one patient with hypophosphatemic rickets. The authors suggest that serum FGF-23 measurement be included in the workup of this kind of rickets because there is growing evidence that in these situations the epidermal nevi produce a phosphaturic factor. PMID:20875335

  8. Complex limbal choristoma in nevus sebaceous syndrome.

    PubMed

    Nema, Nitin; Singh, Kuldeep; Verma, Amit

    2012-01-01

    Excision of an epibulbar choristoma followed by amniotic membrane grafting was performed on a 3-month-old baby who presented with nevus sebaceous syndrome. Upon histopathologic examination, the excised mass was seen to be a complex choristoma, a rare ocular tumor. Amniotic membrane transplantation is currently the most acceptable modality of treatment of limbal choristoma, with good cosmetic outcome.

  9. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. PMID:26564075

  10. Calcified scleral choristoma in organoid nevus syndrome simulating retinoblastoma.

    PubMed

    Shields, Charlotte Nelle; Shields, Carol L; Lin, Chris J; Menacker, Sheryl J; Shields, Jerry A

    2014-01-14

    A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the mass was of choroidal or scleral origin, underlying the retina. The amelanotic circumpapillary mass extended superonasally in a geographic configuration and measured 14×12 mm. There was no subretinal fluid, hemorrhage, feeder vessels, or tumor seeding. Ocular ultrasonography confirmed a homogeneous calcified intraocular mass 3.1 mm in thickness. Enhanced depth imaging optical coherence tomography revealed that the lesion was located within the sclera compressing the overlying choroidal tissue. Further evaluation disclosed cutaneous aplasia cutis congenita with nevus sebaceous of Jadassohn. Magnetic resonance imaging disclosed an arachnoid cyst of the brain. Later, optical coherence tomography revealed the mass to be in the deep choroid or within the sclera. This constellation of ocular, cutaneous, and neurological features were suggestive of organoid nevus syndrome. At the 2-year follow-up, the findings were stable. The calcified choristoma of organoid nevus syndrome, located within the sclera in this case, has distinctive clinical features that differentiate this benign tumor from retinoblastoma.

  11. 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

  12. [Blue rubber bleb nevus syndrome: A case report].

    PubMed

    López-Ugalde, M V; Cazares-Méndez, M J; Vivar-Aquino, L D; Cadena-León, J F; Cervantes-Bustamante, R; Zárate-Mondragón, F; Montijo-Barrios, E; Ramírez-Mayans, J

    2012-01-01

    Blue Rubber Bleb Nevus Syndrome (BRBS) is a rare disease, characterized by multiple vascular malformations in the skin and gastrointestinal tract. Other organs can also be affected, presenting different clinical manifestations such as arthralgia, epistaxis, hemoptysis, hematuria, hemothorax, mild thrombocytopenia, consumptive coagulopathy, and bone deformities, among others. We present a case of BRBS in a nine-year-old boy with the characteristic clinical manifestations of punctated purplish-blue skin lesions that vary in size and gastrointestinal vascular malformations with upper digestive tract bleeding.

  13. Blitz Nevus: A Clinical Simulator of Melanoma.

    PubMed

    Alonso-Corral, M Jose; Ruiz-Villaverde, Ricardo; Sánchez-Cano, Daniel; Pulido-Fernández, Francisco

    2016-01-01

    A 17-year-old adolescent girl attended our clinic for a scheduled review of her nevus lesions. She complained about a lesion on the posterior region of her neck, which she had noticed approximately 2 years before. Even though it had not caused any symptoms, its appearance had changed according to her parents. The patient's medical history, as well as that of her family's, was unremarkable. PMID:27319960

  14. Epidermal nevus syndrome with hypophosphatemic rickets in a young girl.

    PubMed

    Sukkhojaiwaratkul, Dabuswinee; Mahachoklertwattana, Pat; Poomthavorn, Preamrudee

    2014-07-01

    Epidermal nevus syndrome (ENS) is a rare congenital disorder. It is characterised by epidermal nevi and abnormalities of multiple organs, including central nervous system, skeleton, cardiovascular and genitourinary systems and eyes. Hypophosphatemic rickets-associated ENS has rarely been reported. We report a 46-month-old girl who presented with a classical feature of hypophosphatemic rickets. Examination of skin revealed multiple melanocytic nevi at her trunk, face and both arms with verrucous plaques at both axillae and neck, and yellow plaques at the back along Blaschko's lines. Histopathology of the skin lesions was compatible with epidermal nevi and nevus sebaceous. Therefore, the diagnosis of ENS was made. Apart from typical rickets, the skeletal X-rays interestingly displayed fibrous dysplasia-like lesions along right femur, tibia and fibula. Hypophosphatemic rickets was treated with alfacalcidol and phosphate solution. After 3 months of treatment, clinical improvement of hypophosphatemic rickets was clearly demonstrated. Her blood chemistries were normalised at 5 months following the treatment. In conclusion, hypophosphatemic rickets is a rare presentation of ENS. Our patient also demonstrated an additional abnormal bone finding, fibrous dysplasia-like lesions, associated with rachitic changes. This highlights heterogeneity of this condition and importance of thorough evaluation of patients with ENS.

  15. 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

  16. 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

  17. Conjunctival ganglioglioma as a feature of basal cell nevus syndrome.

    PubMed

    Sauer, Arnaud; Blavin, Julie; Lhermitte, Benoit; Speeg-Schatz, Claude

    2011-08-01

    Basal cell nevus syndrome (MIM #109400), also known as Gorlin syndrome, is a rare, autosomal-dominant disorder with complete penetrance and variable expressivity. The syndrome is characterized by odontogenic keratocysts of the mandible, postnatal tumors, and multiple basal cell carcinomas. Mutations in the PTCH1 gene (a tumor suppressor gene) or, more rarely, the NBCCS or the TRPC1 genes are responsible for the development of many postnatal tumors. We present a case of Gorlin syndrome presenting as a conjunctival ganglioglioma in a 13-year-old girl. While cases of cerebral ganglioglioma have been described in association with Gorlin syndrome, conjunctival ganglioglioma has not, to the best of our knowledge, been reported. PMID:21907124

  18. 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

  19. [Dysplastic melanocytic nevus].

    PubMed

    Bierhoff, E

    2015-02-01

    Dysplastic nevus is still a controversial entity both clinically and histologically. The occurrence of dysplastic nevus especially in the context of dysplastic nevus cell syndrome is associated with an increased risk for melanoma. The following minimal histological criteria should be fulfilled: nests of melanocytes varying in size and shape, bridging and confluent, proliferation of single melanocytes basal and suprabasal, cytoplasmic and nuclear atypia of melanocytes and subepidermal fibroplasia. The biological behavior (common nevus variant or precursor of melanoma?) is difficult to evaluate by presently available methods. The further development of new molecular biology techniques may allow a better prognosis of dysplastic nevi in an objective and reproducible manner. Against this background complete excision followed by clinical surveillance has to be recommended for the routine practice.

  20. 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

  1. Multiple orbital venous malformations presenting with enophthalmos in a patient with presumed blue rubber bleb nevus syndrome.

    PubMed

    Tuncer, Samuray; Peksayar, Gonul; Tefekli, Esra Guney; Ayranci, Ozen; Demirci, Hakan

    2008-01-01

    A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There was no palpable orbital mass or diplopia. MRI showed diffuse enhancing intraconal orbital and nasopharyngeal masses consistent with venous malformations in the right orbit. Systemic evaluation revealed bluish vascular lesions on the hard and soft palates, and the pretibial area of her right leg. These findings were suggestive of blue rubber bleb nevus syndrome. The patient was observed, and her clinical findings remained stable for 12 months. Enophthalmos can be a rare initial presentation of blue rubber bleb nevus syndrome and patients with ophthalmic involvement should undergo systemic evaluation including gastrointestinal, dermatologic, and otorhinolaryngologic examination. PMID:18645452

  2. Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

    PubMed

    Rai, S; Gauba, K

    2007-01-01

    Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

  3. Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.

    PubMed

    Shivaswamy, K N; Sumathy, T K; Shyamprasad, A L; Ranganathan, C

    2010-01-01

    Gorlin syndrome, also known as Basal Cell Nevus Syndrome (BCNS), is a rare autosomal dominant disorder with complete penetrance and variable expressivity. This syndrome is characterized by developmental anomalies, such as odentogenic keratocysts of the mandible and postnatal tumors, especially multiple basal cell carcinomas (BCCs). The prevalence of this syndrome is variously estimated to be 1 in 60,000 to 1 in 120,000 persons. Mutation in a tumor suppressor, the PTCH1 gene residing on long arm of Ch 9, is responsible for the development of many postnatal tumors. Patients with Gorlin syndrome show multiple abnormalities, none of which is unique to this condition. Our case had almost all the features of this rare syndrome. PMID:20875327

  4. 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.

  5. 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)

  6. Inhibiting the Hedgehog Pathway in Patients with the Basal-Cell Nevus Syndrome

    PubMed Central

    Tang, Jean Y.; Mackay-Wiggan, Julian M.; Aszterbaum, Michelle; Yauch, Robert L.; Lindgren, Joselyn; Chang, Kris; Coppola, Carol; Chanana, Anita M.; Marji, Jackleen; Bickers, David R.; Epstein, Ervin H.

    2012-01-01

    BACKGROUND Dysregulated hedgehog signaling is the pivotal molecular abnormality underlying basal-cell carcinomas. Vismodegib is a new orally administered hedgehog-pathway inhibitor that produces objective responses in locally advanced and metastatic basal-cell carcinomas. METHODS We tested the anti–basal-cell carcinoma efficacy of vismodegib in a randomized, double-blind, placebo-controlled trial in patients with the basal-cell nevus syndrome at three clinical centers from September 2009 through January 2011. The primary end point was reduction in the incidence of new basal-cell carcinomas that were eligible for surgical resection (surgically eligible) with vismodegib versus placebo after 3 months; secondary end points included reduction in the size of existing basal-cell carcinomas. RESULTS In 41 patients followed for a mean of 8 months (range, 1 to 15) after enrollment, the per-patient rate of new surgically eligible basal-cell carcinomas was lower with vismodegib than with placebo (2 vs. 29 cases per group per year, P<0.001), as was the size (percent change from baseline in the sum of the longest diameter) of existing clinically significant basal-cell carcinomas (−65% vs. −11%, P = 0.003). In some patients, all basal-cell carcinomas clinically regressed. No tumors progressed during treatment with vismodegib. Patients receiving vismodegib routinely had grade 1 or 2 adverse events of loss of taste, muscle cramps, hair loss, and weight loss. Overall, 54% of patients (14 of 26) receiving vismodegib discontinued drug treatment owing to adverse events. At 1 month, vismodegib use had reduced the hedgehog target-gene expression by basal-cell carcinoma by 90% (P<0.001) and diminished tumor-cell proliferation, but apoptosis was not affected. No residual basal-cell carcinoma was detectable in 83% of biopsy samples taken from sites of clinically regressed basal-cell carcinomas. CONCLUSIONS Vismodegib reduces the basal-cell carcinoma tumor burden and blocks growth of

  7. High Prevalence of Vitamin D Deficiency in Patients With Basal Cell Nevus Syndrome

    PubMed Central

    Tang, Jean Y.; Wu, Angela; Linos, Eleni; Parimi, Neeta; Lee, Wayne; Aszterbaum, Michelle; Asgari, Maryam M.; Bickers, David R.; Epstein, Ervin H.

    2011-01-01

    Objectives To evaluate vitamin D status in patients with basal cell nevus syndrome (BCNS) who practice photo-protection because of their genetic predisposition to skin cancer and to determine risk factors for deficiency. Design Retrospective cohort study. Setting Academic medical centers. Patients Forty-one ambulatory patients with BCNS who participated in a 2-year chemoprevention clinical trial. Population-based controls (n=360) were selected and matched by age, sex, Fitzpatrick skin type, and season/geography. Main Outcome Measures Levels of 25-hydroxy-vitamin D (25[OH]D) and vitamin D deficiency (defined as a 25[OH]D level of ≤20 ng/mL). Results Twenty-three patients with BCNS (56%) were vitamin D deficient. Patients with BCNS had mean 25(OH)D levels below those of the general population (−3 ng/mL; P=.02) and were 3 times more likely to be vitamin D deficient (56% vs 18%; P<.001). Levels of 25(OH)D were lower in patients who were overweight (−3.0 ng/mL; P=.04) and who had blood collected in the winter compared with the summer (−7.1 ng/mL; P<.001). Conclusion Patients with BCNS may be at increased risk for vitamin D deficiency, depending on their adherence to photoprotection practices. PMID:20956641

  8. The use of vismodegib to shrink keratocystic odontogenic tumors in basal cell nevus syndrome patients

    PubMed Central

    Ally, Mina S.; Tang, Jean Y.; Joseph, Timmy; Thompson, Bobbye; Lindgren, Joselyn; Raphael, Maria Acosta; Ulerio, Grace; Chanana, Anita M.; Mackay-Wiggan, Julian M.; Bickers, David R.; Epstein, Ervin H

    2014-01-01

    Importance Keratocystic odontogenic tumors of the jaw (KCOTs) affect more than 65% of patients with basal cell nevus syndrome (BCNS). Surgery frequently causes facial disfigurement and is not always curative. Most BCNS-related and some sporadic KCOTs have malignant activation of the Hedgehog (HH) signaling pathway. Observations We examined the effect of vismodegib (an oral HH-pathway inhibitor) on KCOT size in BCNS patients enrolled in a clinical trial testing vismodegib for BCC prevention (NCT00957229), using pre and post-treatment MRIs. Four men and 2 women had pretreatment KCOTs, mean longest diameter 2.0cm (range: 0.7–3.3cm), occurring primarily in the mandible. Subjects were treated with vismodegib (150mg/day) for a mean 18 months (SD: 4.8, range: 11–24). Four subjects experienced a size reduction and 2 had no change. Vismodegib reduced the mean longest diameter of KCOTs in all subjects by 1.0cm (95% CI: 0.03, 1.94, p= 0.02) or 50% from baseline. We observed no enlargement of existing KCOTs or new KCOT development. Conclusions and relevance Vismodegib shrinks some KCOTs in BCNS patients and may offer an alternative to surgical therapy. These effects were maintained for at least 9 months after drug cessation in 1 patient. Further studies assessing long-term efficacy and optimal maintenance regimens should be performed. PMID:24623282

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

    PubMed

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

    2013-03-01

    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. PMID:27625839

  10. 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. PMID:27625839

  11. 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

  12. 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

  13. Sonic Hedgehog Signaling in Basal Cell Nevus Syndrome

    PubMed Central

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

    2014-01-01

    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 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 Basal Cell Carcinoma 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 de-repression 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, in patients with NBCCS showing remarkable efficacy finally led to its FDA approval in 2012. PMID:25172843

  14. 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.

  15. 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

  16. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.

    PubMed

    Yamamoto, Kayono; Yoshihashi, Hiroshi; Furuya, Noritaka; Adachi, Masanori; Ito, Susumu; Tanaka, Yukichi; Masuno, Mitsuo; Chiyo, Hideaki; Kurosawa, Kenji

    2009-03-01

    Basal cell nevus syndrome (BCNS; Gorlin syndrome) is an autosomal dominant disorder, characterized by a predisposition to neoplasms and developmental abnormalities. BCNS is caused by mutations in the human homolog of the Drosophila patched gene-1, PTCH1, which is mapped on chromosome 9q22.3. Nonsense, frameshift, in-frame deletions, splice-site, and missense mutations have been found in the syndrome. Haploinsufficiency of PTCH1, which is caused by interstitial deletion of 9q22.3, is also responsible for the syndrome. To date, 19 cases with interstitial deletion of long arm of chromosome 9 involving the region of q22 have been reported. We describe two unrelated patients with some typical features of BCNS associated with deletion of 9q21.33-q31.1 and determined the boundary of the deletion by fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones. The results showed that the size of deletions is between 15.33 and 16.04 Mb in patient 1 and between 18.08 and 18.54 Mb in patient 2. Although the size and breakpoints were different from those of previously reported cases, the clinical features are common to patients with 9q22 deletion associated with BCNS. Delineation of the 9q22 deletions and further consideration of the genes responsible for the characteristic manifestations may provide insight into this newly recognized deletion syndrome. PMID:19243411

  17. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  18. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  19. [Dysplastic melanocytic nevus].

    PubMed

    Salava, Alexander; Ranki, Annamari; Saksela, Olli

    2010-01-01

    The dysplastic melanocytic nevus remains an issue of controversy despite extensive investigations. On clinical grounds the term atypical melanocytic nevus should be used, while dysplastic melanocytic nevus describes histological characteristics. The association with melanoma is complex. With the clinical picture, dermatoscopy and molecular biological or genetic examinations one can often not distinguish a histological dysplastic nevus from a melanoma. In patients with large amounts of melanocytic nevi it is important to assess the total melanoma risk, the need for patient surveillance and motivate the patient for self-examination. In high-risk patients the amount of benign melanocytic nevi is increased and many clinically atypical and microscopically dysplastic nevi can be found. The relatives of these patients should also be examined. Because of the rising incidence of melanoma and the lack of therapeutic options in disseminated disease, the surveillance of high risk patients, the early detection of melanoma and excision play a key role in patient management. PMID:21171474

  20. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  1. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

    PubMed

    Takahashi, Chiaki; Kanazawa, Nozomi; Yoshikawa, Yoshie; Yoshikawa, Reigetsu; Saitoh, Yuko; Chiyo, Hideaki; Tanizawa, Takakuni; Hashimoto-Tamaoki, Tomoko; Nakano, Yoshiro

    2009-07-01

    Basal cell nevus syndrome (BCNS or Gorlin syndrome, OMIM: 109400) is a rare autosomal dominant disorder with high penetrance. It is characterized by developmental anomalies and predisposition to tumors (for example, basal cell carcinoma (BCC) and medulloblastoma). PTCH1, the human homolog of the Drosophila patched gene, was identified as a gene responsible for BCNS. The PTCH1 protein is a Hedgehog (Hh) protein receptor and is pivotal for early development, stem cell maintenance and/or differentiation. We analyzed the six Japanese families with BCNS and identified six germline mutations in the PTCH1 gene. One family had a nonsense mutation (c.1196G>A), one had a 1-bp deletion (c.2029delA), two had 2-bp deletions (c.239_240delGA and c.1670_1671delCA) and one had a 58-bp duplication (c.1138_1195dup). They caused premature termination, resulting in the truncation of the PTCH1 protein. Analysis of a high-density single nucleotide polymorphism (SNP) mapping array showed a large approximately 1.2-Mb deletion, including the PTCH1 gene in one allele, in a family in which PTCH1 mutations were not identified at the sequence level. These data indicated that all the six families who were diagnosed with BCNS had mutations in the PTCH1 gene and that a single copy of a PTCH1 mutation causes BCNS. PMID:19557015

  2. Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

    PubMed Central

    Matsuzawa, N; Nagao, T; Shimozato, K; Niikawa, N; Yoshiura, K‐i

    2006-01-01

    Aim To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS). Methods Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing. Results Six novel PTCH1 mutations, 833G→A in exon 6, 1415C→A and 1451G→T in exon 10, 2798delC in exon 17, 2918–2925dupAGTTCCCT in exon 18 and 3956C→A in exon 23, were identified. Conclusions Among the six PTCH1 mutations, two frameshift mutations (2798delC and 2918–2925dupAGTTCCCT) and one nonsense mutation (833G→A) are predicted to lead to premature termination of PTCH1 protein translation. Three simultaneous mutations, 1415C→A (A472D) and 1451G→T (G484V) in exon 10, and 3956G→A (R1319H) in exon 23, were found on one allele in only affected members in one family and none of them were found among 90 unrelated healthy Japanese. The three mutations on one chromosome may have resulted from errors in the recombinational repair process and this is the first report on the PTCH1 mutations due to such a mechanism. PMID:17021131

  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. The deep penetrating nevus.

    PubMed

    Strazzula, Lauren; Senna, Maryanne Makredes; Yasuda, Mariko; Belazarian, Leah

    2014-12-01

    The deep penetrating nevus (DPN), also known as the plexiform spindle cell nevus, is a pigmented lesion that commonly arises on the head and neck in the first few decades of life. Histopathologically, the DPN is wedge-shaped and contains melanocytes that exhibit deep infiltration into the dermis. Given these features, DPN may clinically and histopathologically mimic malignant melanoma, sparking confusion about the appropriate evaluation and management of these lesions. The goal of this review is to summarize the clinical and histopathological features of DPN and to discuss diagnostic and treatment strategies for dermatologists.

  5. Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.

    PubMed

    Pawlikowski, Jeffrey S; Brock, Claire; Chen, Sheau-Chiann; Al-Olabi, Lara; Nixon, Colin; McGregor, Fiona; Paine, Simon; Chanudet, Estelle; Lambie, Wendy; Holmes, William M; Mullin, James M; Richmond, Ann; Wu, Hong; Blyth, Karen; King, Ayala; Kinsler, Veronica A; Adams, Peter D

    2015-08-01

    Congenital melanocytic nevus (CMN) syndrome is the association of pigmented melanocytic nevi with extra-cutaneous features, classically melanotic cells within the central nervous system, most frequently caused by a mutation of NRAS codon 61. This condition is currently untreatable and carries a significant risk of melanoma within the skin, brain, or leptomeninges. We have previously proposed a key role for Wnt signaling in the formation of melanocytic nevi, suggesting that activated Wnt signaling may be synergistic with activated NRAS in the pathogenesis of CMN syndrome. Some familial pre-disposition suggests a germ-line contribution to CMN syndrome, as does variability of neurological phenotypes in individuals with similar cutaneous phenotypes. Accordingly, we performed exome sequencing of germ-line DNA from patients with CMN to reveal rare or undescribed Wnt-signaling alterations. A murine model harboring activated NRAS(Q61K) and Wnt signaling in melanocytes exhibited striking features of CMN syndrome, in particular neurological involvement. In the first model of treatment for this condition, these congenital, and previously assumed permanent, features were profoundly suppressed by acute post-natal treatment with a MEK inhibitor. These data suggest that activated NRAS and aberrant Wnt signaling conspire to drive CMN syndrome. Post-natal MEK inhibition is a potential candidate therapy for patients with this debilitating condition.

  6. Histopathologic clues for the diagnosis of Wiesner nevus.

    PubMed

    Llamas-Velasco, Mar; Pérez-Gónzalez, Yosmar Carolina; Requena, Luis; Kutzner, Heinz

    2014-03-01

    The dermatologic hallmark of a recently described BAP1-associated cancer susceptibility syndrome is a dome-shaped nevus with distinct clinicopathological features, first delineated by Wiesner and colleagues. Here we describe the leading histopathological criteria of Wiesner nevus. Wiesner nevus is composed of various nevomelanocytic populations all showing different degrees of atypia ranging from hyperchromatic nevus cell-like to large atypical epithelioid cells. Immunohistochemically, Wiesner nevus is BAP1 negative and VE1 positive.

  7. Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome.

    PubMed

    Tang, Jean Y; Chiou, Albert S; Mackay-Wiggan, Julian M; Aszterbaum, Michelle; Chanana, Anita M; Lee, Wayne; Lindgren, Joselyn A; Raphael, Maria Acosta; Thompson, Bobbye J; Bickers, David R; Epstein, Ervin H

    2014-03-01

    Sporadic human basal cell carcinomas (BCC) are generally well managed with current surgical modalities. However, in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low-morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-β and RAR-γ receptors. We previously demonstrated tazarotene's robust anti-BCC efficacy in Ptch1(+/-) mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in patients with BCNS evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N = 34 subjects), along with an open-label trial evaluating tazarotene's efficacy for chemotherapy of BCC lesions (N = 36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS. PMID:24441673

  8. Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome.

    PubMed

    Tang, Jean Y; Chiou, Albert S; Mackay-Wiggan, Julian M; Aszterbaum, Michelle; Chanana, Anita M; Lee, Wayne; Lindgren, Joselyn A; Raphael, Maria Acosta; Thompson, Bobbye J; Bickers, David R; Epstein, Ervin H

    2014-03-01

    Sporadic human basal cell carcinomas (BCC) are generally well managed with current surgical modalities. However, in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low-morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-β and RAR-γ receptors. We previously demonstrated tazarotene's robust anti-BCC efficacy in Ptch1(+/-) mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in patients with BCNS evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N = 34 subjects), along with an open-label trial evaluating tazarotene's efficacy for chemotherapy of BCC lesions (N = 36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS.

  9. 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

  10. 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

  11. 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.

  12. Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

    PubMed

    van Haeringen, A; Bergman, W; Nelen, M R; van der Kooij-Meijs, E; Hendrikse, I; Wijnen, J T; Khan, P M; Klasen, E C; Frants, R R

    1989-07-01

    Familial dysplastic nevus syndrome (DNS) is an autosomal dominant premalignant condition characterized by multiple large moles of variable size and color and a strongly increased risk for cutaneous malignant melanoma. In order to determine the chromosomal localization of the DNS gene, linkage studies were initiated in six large Dutch families. No support was obtained for linkage between the loci for DNS and the rhesus blood group on chromosome 1. Data from additional markers (DNF15S1, D1Z2, FUCA1, D1S17, D1S57, and PGM1) make it possible to exclude the DNS gene from the short arm of chromosome 1 in these Dutch families.

  13. Tazarotene: Randomized, Double-Blind, Vehicle-Controlled and Open-Label Concurrent Trials for Basal Cell Carcinoma Prevention and Therapy in Patients with Basal Cell Nevus Syndrome

    PubMed Central

    Tang, Jean Y.; Chiou, Albert S.; Mackay-Wiggan, Julian M.; Aszterbaum, Michelle; Chanana, Anita M.; Lee, Wayne; Lindgren, Joselyn A.; Raphael, Maria Acosta; Thompson, Bobbye J.; Bickers, David R.; Epstein, Ervin H.

    2014-01-01

    Sporadic human basal cell carcinomas (BCCs) are generally well managed with current surgical modalities. However in the subset of high-risk patients predisposed to developing large numbers of BCCs, there is an unmet need for effective, low morbidity chemoprevention. This population includes fair-skinned patients with extensive sun exposure and those with genodermatoses such as the basal cell nevus (Gorlin) syndrome (BCNS). Tazarotene (Tazorac, Allergan) is a topical retinoid with relative specificity for RAR-β and RAR-γ receptors. We previously demonstrated tazarotene’s robust anti-BCC efficacy in Ptch1+/- mice, a murine equivalent of BCNS, and others have found it to have some efficacy against sporadic human BCCs. We report here results of a randomized, double-blind, vehicle-controlled study in BCNS patients evaluating the efficacy of topically applied tazarotene for BCC chemoprevention (N=34 subjects), along with an open-label trial evaluating tazarotene’s efficacy for chemotherapy of BCC lesions (N=36 subjects) for a maximum follow-up period of 3 years. We found that only 6% of patients had a chemopreventive response and that only 6% of treated BCC target lesions were clinically cured. Our studies provide no evidence for either chemopreventive or chemotherapeutic effect of tazarotene against BCCs in patients with BCNS. We hypothesize that the discrepancy between the efficacy seen in Ptch1+/- mice as compared to that seen in PTCH1+/-, BCNS patients, may relate to the superior barrier function of human skin and the greater depth of human BCCs. PMID:24441673

  14. Nevus Outreach, Inc.

    MedlinePlus

    ... Highlights Dean Rogers Donor Challenge Issued Total Body Photography (TBP) The 2010 International Nevus Outreach Conference Memory ... Highlights Dean Rogers Donor Challenge Issued Total Body Photography (TBP) The 2010 International Nevus Outreach Conference Memory ...

  15. 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

  16. Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree.

    PubMed

    Panhuysen, Carolien I; Karban, Amir; Knodle Manning, Alisa; Bayless, Theodore M; Duerr, Richard H; Bailey-Wilson, Joan E; Epstein, Ervin H; Brant, Steven R

    2006-08-01

    Basal Cell Nevus Syndrome (BCNS) is an autosomal dominant disease. PTCH1 gene mutations have been found responsible in many but not all pedigrees. Inflammatory Bowel Disease (IBD) is a complex genetic disorder, disproportionate in Ashkenazim, and characterized by chronic intestinal inflammation. We revisited a large Ashkenazim pedigree, first reported in 1968, with multiple diagnoses of BCNS and IBD, and with a common genetic cause for both disorders proposed. We expanded the pedigree to four generations and performed a genome-wide linkage study for BCNS and IBD traits. Twelve members with BCNS, seven with IBD, five with both diagnoses and eight unaffected were genotyped. Both non-parametric (GENEHUNTER 2.1) and parametric (FASTLINK) linkage analyses were performed and a validation through simulation was performed. BCNS linked to chromosome 9q22 (D9S1120) just proximal to the PTCH1 gene (NPL=3.26, P=0.003; parametric two-point LOD=2.4, parametric multipoint LOD=3.7). Novel IBD linkage evidence was observed at chromosome 1p13 (D1S420, NPL 3.92, P=0.0047; parametric two-point LOD=1.9). Linkage evidence was also observed to previously reported IBD loci on 4q, (D4S2623, NPL 3.02, P=0.012; parametric two-point LOD=2.15), 10q23 (D10S1225 near DLG5, NPL 3.33, P=0.0085; parametric two-point LOD=1.3), 12 overlapping the IBD2 locus (D12S313, NPL 2.6, P=0.018; parametric two-point LOD=1.52), and 7q (D7S510 and D7S3046, NPL 4.06, P=0.0035; parametric two-point LOD=2.18). In this pedigree affected by both BCNS and IBD, the two traits and their respective candidate genetic loci segregate independently; BCNS maps to the PTCH1 gene and IBD maps to several candidate regions, mostly overlapping previously observed IBD loci. PMID:16733713

  17. 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

  18. 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

  19. 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.

  20. Neurotized congenital melanocytic nevus resembling a pigmented neurofibroma.

    PubMed

    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.

  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. Dysplastic nevus: Fact and fiction.

    PubMed

    Rosendahl, Cliff O; Grant-Kels, Jane M; Que, Syril Keena T

    2015-09-01

    The term "dysplastic nevus" (DN) implies that this nevus exists as a distinct and defined entity of potential detriment to its host. We examine the current data, which suggest that this entity exists as histologically and possibly genetically different from common nevus, with some overlapping features. Studies show that a melanoma associated with a nevus is just as likely to arise in a common nevus as in DN. Furthermore, there is no evidence that a histologically defined DN evolves into a melanoma or that the presence of 1 or more DN on an individual patient confers any increased melanoma risk. We suggest that the term "dysplastic nevus" be abandoned so that the focus can shift to confirmed and relevant indicators of melanoma risk, including high nevus counts and large nevus size.

  3. 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.

  4. The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.

    PubMed

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

    2013-10-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. By using an N-ethyl-N-nitrosourea-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. By 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 Ptch1(DL) 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

  5. Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma

    SciTech Connect

    Smith, P.J.; Greene, M.H.; Adams, D.; Paterson, M.C.

    1983-01-01

    The dysplastic nevus syndrome (DNS) is a preneoplastic melanocyte abnormality which occurs in families affected by hereditary cutaneous malignant melanoma (HCMM). A putative role of host-environmental interactions in the etiology of hereditary melanoma has been strengthened by the recent finding that fibroblasts derived from HCMM/DNS patients demonstrated enhanced sensitivity to u.v.-irradiation in vitro. An extension of these studies is reported in which we have examined the invitro responses to a model environmental carcinogen, 4-nitroquinoline 1-oxide (4NQO), of six non-tumor skin fibroblast strains from HCMM/DNS patients representing five families. Three of the six HCMM/DNS strains showed enhanced cell killing with sensitivities greater than that of a xeroderma pigmentosum (XP) variant strain but less than those of ataxia telangiectasia and XP Group D cell strains. The inhibition and recovery of de novo DNA synthesis, together with the expression of repair synthesis, following 4NQO exposure appeared to be normal in HCMM/DNS strains, irrespective of their subsequent clonogenic potential. The data point to a metabolic anomaly which may contribute to the carcinogenic risk of the melanoma prone preneoplastic state presented by some DNS patients.

  6. 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.

  7. 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

  8. 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.

  9. Comparison of Characteristics of Acquired Bilateral Nevus of Ota-like Macules and Nevus of Ota According to Therapeutic Outcome

    PubMed Central

    Lee, Bangjin; Kim, You Chan; Kang, Won Hyoung

    2004-01-01

    Both acquired bilateral nevus of Ota-like macules (ABNOM) and nevus of Ota are characterized by the presence of dermal melanocytes. There are no differences in the method of treatment, however, postinflammatory hyperpigmentation (PIH) develops more often in ABNOM than in nevus of Ota following treatment. We investigated the differences in the development of PIH after treatment between ABNOM and nevus of Ota, and the histopathologic differences in the PIH. A total of 82 patients with ABNOM (n=47) and nevus of Ota (n=35) were treated with Q-switched alexandrite laser and followed up 2 weeks and 3 months later. Biopsies were performed on lesional skin before treatment. The distribution and the amount of melanin pigments were visualized with Fontana-Masson stain, and the distribution and the depth of melanocytes were measured by GP-100 (NK1-beteb) stain. Clinically, there was more erythema and PIH in ABNOM than in nevus of Ota. Histopathologically, intradermal melanocytes were clustered in groups and dispersed perivascularly in ABNOM, while melanocytes were scattered evenly throughout the dermis in nevus of Ota. Both groups show that when there is a statistically significant number of melanocytes in the perivascular area, erythema and PIH occur after laser therapy. In conclusion, indirect vessel injury in addition to perivascular clustering melanocytes might be considered the cause of increased PIH after treatment in ABNOM. PMID:15308847

  10. Currarino syndrome: Rare clinical variants

    PubMed Central

    Kumar, Bindey; Sinha, Amit Kumar; Kumar, Prem; Kumar, Anil

    2016-01-01

    Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease.

  11. Currarino syndrome: Rare clinical variants

    PubMed Central

    Kumar, Bindey; Sinha, Amit Kumar; Kumar, Prem; Kumar, Anil

    2016-01-01

    Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease. PMID:27695213

  12. 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

  13. 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 ...

  14. 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.

  15. 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

  16. Sotos Syndrome. Clinical Exchange.

    ERIC Educational Resources Information Center

    Shuey, Elaine M.; Jamison, Kristen

    1996-01-01

    Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It is more common in males than females. Developmental deficits, specific learning problems, and speech/language delays may also occur. (DB)

  17. Pseudogranulomatous Spitz nevus: a variant of Spitz nevus with heavy inflammatory infiltrate mimicking a granulomatous dermatitis.

    PubMed

    Sabater Marco, Vicente; Escutia Muñoz, Begoña; Morera Faet, Arturo; Mata Roig, Manuel; Botella Estrada, Rafael

    2013-03-01

    Spitz nevus is a benign melanocytic proliferation that shows relatively characteristic clinicopathologic features. Despite this, Spitz nevus is clinically confused with many other lesions, and histopathologically it is sometimes difficult to distinguish it from melanoma. However, Spitz nevus rarely causes differential diagnostic problems with granulomatous dermatitis. This article describes an 8-year-old girl who presented with a nodule on her right arm, a clinical appearance of a pyogenic granuloma. Histopathologically, there was a dermal lesion composed of aggregates of large epithelioid cells surrounded by a heavy inflammatory infiltrate, mimicking a sarcoid-like granulomatous dermatitis. Immunohistochemistry showed epithelioid cells with strong nuclear and cytoplasmic staining with S-100 protein, thus establishing the diagnosis of a melanocytic tumor. The heavy T-cell lymphocytic infiltrate that accompanies the large epithelioid cells caused its granulomatous appearance. Molecular assessment showed H27H mutation in the HRAS gene. We suggest the term 'pseudogranulomatous' for this variant of Spitz nevus because it indicates that the lesion is not authentically granulomatous and simply mimics a granulomatous dermatitis.

  18. [Clinical guideline 'Turner syndrome'].

    PubMed

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  19. Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

    PubMed Central

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

    2016-01-01

    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. Nodal combined blue nevus and benign nevus cells in multiple axillary sentinel nodes in a patient with breast carcinoma: report of a case.

    PubMed

    Begum, S M K Nahar; Lomme, Michele; Quddus, M Ruhul

    2014-09-01

    Combined blue nevus and benign nevus cells were identified in the same sentinel lymph node. Blue nevus alone was also present in an additional sentinel lymph node in the same axilla in a patient who underwent needle localization, wide local excision, and sentinel lymph node biopsy for her pT1cN1mi(sn)M(na) invasive duct carcinoma of the breast. Of the 4 sentinel lymph nodes, 1 showed micrometastasis and 2 other lymph nodes showed blue nevus involving the capsule and trabeculae of the nodes. The patient had no significant previous clinical history of any skin tumors and had a negative clinical examination for malignant melanoma or pigmented skin lesions after the diagnosis of nodal blue nevus. To our knowledge, this is the first case report of combined blue nevi involving multiple sentinel lymph nodes in the same axilla. An equally interesting finding is the presence of benign nonpigmented nevus cells in continuation with the blue nevus in the same node.

  1. Clinical biomarkers in metabolic syndrome.

    PubMed

    Barazzoni, Rocco; Silva, Veronica; Singer, Pierre

    2014-04-01

    A biomarker can be defined as a measurable variable that may be used as an indicator of a given biological state or condition. Biomarkers have been used in health and disease for diagnostic purposes, as tools to assess effectiveness of nutritional or drug intervention, or as risk markers to predict the development of certain diseases. In nutrition studies, selecting appropriate biomarkers is important to assess compliance, or incidence of a particular dietary component in the biochemistry of the organism, and in the diagnosis and prognosis of nutrition-related diseases. Metabolic syndrome is a cluster of cardiovascular risk factors that occur simultaneously in the same individual, and it is associated with systemic alterations that may involve several organs and tissues. Given its close association with obesity and the increasing prevalence of obesity worldwide, identifying obese individuals at risk for metabolic syndrome is a major clinical priority. Biomarkers for metabolic syndrome are therefore potential important tools to maximize the effectiveness of treatment in subjects who would likely benefit the most. Choice of biomarkers may be challenging due to the complexity of the syndrome, and this article will mainly focus on nutrition biomarkers related to the diagnosis and prognosis of the metabolic syndrome.

  2. Unusual halo nevi--darkening rather than lightening of the central nevus.

    PubMed

    Huynh, P M; Lazova, R; Bolognia, J L

    2001-01-01

    Although the classic halo nevus is a brown nevus with a surrounding rim of depigmentation, i.e. a stage I halo nevus, these nevi can have several clinical stages. The central nevus may lose its pigmentation and appear pink with a surrounding halo (stage II), the central papule may disappear leading to a circular area of depigmentation (stage III) or the depigmented area may repigment (stage IV), leaving no trace of its prior existence. Herein we describe an unusual phenomenon--darkening of the central nevus rather than lightening--following the appearance of the halo phenomenon. An 18-year-old boy who had multiple atypical nevi developed multiple halo nevi beginning at the age of 12 years. Following the appearance of the peripheral halos, 2 of his nevi that were originally solid medium brown in color darkened and the hyperpigmentation had a reticulated pattern with perifollicular sparing. One possible explanation is a postinflammatory hyperpigmentation induced by the infiltrating lymphocytes.

  3. Intraocular choristoma, anterior staphyloma with ipsilateral nevus sebaceus, and congenital giant hairy nevus: a case report.

    PubMed

    Nigam, Pramod K; Sudarshan, Vijaya; Chandrakar, Ashok K; Gahine, Renuka; Krishnani, Chandani

    2011-02-01

    A 5-year-old girl presented with choristoma of the eye along with nevus sebaceus and congenital giant hairy nevus over the face. Anterior staphyloma also was present. Although choristomas have been seen occasionally occurring with nevus sebaceus, an associated ipsilateral, regional, congenital giant hairy nevus is rare.

  4. 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

  5. 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! ...

  6. [Clinical aspects of Marfan syndrome].

    PubMed

    Belsing, Tina Zimmermann; Lund, Allan Meldgaard; Søndergaard, Lars; Friis-Hansen, Lennart; Abildstrøm, Steen Zabell

    2011-01-31

    Marfan syndrome (MFS) and MFS-related diseases are inherited connective tissue disorders involving several organ systems. The diagnosis of MFS is difficult as the many symptoms overlap with those of other systemic connective tissue diseases. The phenotype is progressive. Effective surgical therapy and standardized follow-up programs have led to an improved lifespan for the affected individuals. Selective angiotensin II, type 1 (AT1) blockers may improve several manifestations of MFS, but the outcome of clinical trials is presently unknown. This review describes the importance of a coordinated strategy for diagnosis, treatment and follow-up. PMID:21276396

  7. 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

  8. 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

  9. Asperger syndrome, violent thoughts and clinically isolated syndrome.

    PubMed

    Vanderbruggen, N; Van Geit, N; Bissay, V; Zeeuws, D; Santermans, L; Baeken, C

    2010-12-01

    A young man, 23 years old, with a clinically isolated syndrome (CIS), presented violent thoughts during a neurological consultation. He was diagnosed with Asperger Syndrome based on a psychiatric and (neuro)psychological examination. Possible risk factors for acting-out and the implications for treatment, if CIS would evolve to MS, are discussed based on a review of the literature.

  10. Refeeding syndrome: a clinical review.

    PubMed

    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

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

    PubMed

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

    2014-06-23

    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.

  12. 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

  13. 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

  14. 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

  15. A Clinical Perspective of the Takotsubo Syndrome.

    PubMed

    Sharkey, Scott W

    2016-10-01

    This article provides a contemporary review of the clinical features of the takotsubo syndrome. The author discusses hallmark elements that distinguish this novel acute cardiac condition from the more common acute coronary syndrome. This review includes relevant clinical detail surrounding findings on ECG, biochemical testing, and cardiac imaging and a discussion of complications, including acute decompensated heart failure, arrhythmias, ventricular thrombi, and left ventricular outflow obstruction. The review concludes with discussion of proper treatment, long-term survival, and recurrence. PMID:27638021

  16. Familial medial telangiectatic nevus: variant of nevus flammeus--port-wine stain.

    PubMed

    Pasyk, K A; Wlodarczyk, S R; Jakobczak, M M; Kurek, M; Aughton, D J

    1993-05-01

    Six families in which a few members, in three generations, were affected with medial telangiectatic nevus (salmon patch, stork bite, angel's kiss) on the forehead, glabella, upper eyelids, upper lip, nose, and nuchal and occipital areas are presented. This is a mild variant of lateral telangiectatic nevus (nevus flammeus, port-wine stain) that disappears in about 50 percent of patients during the first years of life. In one family, lateral telangiectatic nevus (nevus flammeus, port-wine stain) and superficial (strawberry) hemangioma coexisted with medial telangiectatic nevus. This paper discusses the familial incidence of medial telangiectatic nevus and a new modality of treatment. Moreover, the paper presents a classification of vascular malformations and proposes a new terminology. PMID:8479968

  17. 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 ...

  18. [Pigmented nevus and preventive surgery of skin melanoma].

    PubMed

    Halaĭchuk, I I

    2002-07-01

    Modern clinical views on the role of nevus in occurrence of melanoma were enlighted. The main positions of diagnostic-therapeutic algorithm of preventive surgery of the skin melanoma were substantiated. Methods of surgical interventions, variants of morphological conclusions and tactic of treatment after the operation performance were suggested. Particular role of oncologist and pathomorphologist in establishing of diagnosis and choice of correct tactic of treatment was underlined.

  19. 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

  20. 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

  1. 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

  2. An Orbital Malignant Melanoma Arising in Cellular Blue Nevus in a Patient with Nevus of Ota

    PubMed Central

    Ouyang, Jie; Cartwright, Mont

    2016-01-01

    Melanomas arising from orbital melanocytic proliferations are exceedingly rare. Many questions remain regarding their development and malignant transformation. We report on a 45-year-old Caucasian woman with a nevus of Ota that presented with visual disturbances involving her right eye and was found to have a biopsy-proven cellular blue nevus in the orbital space. Five years later, she presented with proptosis and worsening symptoms. Biopsy at that time showed a cellular blue nevus with areas of melanoma. We conclude that patients with a nevus of Ota or an orbital cellular blue nevus, particularly Caucasians, should be monitored for ocular/orbital involvement and followed closely for signs of rapid growth. There may be a progressive evolution to melanoma from a blue nevus.   PMID:27699140

  3. An Orbital Malignant Melanoma Arising in Cellular Blue Nevus in a Patient with Nevus of Ota

    PubMed Central

    Ouyang, Jie; Cartwright, Mont

    2016-01-01

    Melanomas arising from orbital melanocytic proliferations are exceedingly rare. Many questions remain regarding their development and malignant transformation. We report on a 45-year-old Caucasian woman with a nevus of Ota that presented with visual disturbances involving her right eye and was found to have a biopsy-proven cellular blue nevus in the orbital space. Five years later, she presented with proptosis and worsening symptoms. Biopsy at that time showed a cellular blue nevus with areas of melanoma. We conclude that patients with a nevus of Ota or an orbital cellular blue nevus, particularly Caucasians, should be monitored for ocular/orbital involvement and followed closely for signs of rapid growth. There may be a progressive evolution to melanoma from a blue nevus.  

  4. Racism as a clinical syndrome.

    PubMed

    Dobbins, J E; Skillings, J H

    2000-01-01

    This paper examines the clinical effects of racism on its targets and, in particular, on its agents, the individuals who, wittingly or not, partake of the culture of racial privilege. It proposes a paradigm shift in regard to the clinical study of racism, and presents a structural model of racism, analogous to addiction as a disease, which holds that racism has an etiology and a clinical taxonomy that lends itself to differential diagnosis and treatment of those who manifest symptoms.

  5. 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.

  6. 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

  7. Agminated blue nevus - Case report*

    PubMed Central

    Lisboa, Alice Paixão; Silvestre, Keline Jácome; Pedreira, Renata Leite; Alves, Natália Ribeiro de Magalhães; Obadia, Daniel Lago; Azulay-Abulafia, Luna

    2016-01-01

    Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus.

  8. Clinical and molecular findings in IPEX syndrome

    PubMed Central

    Myers, A K; Perroni, L; Costigan, C; Reardon, W

    2006-01-01

    IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported. PMID:16371377

  9. Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

    PubMed

    Sprague, Jessica; Landau, Joseph W

    2016-09-01

    Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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 ...

  15. 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

  16. The inflammatory infiltrate of melanocytic nevus.

    PubMed

    Fernandez-Flores, Angel; Saeb-Lima, Marcela

    2014-01-01

    Melanocytic nevi are frequently accompanied by inflammatory cells of different types, in varied amounts and distributed in different patterns. In the current report, we review the knowledge on inflammation seen in different types of melanocytic nevi. As an additional contribution, we studied the lymphocytic inflammatory component of Duperrat nevus, as well as the cytotoxic component of Sutton nevus, two contributions that we have not found in the literature. We conclude that: (a) Duperrat nevus has a mixed inflammatory reaction that includes histiocytes, foreign-body multinucleated giant cells, polymorphonuclears, lymphocytes (predominantly CD4+) and plasma cells (commonly abundant); (b) common melanocytic nevi with reactive inflammatory infiltrate usually show a CD4+ predominant population; (c) Meyerson nevus commonly shows an inflammatory infiltrate mainly made up of CD4+ T-cells; (d) Sutton nevus with halo phenomenon is accompanied by a dense inflammatory infiltrate with lymphocytes in a CD4:CD8 ratio varying from 1:1 to 1:3 and in which most of the CD8+ T-cells do not express cytotoxic markers; (e) Wiesner nevus commonly shows a spare lymphocytic infiltrate but the nature of the infiltrate has not yet been investigated.

  17. Growth regulation of cultured human nevus cells.

    PubMed

    Mancianti, M L; Györfi, T; Shih, I M; Valyi-Nagy, I; Levengood, G; Menssen, H D; Halpern, A C; Elder, D E; Herlyn, M

    1993-03-01

    Cells isolated from congenital melanocytic nevi and cultured in vitro have growth characteristics that resemble their premalignant stage in situ. A serum-free, chemically defined medium has been developed that allows continuous growth of established nevus cultures for up to several months. Like primary melanoma cells, nevus cells in high-calcium-containing W489 medium require insulin for growth. In contrast to melanoma cells, nevus cells in serum-free medium require the presence of alpha-melanocyte-stimulating hormone, which enhanced intracellular levels of cyclic adenosine monophosphate. In contrast to the requirements of normal human melanocytes from newborn foreskin, congenital nevus cells grow with less dependency on basic fibroblast growth factor (bFGF). Nevus cultures contain bFGF-like activity, and they express bFGF mRNA. Nevic cells of compound nevi also express bFGF mRNA in situ but only in the junctional areas. These results indicate that bFGF plays an important growth regulatory role for nevus cells in vitro and in vivo. PMID:8440904

  18. Primary Sjogren syndrome: clinical and immunopathologic features.

    PubMed

    Fox, R I; Howell, F V; Bone, R C; Michelson, P

    1984-11-01

    Primary Sjogren syndrome is an autoimmune condition in which dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) result from lymphocytic infiltration of lacrimal and salivary glands. Clinical and laboratory features of 60 primary Sjogren syndrome patients seen at our clinic during the past three years are presented. These patients illustrate the wide spectrum of extraglandular features that may occur as a result of lymphoid infiltration of lung, kidney, skin, stomach, liver, and muscle. They further emphasize the difficulty in classifying a patient as primary or secondary Sjogren syndrome (ie, sicca symptoms associated with systemic lupus erythematosus, rheumatoid arthritis, or scleroderma), particularly early in the disease course. As an initial step in understanding the pathogenesis, the lymphocytes that infiltrate the salivary glands and lymph nodes were characterized by using monoclonal antibodies that recognize distinct lymphocyte subsets and by using in vitro functional assays. These studies have demonstrated that affected tissues have infiltrates of T cells with helper/inducer activity and with a high frequency of "activation antigens." The immunohistologic techniques are useful in differentiating "benign" and "pseudolymphoma" lesions (both due predominantly to T cells) from non-Hodgkin lymphoma (usually due to B-cell infiltrates). Although there is no "cure" for primary Sjogren syndrome patient's symptoms may be significantly improved by measures aimed at prevention of ocular and dental complications and by the recognition of extraglandular features that may be amenable to specific treatment.

  19. 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.

  20. 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! ...

  1. Clinical spectrum of Treacher Collins syndrome.

    PubMed

    Mehrotra, Divya; Hasan, Mahdi; Pandey, Rahul; Kumar, Sumit

    2011-01-01

    Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an incidence of 1/50,000 live births, range between 1-40,000 and 1-70,000. We present here the various clinical, radiographical and other diagnostic findings of the TCS to correlate the clinical assessment with the diagnostic imaging and review the various investigations and management options being carried out to improve their facial deformity.

  2. Kissing nevus of the penis.

    PubMed

    Yun, Sook Jung; Wi, Hyun Seung; Lee, Jee-Bum; Kim, Seong-Jin; Won, Young Ho; Lee, Seung-Chul

    2011-11-01

    Kissing or divided nevi are similar in shape to congenital melanocytic nevi located on an adjacent part of the body that are separated during embryogenesis. Kissing nevi of the upper and lower eyelids have been reported infrequently since the first report in 1908. Kissing nevi of the penis are very rare, with only 12 cases being reported until now, and this is the first case report in the Korean dermatological literature. A previously healthy 27-year-old man presented with asymptomatic black colored patches, which were detected 10 years ago, on the glans penis and the prepuce with growth in size. We report here a case of kissing nevus of the penis, which showed an obvious mirror-image symmetry relative to the coronal sulcus.

  3. Bilateral Symmetrical Congenital Giant Becker's Nevus: A Rare Presentation

    PubMed Central

    Rao, Angoori Gnaneshwar

    2015-01-01

    Becker's nevus is a focal epidermal hypermelanotic disorder. It morphologically presents as unilateral, hyperpigmented, hypertrichotic patch on upper trunk, proximal upper extremities and arms. However, Becker's nevus presenting as bilateral, symmetrical patches is rare. Herein, we report a rare case of giant Becker's nevus with bilateral symmetrical presentation in an adult male. PMID:26538733

  4. 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.

  5. 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

  6. Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome

    PubMed Central

    Weiss, Glen J.; Tibes, Raoul; Blaydorn, Lisa; Jameson, Gayle; Downhour, Molly; White, Erica; Caro, Ivor; Von Hoff, Daniel D.

    2011-01-01

    Tumor responses in advanced basal cell carcinoma (BCC) have been observed in clinical trials with vismodegib, a SMO antagonist. The result of SMO antagonism is inhibition Hedgehog Signaling Pathway (HHSP) downstream target genes. HHSP inhibition has been shown to affect stem cells responsible for blood, mammary, and neural development. We report on our experience of treating two patients with advanced BCC participating. These two patients have had no new BCCs develop for at least 2.25 years. Both patients have been receiving ongoing daily treatment with vismodegib for greater than 2.75 years without experiencing any significant side effects. After prolonged continuous daily dosing with a SMO antagonist, we have not observed a significant alteration in hematologic parameters or physical abnormalities of the pectoral regions of two patients with advanced BCC. PMID:25386306

  7. [Clinical and echocardiographic characteristics of scimitar syndrome].

    PubMed

    Espinola-Zavaleta, Nilda; Játiva-Chávez, Silvio; Muñoz-Castellanos, Luis; Zamora-González, Carlos

    2006-03-01

    Seven patients with scimitar syndrome underwent retrospective clinical and echocardiographic examination. The findings were: respiratory infection with dyspnea on moderate exercise in 90%, scimitar sign in four (57%), dextrocardia in five (71%), and interatrial septal defect in five (71%), one of whom had patent ductus arteriosus. Overall, two patients had patent ductus arteriosus: one also had aortic coarctation and the other, a bicuspid aortic valve. Dilation of the right cavities was found in five (71%) and blunt edge in five (71%). In two patients, anomalous drainage was into the right atrium; in another two, into the inferior vena cava; and in three, towards the junction of the right atrium and the inferior vena cava. In three patients, drainage was obstructed. Six patients with cardiac abnormalities proceeded to surgery. Scimitar syndrome is a rare entity. In the large majority of patients (86%), diagnosis and follow-up can be performed echocardiographically.

  8. 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

  9. 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

  10. Kissing nevus of the penis. Report of two cases and review of the literature.

    PubMed

    Wang, Songting; Zhou, Mingshu; Qiao, Jianjun

    2014-01-01

    Kissing nevus is a curious type of nevus that was first described on the eyelids and rarely described on the penis. We report two cases of kissing nevus of the penis and review previously reported cases. The lesions of the kissing nevus of the penis showed characteristic mirror-image symmetry relative to the coronal sulcus. On histopathology, the lesion showed a compound nevus.

  11. 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

  12. 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

  13. [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

  14. 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.

  15. 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

  16. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    PubMed

    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.

  17. Giant congenital melanocytic nevus (bathing trunk nevus) associated with lipoma and neurofibroma: report of two cases.

    PubMed

    Bhagwat, P V; Tophakhane, R S; Shashikumar, B M; Noronha, Tonita M; Naidu, Varna

    2009-01-01

    Giant congenital melanocytic nevi are rare and occur in about one out of every 2,00,000 to 5,00,000 births. There is a significant association between bathing trunk nevus and neurofibromatosis and lipomatosis. Apart from this, association of bathing trunk nevus with abnormalities like spina bifida occulta, meningocele, club foot and hypertrophy or atrophy of deeper structures of a limb, have been described. We are herewith reporting two cases of bathing trunk nevi. In our first case, an eight-year-old girl presented with a bathing trunk nevus studded with multiple, large nodules. Histopathological examination of the biopsy taken from one nodule revealed features of both neurofibroma and lipoma. To the best of our knowledge, features of both these hamartomas in one nodule of a single patient are probably not reported in the literature. In our second case, a 12-year-old girl presented with bathing trunk nevus and she had spina bifida occulta. She also had lipoma in the lesion of bathing trunk nevus. Both of our patients had satellite melanocytic nevi over the face, forearm, upper back and legs. Our second patient, in addition, had small melanocytic nevi over the medial canthus and sclerocorneal junction of the right eye. By the time this girl presented to us, the melanocytic nevus started fading in color and it had become brownish. We are reporting these cases for their peculiarities and for their rare features. PMID:19736430

  18. 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

  19. [Psychomotor disadaptation syndrome: a poorly known clinical entity].

    PubMed

    Lepage, S; Gillain, S; Petermans, J

    2012-02-01

    Psychomotor disadaptation syndrome is a typical geriatric clinical syndrome. It includes postural disorders such as body retropulsion, specific gait disorders, with axial akinesia and hypertonia, and psychobehavioral disorders akin to those found in depression. The diagnosis is essentially based on clinical observation rather than on iconographic data. This syndrome causes falls which induce a fear of falling. The old patient has a tendency to put himself down, to withdraw from society and to lose autonomy. This article briefly describes the physiopathology of the syndrome, recalls the diagnostic tools, and makes some suggestions regarding the care of patients suffering from this clinical entity.

  20. Postural orthostatic tachycardia syndrome: a clinical review.

    PubMed

    Johnson, Jonathan N; Mack, Kenneth J; Kuntz, Nancy L; Brands, Chad K; Porter, Coburn J; Fischer, Philip R

    2010-02-01

    Postural orthostatic tachycardia syndrome was defined in adult patients as an increase >30 beats per minute in heart rate of a symptomatic patient when moving from supine to upright position. Clinical signs may include postural tachycardia, headache, abdominal discomfort, dizziness/presyncope, nausea, and fatigue. The most common adolescent presentation involves teenagers within 1-3 years of their growth spurt who, after a period of inactivity from illness or injury, cannot return to normal activity levels because of symptoms induced by upright posture. Postural orthostatic tachycardia syndrome is complex and likely has numerous, concurrent pathophysiologic etiologies, presenting along a wide spectrum of potential symptoms. Nonpharmacologic treatment includes (1) increasing aerobic exercise, (2) lower-extremity strengthening, (3) increasing fluid/salt intake, (4) psychophysiologic training for management of pain/anxiety, and (5) family education. Pharmacologic treatment is recommended on a case-by-case basis, and can include beta-blocking agents to blunt orthostatic increases in heart rate, alpha-adrenergic agents to increase peripheral vascular resistance, mineralocorticoid agents to increase blood volume, and serotonin reuptake inhibitors. An interdisciplinary research approach may determine mechanistic root causes of symptoms, and is investigating novel management plans for affected patients.

  1. Spitz nevus arising in the eyelid of a teenager.

    PubMed

    Shields, Patrick W; Jakobiec, Frederick A; Stagner, Anna M; Yoon, Michael K

    2016-01-01

    A 16-year-old boy developed over a 2-month interval a lightly pigmented left upper eyelid lesion measuring 1.5 mm in greatest diameter that, when excised, microscopically was hypercellular and composed almost exclusively of nonpigmented epithelioid cells that created florid, large intraepidermal junctional nests and sheets and nests of subepidermal cells. The diagnosis was a Spitz nevus. HMB-45, MART-1, and microphthalmia-associated transcription factor were all positive and established the melanocytic nature of the benign tumor. The Ki-67 proliferation index (5%) and 2 mitoses/mm(2) were both low; p16 protein was immunohistochemically identified in the nevoid cells. We review the clinical, histopathologic, and other immunohistochemical features of this entity and provide a brief differential diagnosis (including separation from a Spitzoid melanoma). This is only the third eyelid Spitz nevus reported in the literature and is the most fully characterized immunohistochemically. At their present stage of development, contemporary immunohistochemical biomarkers, while providing supplemental information, nonetheless remain less than definitive in terms of reliably distinguishing benign from malignant Spitz lesions.

  2. [Clinical phenotypes and prognosis of antisynthetase syndrome].

    PubMed

    Hervier, B; Benveniste, O

    2014-07-01

    Antisynthetase syndrome (ASS) was first described in 1989 as an inflammatory myopathy associated with the presence of specific auto-antibodies, namely the anti-tRNA-synthetase antibodies (ASA). To date, the ASA family comprises eight different auto-antibodies, among which anti-hystidyl-tRNA-synthetase (anti-Jo1) is the most prevalent. In addition to myositis, a constellation of clinical features has also been described in ASS, including interstitial lung disease, Raynaud's phenomenon, polyarthritis, fever and mechanic's hands. Large variations in the distribution and the severity of each of these symptoms are reported from one patient to another, and also over the course of the disease. The heterogeneity of this autoimmune connective tissue disease has led to difficulties in the early identification of patients with a poor outcome (those who will require the most intensive treatments). Additionally, very few prospective trials have so far compared the efficacy of the different immunosuppressive drugs available, and evidence is lacking to help adapting therapeutic strategies to all of the different ASS clinical situations. We will review the different characteristics of ASS (namely biological, clinical, functional, and morphological ASS parameters) that have recently been shown to correlate with patients' outcome, our aim being to discuss the usefulness of patient stratification for elaborating targeted therapeutic trials for ASS in the future.

  3. 2008 Clinical approach to irritable bowel syndrome.

    PubMed

    Astegiano, M; Pellicano, R; Sguazzini, C; Berrutti, M; Simondi, D; Reggiani, S; Rizzetto, M

    2008-09-01

    Irritable bowel syndrome (IBS), as defined by Rome III diagnostic criteria, affects 10-20% of the general population, with women 20-40 years old accounting for the majority of patients. Although variable and intermittent, IBS symptoms may persist for many years. Repeated referrals for medical consultation and diagnostic studies generate huge healthcare costs. Since there is no evidence that IBS leads to more severe gastrointestinal disorders, in absence of alarm symptoms or signs, an invasive diagnostic algorithm is not indicated. Optimal treatment for IBS still needs to be defined. The clinical approach is based on treatment of the prevalent symptom. When pain predominates, antispasmodics are the first choice. In case of diarrhea, loperamide is useful for reducing bowel frequency. Soluble fiber represents the first option in subjects with IBS and constipation or mixed IBS. Dietary integrators composed of probiotics and serotonin precursors are a promising therapeutic option. PMID:18614974

  4. 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. PMID:27570435

  5. 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

  6. Clinical Characteristics of Fuchs’ Uveitis Syndrome

    PubMed Central

    Nalçacıoğlu, Pınar; Çakar Özdal, Pınar; Şimşek, Mert

    2016-01-01

    Objectives: To evaluate the clinical and demographic properties of Fuchs’ uveitis syndrome (FUS) in Turkish patients. Materials and Methods: The medical records of 161 patients with FUS followed in the Uveitis Division of Ulucanlar Eye Hospital between 1996 and 2014 were respectively reviewed. The mean age at diagnosis, sex, the number of affected eyes, follow-up period, clinical findings at presentation, complications during the follow-up period, medical and surgical treatments, and best corrected visual acuity at the initial and final visits were recorded. Results: The study included 171 eyes of 161 patients diagnosed with FUS. Of the patients, 94 (58.4%) were female and 67 (41.6%) were male. The mean age at presentation was 35.2±11.0 (11-65) years. The mean follow-up period was 23.5±32.8 (2-216) months. Ten (6.2%) patients had bilateral involvement. The most common symptoms at presentation were decreased visual acuity or blurred vision in 63 (39.1%) and floaters in 19 (11.8%) patients. Clinical findings at presentation included diffuse small, round, white keratic precipitates in 128 (74.8%) eyes, anterior chamber reaction in 82 (47.9%), vitreous cells in 122 (71.3%), heterochromia in 47 (27.4%) and iris nodules in 32 (18.7%) eyes. During the follow-up period, elevated intraocular pressure occured in 31 (18.1%) eyes and the most common complication was cataract development (89 eyes, 52.0%). Conclusion: Heterochromia was observed in 27.4% of patients in our study. However, the diffuse small, round keratic precipitates, low-grade anterior chamber reaction and varying degrees of vitreous reaction are more common clinical characteristics that are helpful in making the diagnosis. PMID:27800260

  7. Thromboembolic complications in the nephrotic syndrome: pathophysiology and clinical management.

    PubMed

    Singhal, Rajni; Brimble, K Scott

    2006-01-01

    Patients with the nephrotic syndrome are at increased risk of developing venous and arterial thromboembolism, the most common of which is renal vein thrombosis. There are several unanswered or controversial issues relating to the nephrotic syndrome and thromboembolism, which include the mechanism of thromboembolism, and optimal diagnostic and anticoagulant management strategies. This review will discuss several of these issues: the epidemiology and clinical spectrum of thromboembolic disease occurring in patients with the nephrotic syndrome; the pathophysiology of the hypercoagulable state associated with the nephrotic syndrome; the diagnosis of renal vein thrombosis in the nephrotic syndrome; and the evidence for prophylactic and therapeutic anticoagulation strategies in such patients.

  8. Atypical histopathologic features in a melanocytic nevus after cryotherapy and pregnancy.

    PubMed

    Wilford, Casey E; Brantley, Julie S; Diwan, A Hafeez

    2014-10-01

    Melanocytic nevi can undergo clinical and histopathologic changes during pregnancy, as well as after various forms of surgical and nonsurgical trauma. We report the case of a 9-month postpartum 29-year-old female who presented to her dermatologist with a clinically worrisome nevus. This nevus had been treated with liquid nitrogen by her primary care physician 6 months prior to presentation. Histopathologic evaluation revealed a crowded proliferation of atypical melanocytes at the dermal-epidermal junction overlying a scar. The dermal component contained scattered mitotic figures. A combined MART-1, tyrosinase and Ki-67 immunohistochemical study showed foci of increased melanocytic proliferation. These atypical features were interpreted as associated with both the prior cryotherapy, as well as her recent pregnancy. Knowledge of the clinical context in evaluating difficult melanocytic lesions is essential.

  9. [Asperger syndrome: evolution of the concept and current clinical data].

    PubMed

    Aussilloux, C; Baghdadli, A

    2008-05-01

    Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

  10. Olmsted syndrome: clinical, molecular and therapeutic aspects.

    PubMed

    Duchatelet, Sabine; Hovnanian, Alain

    2015-03-17

    Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. Frequently associated features include hair and nail abnormalities, leukokeratosis, corneal default and recurrent infections. Pain and itching are variable but can be severe. Most of reported OS cases are sporadic, although familial cases with different mode of inheritance were also described. Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS. Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form. The diagnosis relies mainly on clinical features associating severe PPK and periorificial keratotic plaques, but can be challenging in patients with incomplete phenotype or atypical features. OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefèvre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. When differential diagnoses are difficult to exclude, genetic studies are essential to search for a TRPV3 or MBTPS2 mutation. However, additional genes remain to be identified. No specific and satisfactory therapy is currently available for OS. Current treatments of hyperkeratosis (mainly emollients, keratolytics, retinoids or corticosteroids), either topical or systemic, are symptomatic and offer only temporary partial relief. Specific management of pain and

  11. Epidermolysis bullosa nevus in a patient with recessive dystrophic epidermolysis bullosa: a case report.

    PubMed

    Fening, Katherine; Theos, Amy; Andea, Aleodor; Vincent, Bethaney; Busam, Klaus; McKay, Kristopher

    2014-12-01

    We present a case of a 6-year-old girl with recessive dystrophic epidermolysis bullosa (EB) who presented with a large pigmented lesion clinically concerning for melanoma. After histological examination and fluorescent in situ hybridization analysis, diagnosis of EB nevus was performed. EB nevi are benign melanocytic neoplasms with histological findings similar to recurrent nevi occurring in all types of EB. They often mimic melanoma clinically, dermatoscopically, and histopathologically. The ability to recognize an EB nevus is essential for appropriate management of the patient. Unnecessary surgical excision in patients with already high-risk EB should be avoided. Close monitoring of these lesions is recommended because no cases of transformation to melanoma have been described.

  12. 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

  13. [Alagille's syndrome. Clinical and histo-pathologic study].

    PubMed

    Moreno Giménez, J C; del Rio Mapelli, L; Camacho Martinez, F

    1984-01-01

    Alagille 's syndrome, described in 1970, associates a chronic intrahepatic cholestasis (hypoplasia of the interlobulary biliary ducts), vertebral and visceral malformations, retarded physical, mental and sexual development and neonatal jaundice. A series of cutaneous manifestations are reviewed in their clinical, histological and ultrastructural aspects. Its relation with the zinc deficiency syndrome is discussed. PMID:6732121

  14. 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…

  15. [Detection of papilloma virus in Heck's focal epithelial hyperplasia and the differential diagnosis of white-sponge nevus].

    PubMed

    Kuhlwein, A; Nasemann, T; Jänner, M; Schaeg, G; Reinel, D

    1981-12-01

    Clinical, histological, and electron microscopical findings helped in to differentiating hyperplasia of a Turkish boy's oral mucosa as Heck's disease, and the hyperplasia of a young German man's oral mucosa as white sponge nevus. Electron microscopic investigations confirmed the presence of papillomavirus in the lesions of FEH.

  16. 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

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

    PubMed

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

    2015-04-01

    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

  18. The Alteration of the Epidermal Basement Membrane Complex of Human Nevus Tissue and Keratinocyte Attachment after High Hydrostatic Pressurization

    PubMed Central

    Jinno, Chizuru; Sakamoto, Michiharu; Kakudo, Natsuko; Inoie, Masukazu; Fujisato, Toshia; Suzuki, Shigehiko; Kusumoto, Kenji; Yamaoka, Tetsuji

    2016-01-01

    We previously reported that human nevus tissue was inactivated after high hydrostatic pressure (HHP) higher than 200 MPa and that human cultured epidermis (hCE) engrafted on the pressurized nevus at 200 MPa but not at 1000 MPa. In this study, we explore the changes to the epidermal basement membrane in detail and elucidate the cause of the difference in hCE engraftment. Nevus specimens of 8 mm in diameter were divided into five groups (control and 100, 200, 500, and 1000 MPa). Immediately after HHP, immunohistochemical staining was performed to detect the presence of laminin-332 and type VII collagen, and the specimens were observed by transmission electron microscopy (TEM). hCE was placed on the pressurized nevus specimens in the 200, 500, and 1000 MPa groups and implanted into the subcutis of nude mice; the specimens were harvested at 14 days after implantation. Then, human keratinocytes were seeded on the pressurized nevus and the attachment was evaluated. The immunohistochemical staining results revealed that the control and 100 MPa, 200 MPa, and 500 MPa groups were positive for type VII collagen and laminin-332 immediately after HHP. TEM showed that, in all of the groups, the lamina densa existed; however, anchoring fibrils were not clearly observed in the 500 or 1000 MPa groups. Although the hCE took in the 200 and 500 MPa groups, keratinocyte attachment was only confirmed in the 200 MPa group. This result indicates that HHP at 200 MPa is preferable for inactivating nevus tissue to allow its reuse for skin reconstruction in the clinical setting. PMID:27747221

  19. Ellis-van Creveld syndrome: A rare clinical entity.

    PubMed

    Kamal, Reet; Dahiya, Parveen; Kaur, Simerpreet; Bhardwaj, Rohit; Chaudhary, Karun

    2013-01-01

    Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

  20. Expanding the clinical picture of Simpson-Golabi-Behmel syndrome.

    PubMed

    Young, Esther L; Wishnow, Robin; Nigro, Michael A

    2006-02-01

    This report describes a 14-year-old male with Simpson-Golabi-Behmel overgrowth syndrome. He was born via cesarean section because of macrocephaly and subsequently exhibited significant developmental delay in motor, language, and cognitive skills with mental retardation and epilepsy. He manifests the characteristic dysmorphic ("bulldog") facial features of Simpson-Golabi-Behmel syndrome. His molecular genetic testing has substantiated the clinical diagnosis of Simpson-Golabi-Behmel syndrome; however, he is unique in that he has mental retardation, hydrocephalus, and epilepsy, which have not been previously documented in Simpson-Golabi-Behmel syndrome in the literature.

  1. Clinical features of the exploding head syndrome.

    PubMed Central

    Pearce, J M

    1989-01-01

    Fifty patients suffering from the "exploding head syndrome" are described. This hitherto unreported syndrome is characterised by a sense of an explosive noise in the head usually in the twilight stage of sleep. The associated symptoms are varied, but the benign nature of the condition is emphasised and neither extensive investigation nor treatment are indicated. PMID:2769286

  2. Melanocytic Nevus on the Rectal Mucosa Removed Using Endoscopic Submucosal Dissection.

    PubMed

    Kim, Seong Min; Shin, Yoon Ji; Sim, Ju Sung; Lee, Beon Jae; Joo, Moon Kyung; Park, Jong-Jae; Bak, Young-Tae

    2016-07-01

    Melanocytic nevus is the benign proliferation of melanocytes. The most common location of melanocytic nevus is the skin of the extremities; however, there are few case reports of melanocytic nevus at the rectal mucosa. No prior case of malignant melanoma from melanocytic nevus at the rectal mucosa has been reported; therefore, it is unclear whether resection should be performed or close observation is sufficient. However, the potential malignant transformation of melanocytic nevus should be considered, including melanocytic nevus on the rectum. Melanocytic nevus of the skin can be removed by surgical excision; however, due to rare incidence on the mucosa of the gastrointestinal tract, the optimal treatment for rectal melanocytic nevus remains controversial. Here, we report the first case of melanocytic nevus on the rectal mucosa that was removed by endoscopic submucosal dissection. This case report provides useful information about the optimal management of rectal melanocytic nevus.

  3. Tumor lysis syndrome: A clinical review.

    PubMed

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

    2015-05-01

    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

  4. Familial papular epidermal nevus with "skyline" basal cell layer.

    PubMed

    Brena, Michela; Besagni, Francesca; Boneschi, Vinicio; Tadini, Gianluca

    2014-01-01

    Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits.

  5. An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

    PubMed

    Verhagen, Judith M A; Oostdijk, Wilma; Terwisscha van Scheltinga, Cecilia E J; Schalij-Delfos, Nicoline E; van Bever, Yolande

    2014-09-01

    Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis. PMID:24862881

  6. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report

    PubMed Central

    Kulkarni, Gayithri Harish; Khaji, Shahanavaj I.; Metkari, Suryakant; Kulkarni, Harish S.; Kulkarni, Reshma

    2014-01-01

    Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice. PMID:25191087

  7. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.

    PubMed

    Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

    2014-07-01

    Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  8. 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,…

  9. [Battered child syndrome: clinical and radiological aspects].

    PubMed

    Jlalia, Zied; Znaigui, Talel; Smida, Mahmoud

    2016-01-01

    Physical child abuse or battered child syndrome is responsible for over 75.000 deaths per year in France. This public health problem is under-diagnosed in Tunisia and in the world. The path toward the recognition of battered child syndrom was arduous even in some western societies. This study aims to highlight this problem to healthcare practitioners in order that accurate diagnosis and appropriate management may be provided. Physical child abuse has wrongly been referred to as Silverman syndrome that includes only skeletal lesions in children such as fractures. PMID:27642408

  10. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    PubMed

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  11. Predictors of clinical pain intensity in patients with fibromyalgia syndrome.

    PubMed

    Staud, Roland

    2004-08-01

    Central changes in pain processing have been previously reported in patients with fibromyalgia syndrome. These changes include decreased thresholds to mechanical and thermal stimuli (allodynia) and central sensitization, both of which are fundamental to the generation of clinical pain. Therefore, psychophysical measures of central pain processing may be useful predictors of clinical pain intensity of fibromyalgia syndrome patients. Previous studies of fibromyalgia syndrome patients have shown statistically significant correlations of psychophysical test results with clinical pain intensity. The tests used to characterize this important relationship were dependent on spinal cord pain mechanisms and included temporal summation of pain or wind-up and wind-up after-sensations. Particularly, the magnitude of wind-up after-sensations appeared to be one of the best predictors for clinical pain intensity of fibromyalgia syndrome patients (27%). Furthermore, the combination of tender point count, negative affect, and wind-up after-sensations accounted for approximately 50% of the variance in clinical pain intensity of fibromyalgia syndrome patients. Therefore, wind-up after-sensations, tender point count, and negative affect not only seem to represent relevant pain mechanisms but also strongly emphasize their importance for fibromyalgia syndrome pain.

  12. 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)

  13. Hantavirus pulmonary syndrome: a concise clinical review.

    PubMed

    Vinh, Donald C; Embil, John M

    2009-06-01

    In 1978, hantaviruses were first described as the etiological agent of hemorrhagic fever with renal syndrome (HFRS) in Korea. Since then, numerous related, enveloped, negative-stranded RNA viruses have been identified, forming the genus Hantavirus within the family Bunyaviridae. These pathogens are distributed worldwide and thus can be classified, on the basis of phylogenetic origins, into Old World viruses or New World viruses (ie North, Central, and South America). Similarly, these viruses cause two major types of syndromes, corresponding respectively to their phylogenies: the original HFRS or the more recently described hantavirus pulmonary syndrome (HPS). As the hantavirus pulmonary syndrome is the primary hantaviral disease in North America, it will thus be the focus of this review. PMID:19434035

  14. Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes.

    PubMed

    Cantó, Ester; Tintoré, Mar; Villar, Luisa M; Costa, Carme; Nurtdinov, Ramil; Álvarez-Cermeño, José C; Arrambide, Georgina; Reverter, Ferran; Deisenhammer, Florian; Hegen, Harald; Khademi, Mohsen; Olsson, Tomas; Tumani, Hayrettin; Rodríguez-Martín, Eulalia; Piehl, Fredrik; Bartos, Ales; Zimova, Denisa; Kotoucova, Jolana; Kuhle, Jens; Kappos, Ludwig; García-Merino, Juan Antonio; Sánchez, Antonio José; Saiz, Albert; Blanco, Yolanda; Hintzen, Rogier; Jafari, Naghmeh; Brassat, David; Lauda, Florian; Roesler, Romy; Rejdak, Konrad; Papuc, Ewa; de Andrés, Clara; Rauch, Stefan; Khalil, Michael; Enzinger, Christian; Galimberti, Daniela; Scarpini, Elio; Teunissen, Charlotte; Sánchez, Alex; Rovira, Alex; Montalban, Xavier; Comabella, Manuel

    2015-04-01

    Chitinase 3-like 1 (CHI3L1) has been proposed as a biomarker associated with the conversion to clinically definite multiple sclerosis in patients with clinically isolated syndromes, based on the finding of increased cerebrospinal fluid CHI3L1 levels in clinically isolated syndrome patients who later converted to multiple sclerosis compared to those who remained as clinically isolated syndrome. Here, we aimed to validate CHI3L1 as a prognostic biomarker in a large cohort of patients with clinically isolated syndrome. This is a longitudinal cohort study of clinically isolated syndrome patients with clinical, magnetic resonance imaging, and cerebrospinal fluid data prospectively acquired. A total of 813 cerebrospinal fluid samples from patients with clinically isolated syndrome were recruited from 15 European multiple sclerosis centres. Cerebrospinal fluid CHI3L1 levels were measured by enzyme-linked immunosorbent assay. Multivariable Cox regression models were used to investigate the association between cerebrospinal fluid CHI3L1 levels and time to conversion to multiple sclerosis and time to reach Expanded Disability Status Scale 3.0. CHI3L1 levels were higher in patients who converted to clinically definite multiple sclerosis compared to patients who continued as clinically isolated syndrome (P = 8.1 × 10(-11)). In the Cox regression analysis, CHI3L1 levels were a risk factor for conversion to multiple sclerosis (hazard ratio = 1.7; P = 1.1 × 10(-5) using Poser criteria; hazard ratio = 1.6; P = 3.7 × 10(-6) for McDonald criteria) independent of other covariates such as brain magnetic resonance imaging abnormalities and presence of cerebrospinal fluid oligoclonal bands, and were the only significant independent risk factor associated with the development of disability (hazard ratio = 3.8; P = 2.5 × 10(-8)). High CHI3L1 levels were associated with shorter time to multiple sclerosis (P = 3.2 × 10(-9) using Poser criteria; P = 5.6 × 10(-11) for McDonald criteria

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

    PubMed

    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.

  16. 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. PMID:27313934

  17. Munchausen Syndrome by Proxy: A Clinical Vignette

    PubMed Central

    Zylstra, Robert G.; Miller, Karl E.; Stephens, Walter E.

    2000-01-01

    Munchausen syndrome by proxy is the act of one person fabricating or inducing an illness in another to meet his or her own emotional needs through the treatment process. The diagnosis is poorly understood and controversial. We report here the case of a 6-year-old boy who presented with possible pneumonia, nausea, vomiting, and diarrhea and whose mother was suspected of Munchausen syndrome by proxy. PMID:15014581

  18. Non pigmented melanocytic nevus of the oral cavity: a case report with emphasis on the surgical excision procedures.

    PubMed

    Porrini, R; Valente, G; Colombo, E; Cannas, M; Sabbatini, M

    2013-01-01

    We report a case of a 37-year-old caucasian woman presenting a 1 cm pinkish nodular asymptomatic lesion of the hard palate, slowly growing in the last years. The lesion underwent to biopsy. Histological analysis showed the nevus tissue layered under a continuous squamous epithelium. The stroma contained nests of medium-sized round cells, with regular monomorphous nuclei. The nevus cells were immunohistochemically positive for S-100 protein, while melanin, visualized by Masson-Fontana silver staining, was absent. Therefore a diagnosis of non pigmented melanocytic nevus was formulated. Because of its rarity and to avoid any risk of malignant transformation, a surgical treatment with wide excision was chosen; the surgical wound was previously covered with a membrane of fibrin and autologous platelets, and subsequently sutured, resulting in a total heal. This procedure seems to be the most reliable to approach melanocytic lesions of the oral cavity. Clinical diagnosis of non-pigmented nevi, either flat or protruding, is difficult, because the nevus shows a pinkish colour that is indistinguishable from that of the surrounding mucosa. Moreover, attention is required when similar clinical evidence occurs, because the localization inside the oral cavity may offer several problems of differential diagnosis.

  19. [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

  20. 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.

  1. 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

  2. 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.…

  3. 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

  4. 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

  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.

  6. 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

  7. [Sneddon syndrome new clinical and immunological data].

    PubMed

    Kalashnikova, L A; Chapman, I; Nasonov, E L; Korchin, A; Aleksandrova, E N; Shavit, S; Reshetniak, T M; Kosheleva, N M

    1998-01-01

    In 27 of 47 patients with Sneddon's syndrome (33 females, 14 males age 40 years) enzyme immunoassay has detected IgG-antibodies to prothrombin (aPT)--one of cofactor proteins responsible for binding of antiphospholipid antibodies (aPL) to phospholipids. Other aPL were also found: antibodies to cardiolipin (aCL), lupus anticoagulant (LA) in 14 and 27 patients, respectively. 37 (79%) patients had at least one of the studied aPL suggesting that such patients belong to patients with primary antiphospholipid syndrome. A correlation exists between aPT and LA: LA is detectable in 67% of aPT-positive patients compared to 45% of aPT-negative patients (p < 0.05). This is in agreement with the fact that prothrombin is a cofactor for most aPL registered as LA. Comparison of two subgroups of aPL patients different by dominant antigenic specificity (18 patients with aPT but free of ACL and 6 patients with aCP but free of aPT) demonstrated that the latter developed disorders of cerebral circulation, head ache, dementia and renal syndrome less frequently. aPT in Sneddon's syndrome seems to be a marker of comparatively low risk of thrombosis and less severe course of the disease. PMID:9693498

  8. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Niepokój, Katarzyna; Wertheim-Tysarowska, Katarzyna; Giza, Aleksandra; Mordasewicz-Goliszewska, Maria; Bal, Jerzy; Obersztyn, Ewa

    2015-08-01

    Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification. PMID:25575739

  9. Treatment of nevus comedonicus with ammonium lactate lotion.

    PubMed

    Milton, G P; DiGiovanna, J J; Peck, G L

    1989-02-01

    A patient with an extensive nevus comedonicus, which is associated frequently with the development of large inflammatory cysts and abscesses within the nevus, responded dramatically within 1 month to a once-daily application of 12% ammonium lactate lotion. A marked beneficial effect on the comedonal component of the nevus was noted. One inflammatory cyst has developed in an area left untreated by the patient, but none have occurred in treated areas since therapy with ammonium lactate lotion was begun. Previous treatments, which were either ineffective or of minimal effectiveness, included oral isotretinoin, topical tretinoin, salicylic acid, lactic acid, and d-tartaric acid creams.

  10. Agminated melanocytic nevus status post dabrafenib therapy for metastatic melanoma.

    PubMed

    Agulló, Alfredo; Hinds, Brian; Santesteban, Raquel; Mitxelena, Josune Mitxelena; Yanguas, Ignacio

    2016-01-01

    Agminated melanocytic nevus is an uncommon type of mole, characterized by a local group of macular or papular pigmented lesions, well demarcated, without a common pigmented background. This pattern has also been associated with Spitz nevi, dysplastic melanocytic nevi, and non-melanocytic lesions.We describe the onset of an acquired agminated melanocytic nevus after dabrafenib treatment. Our case highlights paradoxical MAPK activation in the setting of single-agent BRAF blockade and underscores the importance of characterizing the diverse side effects of selective BRAF inhibitors. This is the first case, to our knowledge, of agminated melanocytic nevus in association with dabrafenib. PMID:27617734

  11. Clinical predictors of lacunar syndrome not due to lacunar infarction

    PubMed Central

    2010-01-01

    Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004). Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879) of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62), sensorimotor stroke (OR = 4.05), limb weakness (OR = 2.09), sudden onset (OR = 2.06) and age (OR = 0.96) were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient with atrial

  12. 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

  13. 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

  14. Patellofemoral pain syndrome: validity of clinical and radiological features.

    PubMed

    Haim, Amir; Yaniv, Moshe; Dekel, Samuel; Amir, Hagay

    2006-10-01

    Data regarding validity of clinical and radiographic findings in diagnosing patellofemoral pain syndrome are inconclusive. We prospectively assessed how sensitive and specific key patellofemoral physical examination tests are, and evaluated the prevalence of physical examination and radiographic findings. Sixty-one infantry soldiers with patellofemoral pain syndrome and 25 control subjects were evaluated. The sensitivity of the patellar tilt, active instability, patella alta, and apprehension tests was low (less than 50%); specificity ranged between 72% and 100%. Although the prevalence of positive patellar tilt and active instability tests was significantly greater in subjects with patellofemoral pain syndrome, there were no significant differences between the groups in the results of the other two tests. Soldiers with patellofemoral pain syndrome presented with increased quadriceps angle, lateral and medial retinacular tenderness, patellofemoral crepitation, squinting patella, and reduced mobility of the patella. There were no differences between the groups in the prevalence of lower limb and foot posture alignment and knee effusion. Plain radiography showed increased patellar subluxation in soldiers with patellofemoral pain syndrome. Other radiographic measures (sulcus angle, Laurin angle, Merchant angle, and Insall-Salvati index) were similar in both groups. We provide evidence regarding the validity of clinical and radiographic features commonly used for diagnosing patellofemoral pain syndrome. Physical examinations were more useful than plain radiography. PMID:16788411

  15. 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

  16. 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 ...

  17. Becker nevus with vitiligo and lichen planus: Cocktail of dermatoses

    PubMed Central

    Gupta, Sanjeev; Gupta, Sunita; Aggarwal, Kamal; Jain, Vijay Kumar

    2010-01-01

    Context: Becker nevus has been reported to be associated with lichen planus (LP) in isolated case reports in past. The association of LP and vitiligo has been noted in few cases and has been attributed to a common autoimmune etiology. The coexistence of lichen planus, vitiligo and Becker nevus has not been reported so far. Case Report: A thirty five years old male presented with lesions of Becker nevus along with vitiligo and Lichen planus coexisting at one place on right side of the chest. Vitiligo and Becker nevus could not be treated. Lichen planus was confirmed histopathologically. We were able to treat lichen planus with topical potent steroids, tacrolimus and systemic antihistamines. The vitiligo lesion in our case was resistant to treatment. Conclusion: This case is being reported for the rare occurrence of three different well defined skin conditions in our patient and reviews the possible known etiological factors for their coexistence. PMID:22558584

  18. 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

  19. Carpal tunnel syndrome - anatomical and clinical correlations.

    PubMed

    Iskra, Tomasz; Mizia, Ewa; Musial, Agata; Matuszyk, Aleksandra; Tomaszewski, Krzysztof A

    2013-01-01

    Carpal tunnel syndrome (CTS) is the most common and widely known of the entrapment neuropathies in which the body's peripheral nerves are compressed. Common symptoms of CTS involve the hand and result from compression of the median nerve within the carpal tunnel. In general, CTS develops when the tissues around the median nerve irritate or compress on the nerve along its course through the carpal tunnel, however often it is very difficult to determine cause of CTS. Proper treatment (conservative or surgical) usually can relieve the symptoms and restore normal use of the wrist and hand.

  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. 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.

  2. Clinical Presentations of Coenzyme Q10 Deficiency Syndrome

    PubMed Central

    Quinzii, Catarina M.; Emmanuele, Valentina; Hirano, Michio

    2014-01-01

    Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ10 deficiency predominantly presents in childhood. To date, causative mutations have been identified in a small proportion of patients, making it difficult to identify a phenotype-genotype correlation. Identification of CoQ10 deficiency is important because the disease, in particular muscle symptoms and nephropathy, frequently responds to CoQ10 supplementation. PMID:25126046

  3. 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

  4. 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.

  5. 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

  6. 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)

  7. Sjögren-Larsson syndrome in clinical practice.

    PubMed

    Fuijkschot, Joris; Theelen, Thomas; Seyger, Marieke M B; van der Graaf, Marinette; de Groot, Imelda J M; Wevers, Ron A; Wanders, Ronald J A; Waterham, Hans R; Willemsen, Michèl A A P

    2012-11-01

    This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.

  8. 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.

  9. Fat embolism syndrome: Case report of a clinical conundrum.

    PubMed

    Nandi, Roneeta; Venkategowda, Pradeep Marur; Mutkule, Dnyaneshwar; Rao, Surath Manimala

    2014-07-01

    Fat embolism syndrome is a rare clinical condition associated with trauma, particularly of long bones. FES after fracture of neck of femur or head of humerus is uncommon. We report a case of FES following fracture in neck of femur and head of humerus in a man with history of mitral valve replacement, on long-term oral anticoagulant therapy, with an alleged history of convulsions. Our dilemma in clinical diagnosis is discussed. PMID:25190956

  10. Rett syndrome: clinical review and genetic update

    PubMed Central

    Weaving, L; Ellaway, C; Gecz, J; Christodoulou, J

    2005-01-01

    Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat. PMID:15635068

  11. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

    PubMed Central

    2014-01-01

    Background Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father together with a gene-by-gene testing approach led us to the proper diagnosis. Case presentation We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. Subsequently, the proband was also found to have type-1 Arnold-Chiari malformation in association with syringomyelia. Conclusion Our experience suggests that differential clinical diagnosis among RASopathies remains ambiguous and raises doubts on the current diagnostic clinical criteria. In some cases, genetic tests represent the only conclusive proof for a correct diagnosis and, consequently, for establishing individual prognosis and providing adequate follow-up. Thus, molecular testing represents an essential tool in differential diagnosis of RASophaties. This view is further strengthened by the increasing accessibility of new sequencing techniques. Finally, to our knowledge, the described case represents the third report of the occurrence of Arnold Chiari malformation and the second description of syringomyelia with

  12. Comprehensive clinical management of polycystic ovary syndrome.

    PubMed

    Setji, T L; Brown, A J

    2007-06-01

    Polycystic ovary syndrome (PCOS) affects 6-7% of reproductive-aged women. Although the diagnostic criteria for PCOS have been debated, it is frequently characterized by hyperandrogenism (hirsutism, acne, male-pattern hair loss), oligo-anovulation, and polycystic ovaries on ultrasound. The reproductive and metabolic complications associated with the syndrome can be serious, so a comprehensive approach to the evaluation and treatment of affected women is important. Menstrual cycle control is necessary to prevent endometrial hyperplasia, and this can be accomplished with hormonal contraception, progesterone therapy, and weight loss (if overweight). In women desiring pregnancy, commonly used ovulation induction therapies include weight loss, clomiphene citrate, and/or metformin. Cosmetic issues such as hirsutism, acne and male-pattern hair loss can be challenging to cope with. Treatment options include estrogen-containing hormonal contraceptive agents, antiandrogens, and topical agents. More permanent hair reduction can be achieved with electrolysis and laser therapy. Evaluation of metabolic complications includes risk assessment for diabetes, dyslipidemia, hypertension, and nonalcoholic fatty liver disease. Women with PCOS should also be screened for sleep apnea, as this has been reported to occur more commonly in women with PCOS. Finally, mental health issues such as depression and eating disorders may be present. Many of the complications associated with PCOS can be managed with therapeutic lifestyle change, including a healthy diet, exercise, weight loss (if overweight), and psychological support. Pharmacological therapies are also available to effectively regulate menstrual cycles and manage cosmetic complications. This article will review the current diagnostic and therapeutic strategies in PCOS.

  13. The clinical recognition and differential diagnosis of Rett syndrome.

    PubMed

    Trevathan, E; Naidu, S

    1988-01-01

    Rett syndrome (RS) is characterized by progressive loss of intellectual functioning and fine and gross motor skills as well as development of stereotypic hand movement abnormalities, occurring after 6 to 18 months of normal development. Rett syndrome has been previously reported only in girls, but the possibility of the syndrome existing in male children cannot be currently excluded. Although the syndrome is thought to be relatively common, it was only described in the English literature 5 years ago. There is currently no marker for the syndrome; diagnosis is based on clinical criteria. The newly developed diagnostic criteria for RS are reviewed, with special attention given to the historical aspects of the diagnosis in the prenatal, perinatal, neonatal, and early childhood periods. Rett syndrome is characterized by a predictable, orderly progression of signs and symptoms. Four stages of RS have been described; each stage has special characteristics and offers different diagnostic challenges for the neurologist. Infantile autism is the most common incorrect diagnosis made for children with RS. The simultaneous regression of both motor and language skills, as well as the stereotypic hand movements, hyperventilation, bruxism, and seizures in early childhood are all typical in RS and help distinguish RS from infantile autism.

  14. Clinical study of 39 patients with atypical lacunar syndrome.

    PubMed

    Arboix, A; López-Grau, M; Casasnovas, C; García-Eroles, L; Massons, J; Balcells, M

    2006-03-01

    The aim of this study was to describe the clinical characteristics of atypical lacunar syndrome (ALS) based on data collected from a prospective acute stroke registry. In total, 2500 acute stroke patients were included in a hospital based prospective stroke registry over a 12 year period, of whom 39 were identified as having ALS and radiologically proven (by computed tomography or magnetic resonance imaging) lacunes. ALS accounted for 1.8% of all acute stroke patients, 2.1% of acute ischaemic stroke, and 6.8% of lacunar syndromes. ALS included dysarthria facial paresis (n = 12) or isolate dysarthria (n = 9), isolated hemiataxia (n = 4), pure motor hemiparesis with transient internuclear ophthalmoplegia (n = 4), pure motor hemiparesis with transient subcortical aphasia (n = 3), unilateral (n = 2) or bilateral (n = 3) paramedian thalamic infarct syndrome, and hemichorea hemiballismus (n = 2). Atypical lacunar syndromes were due to small vessel disease in 96% of patients. Atherothrombotic infarction occurred in one patient and cardioembolic infarct in another, both presenting pure dysarthria. Outcome was good (in hospital mortality 0%, symptom free at discharge 28.2%). After multivariate analysis, the variables of speech disturbances, nausea/vomiting, ischaemic heart disease, and sensory symptoms were found to be significantly associated with ALS. In conclusion, atypical lacunar syndrome is an infrequent stroke subtype (one of each 14 lacunar strokes). ALS occurred in 6.8% of lacunar strokes. Isolated dysarthria or dysarthria facial paresis were the most frequent presenting forms. The prognosis of this infrequent non-classic lacunar syndrome is good.

  15. Pathology and sensitivity of current clinical criteria in corticobasal syndrome.

    PubMed

    Ouchi, Haruka; Toyoshima, Yasuko; Tada, Mari; Oyake, Mutsuo; Aida, Izumi; Tomita, Itsuro; Satoh, Akira; Tsujihata, Mitsuhiro; Takahashi, Hitoshi; Nishizawa, Masatoyo; Shimohata, Takayoshi

    2014-02-01

    The aim of this study was to investigate corticobasal syndrome with respect to underlying pathologies, the ability of current clinical criteria to detect early stages of disease, and symptoms and signs predicting background pathologies. We retrospectively analyzed the clinicopathological findings from patients with corticobasal syndrome. We also analyzed whether those findings fulfilled the diagnostic criteria for corticobasal degeneration (CBD). Finally, we investigated characteristic clinical features that are specific to each background pathology. Of 10 consecutive autopsied patients who had corticobasal syndrome (mean age ± standard deviation, 67.9 ± 9.3 years; male:female ratio, 6:4), three had corticobasal degeneration pathology, three had progressive supranuclear palsy, three had Alzheimer's disease, and one had atypical four-repeat tauopathy. Nine patients fulfilled Mayo criteria, and all 10 patients fulfilled modified Cambridge criteria at the later stage, but only two patients fulfilled either clinical criteria within 2 years of disease onset. Five patients fulfilled the clinical criteria for possible CBD (p-CBD), and one patient fulfilled the clinical research criteria for probable sporadic CBD (cr-CBD) at the later stage. Only two patients fulfilled the criteria for either p-CBD or cr-CBD within 2 years of disease onset. Although we could not find any predictive characteristic clinical features that were specific to CBD pathology, only patients with progressive supranuclear palsy developed apraxia of eyelid opening and cerebellar ataxia. Myoclonus and memory impairment, especially if they appear at an early stage of the disease, may predict Alzheimer's disease pathology. Sensitivity of the available clinical criteria for corticobasal syndrome was poor within 2 years of disease onset.

  16. 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

  17. Clinical manifestations and clinical syndromes of Filipino patients with systemic lupus erythematosus.

    PubMed

    Villamin, Charles A C; Navarra, Sandra V

    2008-01-01

    The aim of this study was to describe the presenting clinical manifestations and syndromes of Filipino patients on diagnosis of systemic lupus erythematosus (SLE). We performed a retrospective review of medical records of Filipino SLE patients included in the lupus database of the University of Santo Tomas (UST) in Manila, Philippines. All patients fulfilled the American College of Rheumatology criteria for SLE. The following data were recorded: (1) demographic profile, (2) clinical manifestations on SLE diagnosis, and (3) clinical syndromes prior to and during fulfillment of diagnostic criteria for SLE and disease interval from diagnosis of a clinical syndrome to SLE diagnosis. Clinical data of 1,070 patients entered into the UST lupus database as of October 2005 were analyzed. The average age at SLE diagnosis was 28.5 +/- 11.5 (range 5-71) years, with 1,025 female and 45 male subjects. The most common presenting manifestation was arthritis (68%), followed by malar rash (49%), renal involvement (47%), photosensitivity (33%), and oral ulcers (33%). The following clinical syndromes were recorded prior to or during SLE diagnosis: nephrotic syndrome (30%), undifferentiated connective tissue disease (UCTD) (22%), autoimmune hemolytic anemia (AIHA) (6%), and idiopathic thrombocytopenic purpura (ITP) (6%). Among these, AIHA preceded the diagnosis of SLE at the longest interval (20.3 +/- 30.6, range 1-194 months). In this large database of Filipino patients with SLE, the most common presenting manifestation was arthritis, with renal involvement occurring in almost 50%. Among the clinical syndromes, nephrotic syndrome was the most common, whereas AIHA recorded the longest interval preceding SLE diagnosis, at an average of 20.3 months. Our findings are similar to data from other countries and emphasize the broad range of manifestations of SLE. The findings also reinforce the need to establish and maintain SLE databases to enhance awareness, early diagnosis, and more

  18. Serrated polyposis syndrome: molecular, pathological and clinical aspects.

    PubMed

    Guarinos, Carla; Sánchez-Fortún, Cristina; Rodríguez-Soler, María; Alenda, Cristina; Payá, Artemio; Jover, Rodrigo

    2012-05-28

    Hyperplastic polyps have traditionally been considered not to have malignant potential. New pathological classification of serrated polyps and recent discoveries about the serrated pathway of carcinogenesis have revolutionized the concepts and revitalized the research in this area. Until recently, it has been thought that most colorectal cancers arise from conventional adenomas via the traditional tumor suppressor pathway initiated by a mutation of the APC gene, but it has been found that this pathway accounts for only approximately 70%-80% of colorectal cancer (CRC) cases. The majority of the remaining colorectal cancer cases follow an alternative pathway leading to CpG island methylator phenotype carcinoma with BRAF mutation and with or without microsatellite instability. The mechanism of carcinomas arising from this alternative pathway seems to begin with an activating mutation of the BRAF oncogene. Serrated polyposis syndrome is a relatively rare condition characterized by multiple and/or large serrated polyps of the colon. Clinical characteristics, etiology and relationship of serrated polyposis syndrome to CRC have not been clarified yet. Patients with this syndrome show a high risk of CRC and both sporadic and hereditary cases have been described. Clinical criteria have been used for diagnosis and frequent colonoscopy surveillance should be performed in order to prevent colorectal cancer. In this review, we try to gather new insights into the molecular pathogenesis of serrated polyps in order to understand their possible clinical implications and to make an approach to the management of this syndrome.

  19. Ocular lateropulsion in Wallenberg's syndrome: a prospective clinical study.

    PubMed

    Crevits, L; vander Eecken, H

    1982-03-01

    In order to evaluate the occurrence and clinical value of ocular lateropulsion in Wallenberg's syndrome, a prospective study was carried out. Lateropulsion of the horizontal and vertical refixation saccades was a rather regular finding, especially in complete Wallenberg's syndrome. Lateral ocular deviation after elimination of fixation was present in nearly all cases. The tonic lateral vector was always directed to the involved side. It is concluded that ocular lateropulsion is an easily elicited sign with a lateralizing value in lateral bulbar infarction. Further systematic search of ocular lateropulsion in other posterior fossa disorders is needed to determine its topographical significance.

  20. 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

  1. [Hemolytic uremic syndrome. Clinical manifestations. Treatment].

    PubMed

    Exeni, Ramón A

    2006-01-01

    Clinical manifestation are described in children with epidemic HUS. The intestinal involvement in the prodromic period, is outlined and the most common disturbances such acute renal failure, thrombocytopenia, hemolytic anemia, leucocitosis hypertension, neurological, pancreatic and cardiac manifestations are described. We discuss the acid-base and electrolyte disturbances, metabolic acidosis, hyponatremia, hyperkalemia. The etiopathogenic treatment and the control of renal sequelae are also discussed.

  2. Coexistence of aplasia cutis and nevus psiloliparus--report of a novel case.

    PubMed

    Tekin, Burak; Yücelten, Ayşe Deniz; Akpınar, Ihsan Nuri; Ekinci, Gazanfer

    2014-01-01

    Nevus psiloliparus is a type of mesodermal nevus of the scalp classically seen with encephalocraniocutaneous lipomatosis. The close association between nevus psiloliparus and aplasia cutis congenita is called didymosis aplasticopsilolipara. Although typically associated with neurologic, ocular, and skeletal findings, didymosis aplasticopsilolipara can be seen without the context of encephalocraniocutaneous lipomatosis.

  3. Autism--genetics, electrophysiology and clinical syndromes.

    PubMed

    Pop-Jordanova, Nada; Plasevska-Karanfilska, Dijana

    2014-01-01

    Autism is a severe and the most heritable developmental disorder, whose pathogenesis is still largely unknown. The rising incidence of autism in the last decade has increased the scientific interest and research. More than a thousand papers concerned with information about the etiology of this "static disorder of the immature brain" can be found on Pub Med. The aim of this paper is to give a review of published genetic chromosomal anomalies associated with autistic spectrum disorders, as well as to discuss common syndromes associated with autistic traits. In addition, some of our own findings in genetics, as well as in quantitative electroencephalography and neurofeedback training in autistic children, will be presented and discussed. Generally, the subsequent analyses indicate that the causes of autism include fewer common single-gene mutations and chromosomal abnormalities, as well as multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci and positional and functional candidate genes which appear to represent possible risks of the autistic spectrum. Electrophysiological findings showed high delta/theta activity in frontal-central regions, while in 25% high beta activity was detected as a result of anxiety. Neurofeedback is a promising therapy for symptom mitigation.

  4. Syndrome of endemic arsenism and fluorosis. A clinical study.

    PubMed

    Huang, Y Z; Qian, X C; Wang, G Q; Gu, Y L; Wang, S Z; Cheng, Z H; Xiao, B Y; Gang, J M; Wu, J Y; Kan, M Y

    1992-07-01

    Sixty-five patients in Xinjiang with syndrome of endemic arsenism and fluorosis (SEAF) were investigated clinically from March 1982 to August 1989. SEAF is a kind of chronic syndrome resulting from the combined, harmful effects of two trace elements, arsenic and fluorine. Peripheral neuritis and cardiovascular changes were observed in this syndrome more often than in simple arsenism or simple fluorosis. The excessive quantities of these two trace elements in blood might have a synergic, harmful effect on the nervous and circulatory systems. No definite conclusion could be reached with regard to the morbidity of skin and visceral tumors in this series. The incidence of associated skin cancer was found to be 7.7% and an associated Grade II squamous cell carcinoma of the esophagus was encountered in one patient.

  5. [Clinical findings, pathogenesis and treatment of Bartter's syndrome (author's transl)].

    PubMed

    Ploier, R; Tulzer, W

    1981-01-01

    In three children Bartter's syndrome was diagnosed on the basis of the typical laboratory findings and the characteristic histological changes of the kidney. Apart from the description of three cases especially the latest pathogenic findings are represented because of their important therapeutic consequences. In one of the patients the therapeutic effect of the prostaglandin synthetase inhibitor Indomethazin was statistically proved in a balance study performed under inpatient conditions and so it was indirectly proved that the prostaglandines play an essential role in the pathogenesis of Bartter's syndrome. The patients have now received Indomethazin for a period of 11 months up to two and a half years with the result of an impressive improvement of the clinical symptoms and an unequivocal increase of the serum potassium. The fact that despite of normal renin and aldosterone levels there was no complete normalization of the serum potassium level indicates that in addition of prostaglandines probably a superior mechanism plays a part in the origin Bartter's syndrome.

  6. Atypical clinical manifestations of multiple endocrine neoplasia type 1 syndrome.

    PubMed

    Krysiak, Robert; Kajdaniuk, Dariusz; Marek, Bogdan; Okopień, Bogusław

    2009-03-01

    Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by a genetic predisposition to develop a variety of neuroendocrine tumors and hormone excess syndromes. The major components of MEN1 are hyperparathyroidism due to multiple parathyroid adenomas or hyperplasia, duodenopancreatic neuroendocrine tumors and pituitary adenomas, most often producing prolactin. Physicians' inadequate knowledge of this clinical entity and sometimes its atypical presentation result in a probable significant underdiagnosis of MEN1. This describes the case of a 65-year-old female in whom primary hyperparathyroidism, limited to only one parathyroid gland, was preceded by acromegaly that was diagnosed 23 years earlier. This case shows that MEN1 manifests itself even in older groups and hyperparathyroidism may not be the first symptom of this syndrome. Therefore, we believe that all subjects who, regardless of age, gender and initial manifestation present with whichever the major symptom should be followed up regularly for the early detection of MEN1. PMID:19514648

  7. Strawberries, blueberries, and cranberries in the metabolic syndrome: clinical perspectives.

    PubMed

    Basu, Arpita; Lyons, Timothy J

    2012-06-13

    Emerging science supports therapeutic roles of strawberries, blueberries, and cranberries in metabolic syndrome, a prediabetic state characterized by several cardiovascular risk factors. Interventional studies reported by our group and others have demonstrated the following effects: strawberries lowering total and LDL-cholesterol, but not triglycerides, and decreasing surrogate biomarkers of atherosclerosis (malondialdehyde and adhesion molecules); blueberries lowering systolic and diastolic blood pressure and lipid oxidation and improving insulin resistance; and low-calorie cranberry juice selectively decreasing biomarkers of lipid oxidation (oxidized LDL) and inflammation (adhesion molecules) in metabolic syndrome. Mechanistic studies further explain these observations as up-regulation of endothelial nitric oxide synthase activity, reduction in renal oxidative damage, and inhibition of the activity of carbohydrate digestive enzymes or angiotensin-converting enzyme by these berries. These findings need confirmation in future studies with a focus on the effects of strawberry, blueberry, or cranberry intervention in clinical biomarkers and molecular mechanisms underlying the metabolic syndrome.

  8. Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

    PubMed Central

    Carter, Melissa T; Pierre, Stephanie A St.; Zackai, Elaine H; Emanuel, Beverly S; Boycott, Kym M

    2009-01-01

    Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals. PMID:19606488

  9. Perceived vertical and lateropulsion: clinical syndromes, localization, and prognosis.

    PubMed

    Brandt, T; Dieterich, M

    2000-01-01

    We present a clinical classification of central vestibular syndromes according to the three major planes of action of the vestibulo-ocular reflex: yaw, roll, and pitch. The plane-specific syndromes are determined by ocular motor, postural, and perceptual signs. Yaw plane signs are horizontal nystagmus, past pointing, rotational and lateral body falls, deviation of perceived straight-ahead to the left or right. Roll plane signs are torsional nystagmus, skew deviation, ocular torsion, tilts of head, body, and perceived vertical in a clockwise or counterclockwise direction. Pitch plane signs are upbeat/downbeat nystagmus, forward/backward tilts and falls, deviations of the perceived horizon. The thus defined vestibular syndromes allow a precise topographic analysis of brainstem lesions according to their level and side. Special emphasis is placed on the vestibular roll plane syndromes of ocular tilt reaction, lateropulsion in Wallenberg's syndrome, thalamic and cortical astasia and their association with roll plane tilt of perceived vertical. Recovery is based on a functionally significant central compensation of a vestibular tone imbalance, the mechanism of which is largely unknown. Physical therapy may facilitate this central compensation, but this has not yet been proven in prospective studies.

  10. The clinical presentation of Ehlers-Danlos syndrome.

    PubMed

    Lawrence, Elizabeth J

    2005-12-01

    Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes. These mutations cause defects in collagen. Collagen, a connective tissue protein that acts like glue, gives strength to the body and provides support and elasticity for movement. Thus, the altered gene affects the mechanical properties of skin, joints, ligaments, and blood vessels. Ehlers-Danlos syndrome is transmitted through autosomal dominant, autosomal recessive, or x-linked patterns of inheritance. The life expectancy of an affected infant varies with the type of EDS. This article provides an overview of the 6 major classifications of EDS, their unique clinical presentations, a focused physical assessment guide, considerations for nursing care, and resources for parents. Ehlers-Danlos syndrome can be a potentially debilitating syndrome. It requires preventative and protective measures starting at birth to preserve joint function to improve infant outcomes. Caring for patients with EDS requires an understanding of the potential associated complications to help minimize the physical and emotional impact of the syndrome and improve the quality of life for affected individuals. PMID:16338669

  11. 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

  12. Iliac vein compression syndrome: Clinical, imaging and pathologic findings

    PubMed Central

    Brinegar, Katelyn N; Sheth, Rahul A; Khademhosseini, Ali; Bautista, Jemianne; Oklu, Rahmi

    2015-01-01

    May-Thurner syndrome (MTS) is the pathologic compression of the left common iliac vein by the right common iliac artery, resulting in left lower extremity pain, swelling, and deep venous thrombosis. Though this syndrome was first described in 1851, there are currently no standardized criteria to establish the diagnosis of MTS. Since MTS is treated by a wide array of specialties, including interventional radiology, vascular surgery, cardiology, and vascular medicine, the need for an established diagnostic criterion is imperative in order to reduce misdiagnosis and inappropriate treatment. Although MTS has historically been diagnosed by the presence of pathologic features, the use of dynamic imaging techniques has led to a more radiologic based diagnosis. Thus, imaging plays an integral part in screening patients for MTS, and the utility of a wide array of imaging modalities has been evaluated. Here, we summarize the historical aspects of the clinical features of this syndrome. We then provide a comprehensive assessment of the literature on the efficacy of imaging tools available to diagnose MTS. Lastly, we provide clinical pearls and recommendations to aid physicians in diagnosing the syndrome through the use of provocative measures. PMID:26644823

  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.

  14. Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

    PubMed

    Berg, Jonathan S; Potocki, Lorraine; Bacino, Carlos A

    2010-05-01

    Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available.

  15. Chronic pelvic pain syndrome: a clinical enigma.

    PubMed

    Stein, Avi; May, Tal; Dekel, Yoram

    2014-07-01

    Chronic nonbacterial prostatitis is an ill-defined, painful clinical condition that is characterized by various nonspecific symptoms, some of which are related to urination or the male reproductive organs. Urologists diagnose this particular condition when the symptoms are not associated with urinary bacterial growth before and after transrectal prostate massage. In this review, we describe the recommended and optional tests that can be performed in these cases. There is significant overlap between chronic nonbacterial prostatitis and other unexplained pain conditions, raising the question as to whether the prostate is the culprit. The sources and mediators of pain and the psychological aspects of this complex condition are discussed. Treatments consist of traditional antibiotics and α-blockers. Because the pain relief is often temporary, patients seek other solutions. Various therapeutics have been introduced to satisfy the expectations of patients and physicians. We discuss other pain medications, as well as intraprostatic drug injections and shockwave therapy. Importantly, however, not all of these suggestions have been widely accepted by urologists or pain clinics.

  16. Clinical features of hepatopulmonary syndrome in cirrhotic patients

    PubMed Central

    Alizadeh, Amir Houshang Mohammad; Fatemi, Seyed Reza; Mirzaee, Vahid; Khoshbaten, Manoochehr; Talebipour, Bahman; Sharifian, Afsaneh; Khoram, Ziba; Haj-sheikh-oleslami, Farhad; Gholamreza-shirazi, Masoomeh; Zali, Mohammad Reza

    2006-01-01

    AIM: To evaluate the frequency, clinical and paraclinical features of hepatopulmonary syndrome (HPS) and to determine their predictive values in diagnosis of this syndrome in patients in Iran. METHODS: Fifty four cirrhotic patients underwent contrast enhanced echocardiography to detect intrapulmonary and intracardiac shunts by two cardiologists. Arterial blood oxygen, O2 gradient (A-a) and orthodoxy were measured by arterial blood gas (ABG) test. The patients positive for diagnostic criteria of HPS were defined as clinical HPS cases and those manifesting the intrapulmonary arterial dilation but no other criteria (arterial blood hypoxemia) were defined as lHPS cases. HPS frequency, sensitivity, positive and negative predictive values of clinical and paraclinical features were studied. RESULTS: Ten (18.5%) and seven (13%) cases had clinical and subclinical HPS, respectively. The most common etiology was hepatitis B. Dyspnea (100%) and cyanosis (90%) were the most prevalent clinical features. Dyspnea and clubbing were the most sensitive and specific clinical features respectively. No significant relationship was found between HPS and splenomegaly, ascites, edema, jaundice, oliguria, and collateral veins. HPS was more prevalent in hepatitis B. PaO2 < 70 and arterial-alveolar gradient had the highest sensitivity in HPS patients. Orthodoxy specificity was 100%. CONCLUSION: Clubbing with positive predictive value (PPV) of 75% and dyspnea with negative predictive value (NPV) of 75% are the best clinical factors in diagnosis of HPS syndrome. PaO2 < 70 and P (A-a) O2 > 30 and their sum, are the most valuable negative and positive predictive values in HPS patients. PMID:16610006

  17. Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.

    PubMed

    Miyauchi-Hashimoto, H; Akaeda, T; Maihara, T; Ikenaga, M; Horio, T

    1998-10-01

    Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity. Cells from patients with CS show UV sensitivity, reduced recovery of RNA synthesis, but normal UV-induced unscheduled DNA synthesis. On the other hand, the patients with UV-sensitive syndrome have only cutaneous photosensitivity and skin freckles, whereas those cells respond to UV radiation in a similar fashion to the CS cells. We describe a patient with CS who showed only photosensitivity without typical clinical manifestations of CS, but his cells showed UV sensitivity, reduced recovery of RNA synthesis, and normal unscheduled DNA synthesis after UV radiation similar to CS cells. Furthermore, the patient was assigned to complementation group B of CS on the basis of the results of complementation analysis. The present report suggests that CS has a wider spectrum than that considered previously. PMID:9777763

  18. 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

  19. Association of Parental Origin with Clinical Profile in Klinefelter Syndrome

    PubMed Central

    Rajangam, Sayayee; C, Lalitha

    2015-01-01

    Introduction: Several genomic imprinting mechanisms have been postulated to report the parent-of-origin in Klinefelter syndrome. It was stated in the literature, parental origin has an effect on behavioral phenotype of Klinefelter individuals, but the association of the same on clinical profile was less reported. The detailed clinical phenotype when studied with the known origin of extra X may possibly explain the imprinting effect that may be helpful to derive diagnostic criteria in the syndrome. In the present study, we investigated the parental-of-origin of extra X chromosome in Klinefelter syndrome probands with an aim to report the association between the phenotype with that of its karyotype and the parental origin of supernumerary X. Materials and Methods: Seventy two probands that were referred to division of Human Genetics, St.John’s Medical College, Bangalore with variable complaints and phenotypic features were diagnosed with informed consent as Klinefelter syndrome with a confirmed karyotype. The Karyotype was prepared by peripheral lymphocyte culture and GTG banding method. The parental origin was studied in 9 families of Klinefelter probands with standard protocol for GENE SCAN using X-chromosome specific Short Tandem Repeat markers. The outcome was analyzed to determine the parental origin by GENE MAPPER. Statistical analysis: Statistical analysis was conducted to ascertain the significance of parental origin of supernumerary X with the phenotypic profile with confirmed karyotype. Results: Seven of nine probands had 47, XXY karyotype and 2 were mosaic with 47,XXY/46,XY karyotype. Five probands had their supernumerary X from maternal side and four were paternally derived. Sixteen features as framed proforma were tabulated against the originated X in Klinefelter probands. 55.56% of Klinefelter stigmata were seen in prob and who had maternally derived X and the rest were with paternal X. Conclusion: The findings of the present study points on parent

  20. Thrombocytopenia-absent radius syndrome: a clinical genetic study

    PubMed Central

    Greenhalgh, K; Howell, R; Bottani, A; Ancliff, P; Brunner, H; Verschuuren-Bemel..., C; Vernon, E; Brown, K; Newbury-Ecob, R

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified. PMID:12471199

  1. 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

  2. [Algodystrophic syndrome in hemiplegia. Clinical and therapeutic study].

    PubMed

    Perrigot, M; Bergego, C; Hocini, A; Pierrot-Deseilligny, E

    1982-01-01

    The work here exposed is divided in two studies: clinical and therapeutical. 1--Clinical. The occurrence of shoulder hand syndrome has been studied in 130 patients with hemiplegia. Although the preventive treatment was correct in all cases, 90 of them developed neurodystrophy. It is shown that the appearance and the intensity of this syndrome can be predicted with some certainly as soon as three weeks after the onset of hemiplegia, since there is a statistically significant correlation with the aetiology and the existence of some associated factors. 2--Therapeutical. The efficacy of eight treatments (calcitonin, blocking agents, intravenous clomipramine, blocking agents, periarterial injections of local anaesthetics, local or general corticotherapy, physiotherapy, kinesitherapy), randomly given to the patients, was compared (90 patients and 130 treatments). Local corticotherapy was the most efficient treatment. Physiotherapy was less efficient but always well tolerated. All the other treatments were much less active. Kinesitherapy was however always necessary to prevent joint ankylosis. No correlation was found between the intensity of the shoulder hand syndrome and the efficacy of treatments.

  3. [Cutaneous radiation syndrome: clinical features, diagnosis and therapy].

    PubMed

    Gottlöber, P; Krähn, G; Peter, R U

    2000-08-01

    Accidental exposure to ionizing radiation may occur during such catastrophic events as the Chernobyl accident in 1986 or over days to weeks as in Goiania in 1987 and in the military camp during the training of soldiers in Lilo/Georgia in 1997, as well as in medical institutions. The cutaneous symptoms after radiation exposure are based on a combination of inflammatory processes and alteration of cellular proliferation as a result of a specific pattern of transcriptionally activated proinflammatory cytokines and growth factors. They follow a time course consisting of prodromal erythema, latency period, acute stage, chronic stage and late stage. The entire complex is referred to as cutaneous radiation syndrome. The time course depends on several factors such as the radiation dose, radiation quality, individual radiation sensitivity, the extent of contamination and absorption and amount of skin exposed. For the diagnosis of the cutaneous radiation syndrome the following procedures are used: 7.5 MHz to 20 MHz-B-scan sonography, thermography, capillary microscopy, profilometry, nuclear magnetic resonance imaging, bone scintigraphy and histology. Based on the results of experimental and clinical research, today treatment may include topical or systemic corticosteroids, gamma-interferon, pentoxifylline, vitamin E and superoxide dismutase. The treatment depends on the stage of the cutaneous radiation syndrome. Due to the complexity of the clinical manifestations of radiation disease, most patients require interdisciplinary treatment in specialized centres. Dermatologists are essential partners in the life-long follow-up and therapy of such patients.

  4. Malignant melanoma arising within nevus spilus.

    PubMed

    Karam, Susan L; Jackson, Scott M

    2012-01-01

    A 68-year-old Caucasian man presented with a suspicious lesion near the left axilla during a full skin examination that was performed for a presentation for dermatitis. The patient stated that he had the lesion for several decades but that it may have become more raised over the past few months. He did not think much of the changes, however, because it was to him, "just a birthmark." The patient had no personal or family history of melanoma. On examination, the patient had a 4.5-cm by 1.2-cm oval light tan patch studded with multiple hyperpigmented macules regularly distributed within the lesion. In addition, at the lateral aspect of the lesion, the patient had a 0.9-cm irregularly pigmented black papule that was suspicious for melanoma (Figure 1). A deep saucerization biopsy of the lesion was performed, and histopathological examination revealed malignant melanoma, with a Breslow depth of 1.13 mm (Figure 2 and Figure 3). It was recommended that the patient have a wide local excision of the biopsy site and the adjacent remaining portions of the nevus spilus. A sentinel lymph node biopsy and an oncologic evaluation were also performed. The sentinel lymph node biopsies, as well as a computed tomographic scan performed by oncology, showed no evidence of metastatic disease. Since the procedure, the patient has shown no signs of disease recurrence. PMID:22545326

  5. [Clinical picture and pathogenesis of the Refsum syndrome].

    PubMed

    Shevchenko, A M

    1977-01-01

    The author reports of 2 cases (sisters of 13 and 15 years old) with the Refsum syndrome. The disease had its onset at the age of 12 and 5 years with a progressive development and remissions. The clinical picture was characterized by a recurrent syndrome of polyradiculoneurites with a slight protein cellular dissociation in the CSF, an expressed sensitive ataxia with elements of cerebellar disorders, a drop in the acuity of sight, audition, intellectual level and a deformation of the talipes of the Friedreich type. In a single examination of fatty acids in the blood serum by the method of gas chromotography there were no data pointing to the existence of 3, 7, 11, 15-tetra metylhexadecone acids. On the basis of an immunological study the author discusses the role of autoimmune reactions in the pathogenesis of the diseases. A differential diagnosis was conducted between acanthocytosis and porphyria with recommendations in regard to treatment.

  6. 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

  7. Severe acute respiratory syndrome (SARS): epidemiology and clinical features

    PubMed Central

    Hui, D; Chan, M; Wu, A; Ng, P

    2004-01-01

    Severe acute respiratory syndrome (SARS) is a newly emerged infectious disease with a significant morbidity and mortality. The major clinical features include persistent fever, chills/rigor, myalgia, malaise, dry cough, headache, and dyspnoea. Older subjects may present without the typical febrile response. Common laboratory features include lymphopenia, thrombocytopenia, raised alanine transaminases, lactate dehydrogenase, and creatine kinase. The constellation of compatible clinical and laboratory findings, together with certain characteristic radiological features and lack of clinical response to broad spectrum antibiotics, should arouse suspicion of SARS. Measurement of serum RNA by real time reverse transcriptase-polymerase chain reaction technique has a detection rate of 75%–80% in the first week of the illness. PMID:15254300

  8. 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.

  9. 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

  10. A signet-ring cell melanoma arising from a medium-sized congenital melanocytic nevus in an adult: A case report and literature review.

    PubMed

    Tajima, Shogo; Koda, Kenji

    2015-07-01

    Patients with congenital nevus, especially giant congenital melanocytic nevus (CMN) measuring >20 cm, are known to be at elevated risk of developing melanomas, especially during the first and second decades of life. Melanomas rarely develop in patients with small and medium-sized CMNs, but if they do, they occur during the fourth and fifth decades of life. We present a case of a rapidly enlarging signet-ring cell melanoma (over 3 months) that arose from a medium-sized CMN in a 57-year-old Japanese man. Only 11 other cases of signet-ring cell melanomas at the primary site have been reported. On the basis of morphology alone, it is difficult to diagnose a nodule appearing in a CMN as a signet-ring cell melanoma, because even a benign melanocytic nevus can appear as signet-ring cell morphology. Moreover, a rapidly growing proliferative nodule (PN) more often develops in a CMN than melanoma; PNs may at times exhibit enough atypia to be comparable to melanomas. In our case, loss of p16 expression in the melanoma distinguished it from the nevus cells and was helpful in making the correct diagnosis. Clinical information, such as the patient's age, was also useful in establishing the diagnosis.

  11. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    PubMed

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome.

  12. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    PubMed

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome. PMID:27405422

  13. Thoracic outlet syndrome: a controversial clinical condition. Part 1: anatomy, and clinical examination/diagnosis

    PubMed Central

    Hooper, Troy L; Denton, Jeff; McGalliard, Michael K; Brismée, Jean-Michel; Sizer, Phillip S

    2010-01-01

    Thoracic outlet syndrome (TOS) is a frequently overlooked peripheral nerve compression or tension event that creates difficulties for the clinician regarding diagnosis and management. Investigators have categorized this condition as vascular versus neurogenic, where vascular TOS can be subcategorized as either arterial or venous and neurogenic TOS can subcategorized as either true or disputed. The thoracic outlet anatomical container presents with several key regional components, each capable of compromising the neurovascular structures coursing within. Bony and soft tissue abnormalities, along with mechanical dysfunctions, may contribute to neurovascular compromise. Diagnosing TOS can be challenging because the symptoms vary greatly amongst patients with the disorder, thus lending to other conditions including a double crush syndrome. A careful history and thorough clinical examination are the most important components in establishing the diagnosis of TOS. Specific clinical tests, whose accuracy has been documented, can be used to support a clinical diagnosis, especially when a cluster of positive tests are witnessed. PMID:21655389

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. [Constitutional syndrome: clinical entity or a mixed bag].

    PubMed

    Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

    2013-01-01

    Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

  20. Clinical and genetic characteristics for the Urofacial Syndrome (UFS)

    PubMed Central

    Tu, Yaqin; Yang, Ping; Yang, Jia; Xu, Yuchen; Xiong, Fei; Yu, Qilin; Gu, Weikuan; Pond, Dinel; Mendelsohn, Nancy; Lachmeijer, Guus AMA; Zhang, Shu; Wang, Cong-Yi

    2014-01-01

    The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and hydronephrosis without any underlying neurological lesion and previous urinary obstruction. Some patients are also noted with nocturnal lagophthalmos. Until 2010, HPSE2, the gene encodes Heparanse 2 on chromosome 10, was thought to be the only culprit gene for this syndrome. However, another criminal gene, LRIG2, which encodes leucine-rich repeats and immunoglobulin-like domains 2, was also come into the light in 2012. Studies for dissecting the biological functions of HPSE2 and LRIG2 in urinary abnormalities are ongoing. In this minireview, we will update the discovery of novel clinical manifestations relevant to this syndrome and discuss with focus for the impact of HPSE2 on voiding dysfunction. PMID:24966895

  1. Congenital melanocytic nevus studded with strawberry haemangioma on the scalp.

    PubMed

    Mahajan, B B; Pall, A; Gupta, R R

    2003-01-01

    A six-month-old male infant presented with congenital melanocytic nevus (CMN) studded with strawberry haemangioma on the right side of scalp since birth. Both lesions were gradually increasing up to the present size. The case is being reported for its rare occurrence. PMID:17642825

  2. 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.

  3. 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

  4. 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

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

    PubMed

    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.

  6. [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

  7. Refeeding syndrome in children with different clinical aetiology.

    PubMed

    Lenicek Krleza, J; Misak, Z; Jadresin, O; Skaric, I

    2013-08-01

    Refeeding syndrome (RFS) is a well-described state of the series of metabolic and biochemical changes that can occur during the feeding of malnourished persons. The shifts in fluids and electrolytes can lead to complications during artificial feeding, which if not recognised and untreated can lead to death. Although the physiology and pathophysiology of RFS is well known, the circumstances under which the RFS appears, clinical manifestations and management of these patients are less clear. There are few published studies describing the occurrence of RFS in children. We describe two cases of RFS in children. The first case is a boy with unrecognised coeliac disease and second case is a girl with cerebral palsy. In both cases, the RFS has developed without clinical symptoms and it was shown only through laboratory findings. Electrolyte disturbances have been successfully corrected and treatment of the underlying disease continued.

  8. [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.

  9. 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.

  10. 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.

  11. 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

  12. Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

    PubMed Central

    Farrer, Lindsay A.; Arnos, Kathleen S.; Asher, James H.; Baldwin, Clinton T.; Diehl, Scott R.; Friedman, Thomas B.; Greenberg, Jacquie; Grundfast, Kenneth M.; Hoth, Christopher; Lalwani, Anil K.; Landa, Barbara; Leverton, Kate; Milunsky, Aubrey; Morell, Robert; Nance, Walter E.; Newton, Valerie; Ramesar, Rajkumar; Rao, Valluri S.; Reynolds, Jennifer E.; Agustin, Theresa B. San; Wilcox, Edward R.; Winship, Ingrid; Read, Andrew P.

    1994-01-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between −2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. ImagesFigure 1 PMID:7942851

  13. Clinical and Genetic Aspects of Primary Ciliary Dyskinesia / Kartagener Syndrome

    PubMed Central

    Leigh, Margaret W.; Pittman, Jessica E.; Carson, Johnny L.; Ferkol, Thomas W.; Dell, Sharon D.; Davis, Stephanie D.; Knowles, Michael R.; Zariwala, Maimoona A.

    2013-01-01

    Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (DNAH5) or intermediate (DNAI1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for PCD is available for the most common mutations. The respiratory manifestations of PCD (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis and chronic otitis media) reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of PCD patients have laterality defects (including situs inversus totalis and, less commonly, heterotaxy and congenital heart disease), reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most PCD patients have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with PCD. PMID:19606528

  14. 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.

  15. 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

  16. Clinical utility of lenalidomide in the treatment of myelodysplastic syndromes

    PubMed Central

    Abou Zahr, Abdallah; Saad Aldin, Ehab; Komrokji, Rami S; Zeidan, Amer M

    2015-01-01

    Myelodysplastic syndromes (MDS) represent a heterogeneous group of acquired clonal hematopoietic disorders characterized by peripheral blood cytopenias, paradoxical BM hypercellularity, ineffective hematopoiesis, and increased risk of leukemic transformation. Risk stratification, using different prognostic scores and markers, is at the core of MDS management. Deletion 5q [del(5q)] MDS is a distinct class of MDS characterized by the haploinsufficiency of specific genes, microRNAs, and proteins, which has been linked to increased sensitivity to the drug lenalidomide. Phase II and III clinical trials have demonstrated the efficacy of lenalidomide in improving clinical outcomes of patients with del(5q) MDS, including reduction in red blood cell transfusion requirements and improvements in quality of life. Lenalidomide has also demonstrated some activity in non-del(5q) lower-risk MDS as well as higher-risk MDS, especially in combination with other agents. In this paper, we review the pathogenesis of del(5q) MDS, the proposed mechanisms of action of lenalidomide, the major clinical trials that documented the activity of lenalidomide in different MDS populations, potential predictors of benefit from the drug and suggested mechanisms of resistance, and the use of combination strategies to expand the clinical utility of lenalidomide in MDS. PMID:25565910

  17. [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

  18. [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

  19. Rectal blue nevus: Case report of a rare entity and literature review.

    PubMed

    Makker, Jasbir; Sakam, Sailaja; Arety, Prasanthi; Niazi, Masooma; Balar, Bhavna

    2015-08-01

    Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management.

  20. Spectral-Domain Optical Coherence Tomography of Polypoidal Choroidal Vasculopathy Associated With Benign Choroidal Nevus.

    PubMed

    De Salvo, Gabriella; Vaz-Pereira, Sara; Sehmi, Kulwant S; Andrews, Richard M; Sagoo, Mandeep S

    2015-01-01

    Two cases of polypoidal choroidal vasculopathy (PCV) complicating benign choroidal nevus and their tomographic features at spectral-domain optical coherence tomography (SD-OCT) are reported. Two eyes with choroidal nevus and associated subretinal fluid underwent complete ophthalmological examination, SD-OCT, fundus fluorescein angiography, and indocyanine green angiography (ICGA). SD-OCT and ICGA confirmed the diagnosis of PCV in both cases. Ophthalmologists should be aware of this rare combination between choroidal nevus and PCV. If a choroidal nevus presents with subretinal fluid, this does not always herald malignant transformation, and PCV should be ruled out so that the correct treatment can be planned.

  1. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

    PubMed

    Tambasco, Nicola; Belcastro, Vincenzo; Prontera, Paolo; Nigro, Pasquale; Donti, Emilio; Rossi, Aroldo; Calabresi, Paolo

    2014-07-01

    Shapiro Syndrome (SS) is a rare condition of spontaneous periodic hypothermia, corpus callosum agenesis (ACC) and hyperhidrosis which can occur at any age. The variant form refers to the phenotypic SS without ACC. We reported the case of SS variant on a 4-year-old boy who presented from his first year frequent episodes of hypothermia lasting 2-3 h with core rectal temperatures <35 °C. In order to understand the characteristics of this rare syndrome we searched all the cases present in literature. Fifty-two cases of SS were found in literature. Among all clinical signs, paroxysmal hypothermia seems to be the hallmark of both typical and variant SS. ACC is reported only in 40% of cases of SS. Hyperhidrosis, another hallmark of SS, was present in only 42.3% of the cases and mainly in adult onset. The presence of SS in siblings of different genders suggests an autosomal recessive inheritance model, however a gonadic mosaicism responsible for an autosomal de novo mutation cannot be ruled out. From our review of well documented cases of SS, we conclude that only the episodic and spontaneous paroxysmal hypothermia should be considered the defining hallmark of typical and variant SS. This can be important to define the clinical manifestation of SS improving the early diagnosis. PMID:24594427

  2. 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

  3. Primitive reflex evaluation in the clinical assessment of extrapyramidal syndromes.

    PubMed

    Borroni, B; Broli, M; Costanzi, C; Gipponi, S; Gilberti, N; Agosti, C; Padovani, A

    2006-09-01

    The aim of the present study was to evaluate the role of primitive reflexes (PRs) as additional alert sign in routine clinical practice in patients with extrapyramidal syndrome. We considered glabellar, snout, palmomental and grasp reflexes in patients with mild stage of Lewy body dementia (LBD), corticobasal degeneration, progressive supranuclear palsy or Parkinson disease (PD). We also enrolled mild Alzheimer disease (AD) patients, and healthy subjects, as controls. LBD patients showed the highest prevalence of PRs compared with the other groups. The odds ratio of the risk of LBD in PRs > or = 2 was 27.9 (95% CI 2.9-269.0) compared with control group, 14.6 (95% CI 2.7-79.6) compared with mild AD, and 19.7 (95% CI 3.7-104.3) compared with PD. These data suggest that the occurrence of combination of PRs might be an useful additional warning sign of possible diffuse Lewy body pathology more than other causes of extrapyramidal syndrome.

  4. 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.

  5. Clinical manifestations and oral findings in Fraser syndrome.

    PubMed

    Diniz, Michele Baffi; Lima, Luciana Monti; Sacono, Nancy Tomoko; de Paula, Andréia Bolzan; dos Santos-Pinto, Lourdes

    2007-01-01

    This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.

  6. [Clinical practice guideline 'Complex regional pain syndrome type I'].

    PubMed

    Perez, R S G M; Zollinger, P E; Dijkstra, P U; Thomassen-Hilgersom, I L; Zuurmond, W W A; Rosenbrand, C J G M; Geertzen, J H B

    2007-07-28

    The development and treatment ofthe complex regional pain syndrome type I (CRPS-I) are a subject of much discussion. Using the method for the development ofevidence-based guidelines, a multidisciplinary guideline for the diagnosis and treatment of this syndrome has been drawn up. The diagnosis of CRPS-I is based on the clinical observation of signs and symptoms. For pain treatment, the WHO analgesic ladder is advised up to step z. In case of pain ofa neuropathic nature, anticonvulsants and tricyclic antidepressants may be considered. For the treatment ofinflammatory symptoms, free-radical scavengers (dimethylsulphoxide or acetylcysteine) are advised. In order to enhance peripheral blood flow, vasodilatory medication may be considered. Percutaneous sympathetic blockades may be used for a cold extremity ifvasodilatory medication produces insufficient effect. To decrease functional limitations, standardised physiotherapy and occupational therapy are advised. To prevent the occurrence of CRPS-I after wrist fractures, the use of vitamin C is recommended. Adequate perioperative analgesia, limitation of operation time and limited use of bloodlessness are advised for the secondary prevention of CRPS-I. Use of regional anaesthetic techniques can also be considered in this connection.

  7. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    PubMed Central

    Moka, Rajasekhar; Sreelakshmi, Kodandapani; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapettu

    2013-01-01

    AIM: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities. RESULTS: A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. CONCLUSION: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea. PMID:24082654

  8. 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

  9. 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.

  10. 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

  11. Irritable bowel syndrome: diagnostic approaches in clinical practice

    PubMed Central

    Burbige, Eugene J

    2010-01-01

    Background: Irritable bowel syndrome (IBS), a functional gastrointestinal disorder long considered a diagnosis of exclusion, has chronic symptoms that vary over time and overlap with those of non-IBS disorders. Traditional symptom-based criteria effectively identify IBS patients but are not easily applied in clinical practice, leaving >40% of patients to experience symptoms up to 5 years before diagnosis. Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria. Methods: The peer-reviewed literature (PubMed) was searched for primary reports and reviews using the limiters of date (1999–2009) and English language and the search terms irritable bowel syndrome, diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week 2008–2009 and reference lists of identified articles were reviewed. Results: A disconnect is apparent between practice guidelines and clinical practice. The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria (eg, Rome). However, physicians report confidence in a symptom-based diagnosis without further testing only up to 42% of the time; many order laboratory tests and perform sigmoidoscopies or colonoscopies despite good evidence showing no utility for this work-up in uncomplicated cases. In the absence of diagnostic criteria easily usable in a busy practice, newer diagnostic methods, such as stool-form examination, fecal inflammatory markers, and serum biomarkers, have been proposed as adjunctive tools to aid in an IBS diagnosis by increasing physicians’ confidence and changing the diagnostic paradigm to one of inclusion rather than exclusion. Conclusion: New adjunctive testing for IBS can

  12. 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

  13. Evidence-based clinical practice guidelines for irritable bowel syndrome.

    PubMed

    Fukudo, Shin; Kaneko, Hiroshi; Akiho, Hirotada; Inamori, Masahiko; Endo, Yuka; Okumura, Toshikatsu; Kanazawa, Motoyori; Kamiya, Takeshi; Sato, Ken; Chiba, Toshimi; Furuta, Kenji; Yamato, Shigeru; Arakawa, Tetsuo; Fujiyama, Yoshihide; Azuma, Takeshi; Fujimoto, Kazuma; Mine, Tetsuya; Miura, Soichiro; Kinoshita, Yoshikazu; Sugano, Kentaro; Shimosegawa, Tooru

    2015-01-01

    New strategies for the care of irritable bowel syndrome (IBS) are developing and several novel treatments have been globally produced. New methods of care should be customized geographically because each country has a specific medical system, life style, eating habit, gut microbiota, genes and so on. Several clinical guidelines for IBS have been proposed and the Japanese Society of Gastroenterology (JSGE) subsequently developed evidence-based clinical practice guidelines for IBS. Sixty-two clinical questions (CQs) comprising 1 definition, 6 epidemiology, 6 pathophysiology, 10 diagnosis, 30 treatment, 4 prognosis, and 5 complications were proposed and statements were made to answer to CQs. A diagnosis algorithm and a three-step treatment was provided for patients with chronic abdominal pain or abdominal discomfort and/or abnormal bowel movement. If more than one alarm symptom/sign, risk factor and/or routine examination is positive, colonoscopy is indicated. If all of them, or the subsequent colonoscopy, are/is negative, Rome III or compatible criteria is applied. After IBS diagnosis, step 1 therapy consisting of diet therapy, behavioral modification and gut-targeted pharmacotherapy is indicated for four weeks. Non-responders to step 1 therapy proceed to the second step that includes psychopharmacological agents and simple psychotherapy for four weeks. In the third step, for patients non-responsive to step 2 therapy, a combination of gut-targeted pharmacotherapy, psychopharmacological treatments and/or specific psychotherapy is/are indicated. Clinical guidelines and consensus for IBS treatment in Japan are well suited for Japanese IBS patients; as such, they may provide useful insight for IBS treatment in other countries around the world. PMID:25500976

  14. 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.

  15. Congenital Panfollicular Nevus in a 6-Month-Old Girl.

    PubMed

    Duan, Linna; Antaya, Richard J; Ko, Christine J; Narayan, Deepak

    2016-01-01

    A 6-month-old girl presented with an irregular nodule on the right lateral neck. The lesion, which superficially resembled a lymphangioma or mastocytoma, had been present since birth but had recently been growing. The patient was referred for surgical resection. Microscopic findings were compatible with a recently described rare hamartoma termed "panfollicular nevus," which is a well-circumscribed lesion containing aberrantly differentiated, clustered hair follicles in high density. PMID:26822169

  16. Pigmented choroidal nevus in a child with oculocutaneous albinism.

    PubMed

    Sharma, Priya; Kaliki, Swathi; Peña, Maria Soledad; Shields, Carol L

    2013-04-01

    We report the case of an 8-year-old white girl with albinism and a flat pigmented choroidal lesion in the left eye measuring 0.5 mm in diameter. There was no subretinal fluid, lipofuscin, or drusen. The patient later displayed 10 lightly-pigmented cutaneous nevi on her upper chest, left arm, and right leg at 8 months' follow-up. The choroidal nevus showed minimal change over 2 years. PMID:23352722

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

    PubMed

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

    2015-01-01

    Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side-effect 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.

  18. 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

  19. [CONGENITAL MELANOCYTIC NEVUS OF THE SHOULDER WITH RAPID GROWTH PROGRESSION DURING PREGNANCY. SUCCESSFUL SURGICAL APPROACH].

    PubMed

    Trayanov, I; Trayanova, E; Chokoeva, A; Tchernev, G

    2015-01-01

    Congenital melanocytic nevi are common subject of scientific debates nowadays, because of their possibility for transformation in malignant melanoma, although relatively rare. The diagnosis is difficult, due to their non-specific clinical and histological presentation, while the therapeutic methods are varied, depending on their size and localization. Surgical excision, however, is the most secure among them, because a complete removal of the lesion could be achieved, which, firstly provides a prevention of a possible malignant transformation, as well as this approach provides material for histological examination. We present a case of a 23-year-old female patient with congenital melanocytic nevus, located on the upper back, which increased significantly its size during her pregnancy, successfully treated by single surgical excision, with excellent aesthetic results.

  20. Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris.

    PubMed

    Lu, Yan; Zhu, Wen-Yuan

    2007-11-01

    We report a 17-year-old girl who presented with linear and whorled melanosis following Blaschko lines mainly on her trunk. Ichthyosiform lesions and linear scaling erythemas were observed respectively on her lower limbs and the dorsa of her hands, left knee, ankle and foot. No abnormality was found in systemic examination and blood tests. A biopsy specimen of pigmentation of her back showed there was increased pigmentation within the basal keratinocytes, with focal incontinentia pigmenti. Notable lymphangiectasis could also be seen in the mid part of dermis, which had never previously been described. The biopsy of scaling erythemas of her hand showed dominant hyperkeratosis with focal parakeratosis, acanthosis and papillomatous hyperplasia in the epidermis. The diagnosis of linear and whorled nevoid hypermelanosis (LWNH) complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris was made in accordance with clinical and pathological manifestations. LWNH ought to be differentiated from incontinentia pigmenti and hypomelanosis of Ito.

  1. Irritable bowel syndrome and chronic pelvic pain: A singular or two different clinical syndrome?

    PubMed Central

    Matheis, Anna; Martens, Ute; Kruse, Johannes; Enck, Paul

    2007-01-01

    Irritable bowel syndrome (IBS) and chronic pelvic pain (CPP) are both somatoform disorders with a high prevalence within the population in general. The objective was to compare both entities, to find the differences and the similarities related to epidemiology and psychosocial aspects like stressful life events, physical and sexual abuse, illness behaviour and comorbidity. The technical literature was reviewed systematically from 1971 to 2006 and compared. According to literature, IBS and CPP seem to be one rather than two different entities with the same localisation of pain. Both syndromes also are similar concerning prevalence, the coexistence of mental and somatoform disorders, the common history of sexual and physical abuse in the past and their health care utilization. It could be shown that there were many similarities between IBS and CPP. Nevertheless both are traded as different clinical pictures as far. Therefore it seems to be reasonable and necessary to generate a common diagnosis algorithm and to bring gynaecologists and gastroenterologists into dialogue. PMID:17659691

  2. 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

    PubMed Central

    Willatt, Lionel ; Cox, James ; Barber, John ; Cabanas, Elisabet Dachs ; Collins, Amanda ; Donnai, Dian ; FitzPatrick, David R. ; Maher, Eddy ; Martin, Howard ; Parnau, Josep ; Pindar, Lesley ; Ramsay, Jacqueline ; Shaw-Smith, Charles ; Sistermans, Erik A. ; Tettenborn, Michael ; Trump, Dorothy ; de Vries, Bert B. A. ; Walker, Kate ; Raymond, F. Lucy 

    2005-01-01

    We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features—including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation—were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. PMID:15918153

  3. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

    PubMed

    Willatt, Lionel; Cox, James; Barber, John; Cabanas, Elisabet Dachs; Collins, Amanda; Donnai, Dian; FitzPatrick, David R; Maher, Eddy; Martin, Howard; Parnau, Josep; Pindar, Lesley; Ramsay, Jacqueline; Shaw-Smith, Charles; Sistermans, Erik A; Tettenborn, Michael; Trump, Dorothy; de Vries, Bert B A; Walker, Kate; Raymond, F Lucy

    2005-07-01

    We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation--were observed, but each feature was only found once, in a single patient. The microdeletion is approximately 1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome.

  4. Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

    PubMed

    Kannu, Peter; Savarirayan, Ravi; Ozoemena, Linda; White, Susan M; McGrath, John A

    2006-04-15

    We report on the clinical and molecular abnormalities in a 7-month-old girl and her mother with an ectodermal dysplasia disorder that most closely resembles Rapp-Hodgkin syndrome (RHS). At birth, the child had bilateral cleft palate, a narrow pinched nose, small chin, and hypoplastic nipples, and suffered from respiratory distress, feeding difficulties, and poor weight gain, although developmental progress was normal. Her mother had a cleft palate, sparse hair, high forehead, dental anomalies, a narrow nose, dysplastic nails, and reduced sweating. Sequencing of the p63 gene in genomic DNA from both individuals revealed a heterozygous frameshift mutation, 1721delC, in exon 14. This mutation has not been described previously and is the seventh report of a pathogenic p63 gene mutation in RHS. The frameshift results in changes to the tail of p63 with the addition of 90 missense amino acids downstream and a delayed termination codon that extends the protein by 21 amino acids. This mutation is predicted to disrupt the normal repressive function of the transactivation inhibitory domain leading to gain-of-function for at least two isoforms of the p63 transcription factor. The expanding p63 mutation database demonstrates that there is considerable overlap between the molecular pathology of RHS and Hay-Wells syndrome, with identical mutations in some cases, and that these two disorders may in fact be synonymous.

  5. Optical Coherence Tomography Angiography of Iris Nevus: A Case Report

    PubMed Central

    Allegrini, Davide; Montesano, Giovanni; Pece, Alfredo

    2016-01-01

    Iris nevus is common: 6% of patients with suspected iris melanoma have lesions other than melanoma, and 36% of them are nevi. Iris nevus turns into melanoma in approximately 8% of cases at a mean of 15 years. This case report provides the first description of an iris tumor examined with iris optical coherence tomography angiography (OCTA) compared to iris fluorescein angiography (IFA). A 60-year-old man with a diagnosis of iris nevus in the left eye was referred to our department for IFA and iris OCTA. The iris vasculature in IFA was visible only in the early phases, but not clearly. OCTA, however, gave visualization of the vascular network and very precisely defined the vessels of the whole lesion, except for the pupillary portion, which was masked by superficial pigment accumulations. IFA and iris OCTA can add information about the vascular architecture compared to slit-lamp biomicroscopy, ultrasound biomicroscopy, and anterior-segment OCT. However, IFA is time-consuming and invasive and can – very occasionally – cause serious adverse reactions. In contrast, OCTA defines the texture of the iris vasculature better. In conclusion, OCTA is a new method, easy to execute, needing no dye injection, and provides useful information on the vascular network of iris lesions. It could therefore be helpful in the diagnosis and follow-up of these lesions. PMID:27790134

  6. 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

  7. 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.

  8. 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

  9. The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

    PubMed Central

    Muftuoglu, Meltem; Oshima, Junko; von Kobbe, Cayetano; Cheng, Wen-Hsing; Leistritz, Dru F.; Bohr, Vilhelm A.

    2015-01-01

    Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA repair, replication and telomere maintenance. Individuals with WS generally develop normally until the third decade of life, when premature aging phenotypes and a series of age-related disorders begin to manifest. In Japan, where a founder effect has been described, the frequency of Werner heterozygotes appears to be as high as 1/180 in the general population. Due to the relatively non-specific nature of the symptoms and the lack of awareness of the condition, this disease may be under-diagnosed in other parts of the world. Genetic counseling of WS patients follows the path of other autosomal recessive disorders, with special attention needed for cancer surveillance in relatives. Molecular diagnosis of WS is made by nucleotide sequencing and, in some cases, protein analysis. It is also of potential interest to measure WRN activities in WS patients. More than 50 different disease-causing mutations in the WRN gene have been identified in WS patients from all over the world. All but one of these cases has mutations that result in the premature termination of the protein. Here we describe the clinical, molecular and biochemical characteristics of WS for use by medical professionals in a health care setting. Additional information is available through the International Registry of WS (http://www.wernersyndrome.org). PMID:18810497

  10. Acne isolated within a Becker nevus of a 14 year-old girl.

    PubMed

    Juhl, Mark; Pappo, Eden; Bain, Michelle

    2015-08-01

    Becker nevus (BN) is a common benign condition occurring most often in young men, much more often than in women. Acne isolated within a BN is a rare phenomenon hypothesized to occur, at least in part, due to increased androgen sensitivity within the nevus. We present a rare case of papular acne with in a BN of a 14 year-old girl.

  11. Prediction of clinical manifestations of transurethral resection syndrome by preoperative ultrasonographic estimation of prostate weight

    PubMed Central

    2014-01-01

    Background This study aimed to investigate the relationship between preoperative estimated prostate weight on ultrasonography and clinical manifestations of transurethral resection (TUR) syndrome. Methods The records of patients who underwent TUR of the prostate under regional anesthesia over a 6-year period were retrospectively reviewed. TUR syndrome is usually defined as a serum sodium level of < 125 mmol/l combined with clinical cardiovascular or neurological manifestations. This study focused on the clinical manifestations only, and recorded specific central nervous system and cardiovascular abnormalities according to the checklist proposed by Hahn. Patients with and without clinical manifestations of TUR syndrome were compared to determine the factors associated with TUR syndrome. Receiver operating characteristic curve analysis was used to determine the optimal cutoff value of estimated prostate weight for the prediction of clinical manifestations of TUR syndrome. Results This study included 167 patients, of which 42 developed clinical manifestations of TUR syndrome. There were significant differences in preoperative estimated prostate weight, operation time, resected prostate weight, intravenous fluid infusion volume, blood transfusion volume, and drainage of the suprapubic irrigation fluid between patients with and without clinical manifestations of TUR syndrome. The preoperative estimated prostate weight was correlated with the resected prostate weight (Spearman’s correlation coefficient, 0.749). Receiver operator characteristic curve analysis showed that the optimal cutoff value of estimated prostate weight for the prediction of clinical manifestations of TUR syndrome was 75 g (sensitivity, 0.70; specificity, 0.69; area under the curve, 0.73). Conclusions Preoperative estimation of prostate weight by ultrasonography can predict the development of clinical manifestations of TUR syndrome. Particular care should be taken when the estimated prostate

  12. 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

  13. Basal Cell Carcinoma and Syringocystadenoma Papilliferum Arising in Nevus Sebaceous on Face—A Rare Entity

    PubMed Central

    Gupta, Sunil Kumar; Gupta, Vivek

    2015-01-01

    Nevus sebaceus of Jadassohn is a congenital cutaneous hamartoma comprising of multiple skin structures. It has the potential to develop into variety of neoplasms of various epidermal adnexal origins. While multiple tumors may occasionally arise, it is unusual to develop two different types of tumor, benign and malignant, to arise simultaneously within a single sebaceus nevus. Here in, we report a case of a 27-year-old male with two neoplastic proliferations including a syringocystadenoma papilliferum a benign tumor and basal cell carcinoma a malignant tumor arising in a long-standing nevus sebaceus on the face. Neoplastic changes are common in nevus sebaceous present on scalp but our case is unique due to the presence of two different types of neoplasm in a nevus sebaceous which was present on face. PMID:26677302

  14. Insight into evolution of a giant congenital nevomelanocytic nevus over 14 years.

    PubMed

    Sathyanarayana, B D; Basavaraj, H B; Nischal, K C; Swaroop, M R; Lavanya, M S; Okram, Sarda

    2014-01-01

    Giant congenital nevomelanocytic nevus (GCNN) is a rare variant of congenital melanocytic nevus measuring >20 cm in size that often has a garment-like distribution. Regular follow up is recommended because of a risk of melanoma transformation of 4.6%. We report a 14-year-old boy with gradual regression of giant congenital melanocytic nevus over the left upper limb, chest, back and axilla, whom we have followed-up since birth. At birth, a hyperpigmented jet-black patch without hair was present over the left side of torso and upper limb including palms and nails. Follow up at the ages of 1, 5, 11 and 14 years showed progressive spontaneous regression of the nevus resulting in shiny atrophic skin, diffuse hypopigmentation, lentigo-like macules, nodules and arthrogryphosis of affected areas. Histopathology of the lesions on follow-up revealed absence of pigmented nevus cells in the regressing areas and thickened sclerotic collagen bundles.

  15. 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

  16. [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

  17. 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

    2015-09-01

    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

  18. Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging.

    PubMed

    Schipper, Hyman M

    2012-03-01

    Iron participates in a wide array of cellular functions and is essential for normal neural development and physiology. However, if inappropriately managed, the transition metal is capable of generating neurotoxic reactive oxygen species. A number of hereditary conditions perturb body iron homeostasis and some, collectively referred to as neurodegeneration with brain iron accumulation (NBIA), promote pathological deposition of the metal predominantly or exclusively within the central nervous system (CNS). In this article, we discuss seven NBIA disorders with emphasis on the clinical syndromes and neuroimaging. The latter primarily entails magnetic resonance scanning using iron-sensitive sequences. The conditions considered are Friedreich ataxia (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, and neuroferritinopathy. An approach to differential diagnosis and the status of iron chelation therapy for several of these entities are presented. This article is part of a Special Issue entitled: Imaging Brain Aging and Neurodegenerative disease.

  19. Discoveries in Down syndrome: moving basic science to clinical care.

    PubMed

    Kleschevnikov, A M; Belichenko, P V; Salehi, A; Wu, C

    2012-01-01

    This review describes recent discoveries in neurobiology of Down syndrome (DS) achieved with use of mouse genetic models and provides an overview of experimental approaches aimed at development of pharmacological restoration of cognitive function in people with this developmental disorder. Changes in structure and function of synaptic connections within the hippocampal formation of DS model mice, as well as alterations in innervations of the hippocampus by noradrenergic and cholinergic neuromodulatory systems, provided important clues for potential pharmacological treatments of cognitive disabilities in DS. Possible molecular and cellular mechanisms underlying this genetic disorder have been addressed. We discuss novel mechanisms engaging misprocessing of amyloid precursor protein (App) and other proteins, through their affect on axonal transport and endosomal dysfunction, to "Alzheimer-type" neurodegenerative processes that affect cognition later in life. In conclusion, a number of therapeutic strategies have been defined that may restore cognitive function in mouse models of DS. In the juvenile and young animals, these strategists focus on restoration of synaptic plasticity, rate of adult neurogenesis, and functions of the neuromodulatory subcortical systems. Later in life, the major focus is on recuperation of misprocessed App and related proteins. It is hoped that the identification of an increasing number of potential targets for pharmacotherapy of cognitive deficits in DS will add to the momentum for creating and completing clinical trials. PMID:22541294

  20. Toxic shock syndrome: clinical and laboratory findings in 30 patients.

    PubMed Central

    Chow, A. W.; Wong, C. K.; MacFarlane, A. M.; Bartlett, K. H.

    1984-01-01

    Thirty patients with toxic shock syndrome (TSS) that developed between May 1980 and March 1983 in Vancouver were studied prospectively. In the 15 cases related to menstruation the illness followed a uniform and predictable clinical course. In the 15 other cases (3 in males) the disease was not related to menstruation, and the sources of the Staphylococcus aureus infections were diverse; 67% were hospital-acquired. Profound but transient lymphocytopenia associated with marked leukocytosis was the most striking laboratory finding and one not previously emphasized in the literature. S. aureus was isolated from sites of soft-tissue infection, the vagina or the endocervix in all except one case. Two patients had bacteremia. Phage types 29 and 29 + predominated among the isolates tested. All the genital S. aureus isolates tested produced the TSS marker protein, while the bacteria from wounds, throat, nose and blood were sometimes positive. Two patients (7%) died from refractory shock and multiple organ failure. All patients with a febrile, exanthematous, multisystem illness, particularly if it is associated with menstruation or a staphylococcal infection, should be evaluated promptly and treated empirically for TSS. Images FIG. 1 FIG. 2 PMID:6692240

  1. Fatigue and fibromyalgia syndrome: clinical and neurophysiologic pattern.

    PubMed

    Casale, Roberto; Rainoldi, Alberto

    2011-04-01

    The concept of 'fatigue' is strictly related to parameters of the setting in which fatigue is measured. Therefore, it is mandatory to provide a definition of fatigue and the modalities of its use. This is of pivotal importance with regard to the fibromyalgia (FM) syndrome, where fatigue is the most invalidating symptom and where, paradoxically, no clear and widely accepted definition of fatigue is available in the literature as yet. In the clinical setting, fatigue can be measured by different methods of various complexity. The simplest technique to assess fatigue involves the use of a visual analogue scale (VAS); however, a number of scales with differing levels of complexity are available for use. It is, often, difficult to detach the term 'fatigue' from tiredness and task failure, which correspond to two completely distinguished forms of fatigue: one with central origin (tiredness) and another which is localised within the muscle (peripheral muscle fatigue). The former is related to changes in motor-unit-recruitment strategies, whereas the latter is attributed to changes in membrane properties. To extensively assess fatigue and, partially, to avoid confusion among the types of fatigue described above, a number of laboratory tests have been developed; among these, there are multichannel surface electromyography (EMG) recordings. Using this type of an approach, it is possible the estimation of motor unit location within the muscle, the decomposition of the surface EMG (sEMG) interference signal into constituent trains of motor unit action potentials (MUAPs) and the analysis of single unit properties. PMID:22094199

  2. Intracranial growing teratoma syndrome: clinical characteristics and treatment strategy.

    PubMed

    Kim, Chae-Yong; Choi, Jung-Won; Lee, Ji Yeon; Kim, Seung-Ki; Wang, Kyu-Chang; Park, Sung-Hye; Choe, Gheeyoung; Ahn, Hyo Seop; Kim, Il-Han; Cho, Byung-Kyu

    2011-01-01

    This study evaluated the clinical and radiological characteristics, as well as the treatment outcomes, for the rare phenomenon known as intracranial growing teratoma syndrome (iGTS). One hundred seventy patients diagnosed with intracranial germ cell tumours (GCT) between 1997 and 2008 were enrolled in this retrospective analysis. Thorough reviews of medical records, brain magnetic resonance images (MRI), pathological findings and tumour markers [alpha-fetoprotein (αFP) and beta-human chorionic gonadotropin (βHCG)] were performed to identify the incidence of iGTS cases and to clarify their clinical characteristics. Eleven out of the 170 intracranial GCT patients (6.5%) were identified as having iGTS. All instances of iGTS originated from non-germinomatous GCT (NGGCT), with incidence rate of 21% (11/52). Six iGTS cases developed from mixed GCTs, four from immature teratomas (ITs) and one from yolk sac tumour. All 11 iGTS patients showed honeycomb-shaped multi-cystic growth patterns on MRI, which is a typical characteristic of iGTS. Surgical excision was performed in all patients, and complete excision was possible in nine patients. Eight of them are alive with no evidence of recurrence; however, two patients who had residual masses died owing to progression of iGTS. Early recognition and suspicion of iGTS, during or after adjuvant therapy of NGGCT, is crucial to ensure that surgical intervention can be performed in a timely manner. Early radical excision may be the treatment of choice for better iGTS prognosis. PMID:20532955

  3. Sebaceous lesions and their associated syndromes: part II.

    PubMed

    Eisen, Daniel B; Michael, Daniel J

    2009-10-01

    Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear sebaceous nevus syndrome has been traditionally known as the triad of sebaceous nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome. PMID:19751880

  4. 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

  5. DOOR syndrome: clinical report, literature review and discussion of natural history.

    PubMed

    James, Aaron W; Miranda, Suzette G; Culver, Kathy; Hall, Bryan D; Golabi, Mahin

    2007-12-01

    DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature. The hallmarks of the syndrome, represented in the DOOR acronym, include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. The purpose of our communication is to report on an additional patient with DOOR syndrome, delineate common as well as less frequent manifestations of DOOR syndrome, bring attention to the under appreciated facial features in DOOR syndrome, document the natural history of this disorder, and propose a suggested workup of those suspected of DOOR syndrome. DOOR syndrome is associated with characteristic, coarse facial features with large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. The natural history is one of a deteriorative course, with progressive neurological manifestations including sensorineural deafness, seizures from infancy, optic atrophy, and a peripheral polyneuropathy. The majority of patients with DOOR syndrome have elevated levels of 2-oxoglutarate in the urine and plasma. In this report, we present a newborn with manifestations consistent with DOOR syndrome and a progressive clinical course. A comprehensive literature review reveals 32 patients with DOOR syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history.

  6. 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.

  7. 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…

  8. 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…

  9. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  10. Implant therapy for a patient with Down syndrome and oral habits: A clinical report.

    PubMed

    Saponaro, Paola C; Deguchi, Toru; Lee, Damian J

    2016-09-01

    This clinical report describes prosthodontic therapy with an implant-supported partial fixed dental prosthesis for a patient with Down syndrome and concomitant oral habits, including tongue thrusting and thumb sucking.

  11. Clinical Heterogeneity of Guillain-Barré Syndrome in the Emergency Department: Impact on Clinical Outcome

    PubMed Central

    Markakis, Ioannis

    2016-01-01

    Guillain-Barré syndrome (GBS) is mainly classified into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Although diagnosis of GBS requires progressive weakness and universal areflexia or hyporeflexia, cases of GBS with preserved or increased deep tendon reflexes (DTRs) have been increasingly recognized. We report three cases of GBS, presenting at a single unit in six months. Our first case presented with pure sensory symptoms. The second case had nonspecific generalized weakness, while the third presented with typical ascending weakness. One of our patients had preserved DTRs, while the other two had increased DTRs. Our two cases with hyperreflexia were found to have a preceding Campylobacter jejuni infection and anti-ganglioside antibodies, and their electrophysiological studies revealed AMAN. The other case had an AIDP. Only one case was offered a diagnosis and treatment from the first emergency department (ED) visit and had a better clinical outcome. Clinical diagnosis of GBS in the ED can be challenging. Delay in diagnosis of GBS in the ED is common due to cases with intact or increased DTRs, atypical pattern of weakness, or pure sensory symptoms. Emergency physicians should be aware of GBS clinical heterogeneity, because early diagnosis and treatment improve clinical outcome. PMID:27761272

  12. [Microphthalmos in Pierre Robin syndrome. Clinical and x-ray computed tomographic study].

    PubMed

    Girard, B; Topouzis, F; Saraux, H

    1989-12-01

    The Pierre Robin Syndrome is characterized by three defects (8,9): micrognathia, cleft palate and glossoptosis responsible for respiratory failure. The new definition of this syndrome associates retrognathia, cleft palate and respiratory distress. This respiratory distress is mixed: obstructive due to glossoptosis, and central, secondary to brainstem immaturity (1,2). The main ocular manifestations associated with the syndrome are congenital glaucoma, high congenital myopia and retinal detachment. Microphtalmia has already been reported, but is infrequent. We present a clinical case of a major microphthalmia in a Pierre Robin Syndrome, confirmed by CT scan exploration.

  13. 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

  14. 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. PMID:27617086

  15. 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.

  16. Paraneoplastic syndromes in patients with laryngeal neuroendocrine carcinomas: clinical manifestations and prognostic significance.

    PubMed

    Ferlito, Alfio; Rinaldo, Alessandra; Bishop, Justin A; Hunt, Jennifer L; Vander Poorten, Vincent; Williams, Michelle D; Triantafyllou, Asterios; Devaney, Kenneth O; Gnepp, Douglas R; Kusafuka, Kimihide; Halmos, Gyorgy B; Westra, William H; Takes, Robert P; Thompson, Lester D R

    2016-03-01

    Paraneoplastic syndromes are associated with a variety of malignant neoplasms and are systemic and non-metastatic manifestations that develop in a minority of cancer patients. This review examines all published cases of paraneoplastic syndromes associated with neuroendocrine carcinomas of the larynx. There are a total of ten patients reported with paraneoplastic syndromes associated with laryngeal neuroendocrine carcinomas in the literature. Of these, nine died and the tenth is alive with liver metastases. There were five cases of small-cell neuroendocrine carcinoma, four cases of moderately differentiated neuroendocrine carcinoma, and one case of well-differentiated neuroendocrine carcinoma associated with paraneoplastic syndromes. As these syndromes have significant clinical relevance, physicians should be aware of the possible presence of paraneoplastic syndromes in the diagnostic process of patients with neuroendocrine carcinoma of the larynx.

  17. Three clinical cases of the DiGeorge syndrome manifested with the biliary system disease.

    PubMed

    Tabutsadze, T; Pachkoria, Kh; Atuashvili, G

    2007-11-01

    DiGeorge syndrome is a rare congenital disease that affects the baby's immune system. Its symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features. Few cases of DiGeorge syndrome have been reported in adults. The article describes rare (three cases of DiGeorge syndrome) in adults (18, 32 and 34 years old patients) in Georgia (Caucasus). In clinical practice DiGeorge syndrome may proceed under the course of gastroenterologic, endocrine, nervous and surgical symptoms. 3 cases of DiGeorge syndrome are reported in the article. The authors describe DiGeroge syndrome as a multidisciplinary disorder; it is masqueraded by acute surgical diseases; with sharp immunodeficiency and endocrine, cardiologic and neurologic semiotics.

  18. 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.

  19. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. The post-polio syndrome as an evolved clinical entity. Definition and clinical description.

    PubMed

    Dalakas, M C

    1995-05-25

    Post-polio syndrome (PPS) refers to the new neuromuscular symptoms that occur at least 15 years after stability in patients with prior acute paralytic polio-myelitis. They include: (1) new muscle weakness and atrophy in the limbs, the bulbar or the respiratory muscles [post-poliomyelitis muscular atrophy (PPMA)] and (2) excessive muscle fatigue and diminished physical endurance. PPS is a clinical diagnosis that requires exclusion of all other medical, neurological, orthopedic or psychiatric diseases that could explain the cause of the new symptoms. Routine electromyography is useful to confirm chronic and ongoing denervation and exclude neuropathies. Muscle biopsy, single fiber electromyography (EMG), macro-EMG, serum antibody titers to polio virus, and spinal fluid studies are very useful research tools but they are rarely needed to establish the clinical diagnosis. PPS is a slowly progressive phenomenon with periods of stability that vary from 3 to 10 years. Current evidence indicates that PPS is the evolution of a subclinically ongoing motor neuron dysfunction that begins after the time of the acute polio. It is clinically manifested as PPS when the well-compensated reinnervating process crosses a critical threshold beyond which the remaining motor neurons cannot maintain the innervation to all the muscle fibers within their motor unit territory.

  5. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

    PubMed Central

    Yang, Hee Jung; Lee, You Kyung; Joo, Choun-Ki; Moon, Jung Il; Mok, Jee Won

    2015-01-01

    Purpose To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. Methods A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing. Results The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members. Conclusions This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome. PMID:26240509

  6. Primary orbital melanoma combined with giant divided nevus of the eyelid.

    PubMed

    Ke, Yifeng; Ren, Xinjun; Zhu, Liming; Hao, Rui; Song, Wenjin; Liu, Xun; He, Yanjin

    2014-01-01

    The authors report a rare case of primary orbital melanoma (POM) combined with giant divided nevus of the eyelid. An 8-year-old Chinese girl is referred for evaluation of 2-month duration of exophthalmos with decreased vision, epiphora, and pain on her right eye. His presentation, imaging, biopsy, histopathology, and management are presented. The possible cellular origin of the POM and the relationship of POM and divided nevus are discussed. We presume that divided nevus may be one of rarely preexisting lesions of POM.

  7. 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

  8. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

    PubMed

    Au, P Y Billie; Racher, Hilary E; Graham, John M; Kramer, Nancy; Lowry, R Brian; Parboosingh, Jillian S; Innes, A Micheil

    2014-03-01

    Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. Mutations in exon 1 of SKI have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen-Goldberg syndrome. SKI is a known regulator of TGFβ signaling. Therefore, like Marfan syndrome and Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen-Goldberg syndrome.

  9. 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.

  10. Zollinger-Ellison syndrome. Clinical presentation in 261 patients.

    PubMed

    Roy, P K; Venzon, D J; Shojamanesh, H; Abou-Saif, A; Peghini, P; Doppman, J L; Gibril, F; Jensen, R T

    2000-11-01

    We prospectively evaluated the initial presenting symptoms in 261 patients with Zollinger-Ellison syndrome (ZES) over a 25-year period. Twenty-two percent of the patients had multiple endocrine neoplasia-type 1 (MEN-1) with ZES. Mean age at onset was 41.1 +/- 0.7 years, with MEN-1 patients presenting at a younger age than those with sporadic ZES (p < 0.0001). Three percent of the patients had onset of the disease < age 20 years, and 7% > 60 years. A mean delay to diagnosis of 5.2 +/- 0.4 years occurred in all patients. A shorter duration of symptoms was noted in female patients and in patients with liver metastases. Abdominal pain and diarrhea were the most common symptoms, present in 75% and 73% of patients, respectively. Heartburn and weight loss, which were uncommonly reported in early series, were present in 44% and 17% of patients, respectively. Gastrointestinal bleeding was the initial presentation in a quarter of the patients. Patients rarely presented with only 1 symptom (11%); pain and diarrhea was the most frequent combination, occurring in 55% of patients. An important presenting sign that should suggest ZES is prominent gastric body folds, which were noted on endoscopy in 94% of patients; however, esophageal stricture and duodenal or pyloric scarring, reported in numerous case reports, were noted in only 4%-10%. Patients with MEN-1 presented less frequently with pain and bleeding and more frequently with nephrolithiasis. Comparing the clinical presentation before the introduction of histamine H2-receptor antagonists (pre-1980, n = 36), after the introduction of histamine H2-receptor antagonists (1981-1989, n = 118), and after the introduction of proton pump inhibitors (PPIs) (> 1990, n = 106) demonstrates no change in age of onset; delay in diagnosis; frequency of pain, diarrhea, weight loss; or frequency of complications of severe peptic disease (bleeding, perforations, esophageal strictures, pyloric scarring). Since the introduction of histamine H2

  11. 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.

  12. 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

  13. 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

  14. 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

  15. 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

  16. Down syndrome and moyamoya: clinical presentation and surgical management.

    PubMed

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  17. Electrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical Studies

    PubMed Central

    Tse, Gary; Liu, Tong; Li, Ka H. C.; Laxton, Victoria; Chan, Yin W. F.; Keung, Wendy; Li, Ronald A.; Yan, Bryan P.

    2016-01-01

    Brugada syndrome (BrS), is a primary electrical disorder predisposing affected individuals to sudden cardiac death via the development of ventricular tachycardia and fibrillation (VT/VF). Originally, BrS was linked to mutations in the SCN5A, which encodes for the cardiac Na+ channel. To date, variants in 19 genes have been implicated in this condition, with 11, 5, 3, and 1 genes affecting the Na+, K+, Ca2+, and funny currents, respectively. Diagnosis of BrS is based on ECG criteria of coved- or saddle-shaped ST segment elevation and/or T-wave inversion with or without drug challenge. Three hypotheses based on abnormal depolarization, abnormal repolarization, and current-load-mismatch have been put forward to explain the electrophysiological mechanisms responsible for BrS. Evidence from computational modeling, pre-clinical, and clinical studies illustrates that molecular abnormalities found in BrS lead to alterations in excitation wavelength (λ), which ultimately elevates arrhythmic risk. A major challenge for clinicians in managing this condition is the difficulty in predicting the subset of patients who will suffer from life-threatening VT/VF. Several repolarization risk markers have been used thus far, but these neglect the contributions of conduction abnormalities in the form of slowing and dispersion. Indices incorporating both repolarization and conduction and based on the concept of λ have recently been proposed. These may have better predictive values than the existing markers. PMID:27803673

  18. [Sexual addiction: chimera or clinical syndrom? A plea for a clinical conceptualization].

    PubMed

    Wölfle, Roland

    2010-01-01

    The phenomenon of sexual addiction as a clinical syndrom is discussed controversially. The article first deals with some mythological, historical and literary sources, which have been an inspiration for the nomenclature, e.g. nymphomania. Scientific research started in the 19th century, but also a classification in terms of a morally contaminated pathology, which led to barbaric forms of "therapies" and procedures, especially for women. The ICD-10 and the DSM-IV do not contain categories that correspond with the clinical experience of many experts. The application of the WHO criteria should be possible, but this might fail due to big intercultural and individual differences in defining normal sexuality as the point of origin for pathological aberrances. Later some nosological concepts and therapeutic approaches are presented. The criticism of the term of "sexual addiction" is followed by the criticism of the criticism. The article ends with the conviction, that it should be a useful and reasonable challenge for psychiatrists to come to a reliable classification of this disorder to provide easier access to serious and professional help to those who often suffer enormous pain and shame. PMID:20926060

  19. Epithelioid melanocytic nevus with tubule and pseudoacini formation.

    PubMed

    Uhlenhake, Elizabeth E; Smoller, Bruce R; Gardner, Jerad M; Shalin, Sara C

    2015-03-01

    A 26-year-old female presented with a 7 mm irritated pink-red papule on the left posterior shoulder. A shave biopsy revealed a dermal proliferation of epithelioid cells arranged in small nests with central lumen-like structures resembling glands set in a densely sclerotic stroma. S100 and Melanoma antigen recognized by T cells 1 (MART-1) immunohistochemical positivity confirmed a dermal melanocytic neoplasm. Pan-cytokeratin and cytokeratin 7 were negative within the nests ruling out an adnexal neoplasm or metastatic adenocarcinoma. A Spitz nevus variant characterized by the presence of focal tubular structures (tubular epithelioid cell nevus) has rarely been described in the literature and is of uncertain biological significance. Similar structures have also been observed in Clark/dysplastic nevi and melanoma. Glandular differentiation is seen in a wide variety of benign and malignant epithelial neoplasms; however, melanocytes are not known to be capable of forming true glands. The exact mechanism and significance of this phenomenon are currently unknown. Certain postulations include central melanocyte apoptosis, autocrine or paracrine factor secretion or retraction artifact caused by tissue fixation. This distinctive finding is important to recognize in order to avoid misdiagnosis as a glandular neoplasm.

  20. [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

  1. Coexistent trichilemmoma and trichoblastoma without associated nevus sebaceus.

    PubMed

    Stowman, A M; Griffin, M M; Kanner, W A; Tchernev, G; Chokoeva, A A; Wollina, U; Lotti, T; Fioranelli, M; Roccia, M G; Maximov, G K; Patterson, J W

    2016-01-01

    Trichilemmoma and trichoblastoma are benign adnexal neoplasms derived from the hair follicle unit. While trichilemmomas are closely associated with the epidermis, trichoblastomas are found within the dermis and subcutaneous tissue. Both tumors have been reported to arise within nevus sebaceus of Jadassohn (NSJ). We present a 42-year-old white male with a 5 mm crusted, erythematous papule on the right occipital scalp that had been present for years. A shave biopsy was performed and read as trichilemmoma involving the biopsy base. The patient returned for follow-up 2 months later with recurrence of a crusted papule, measuring 9 mm in greatest diameter at the site of the previous biopsy. The lesion was excised for complete histologic evaluation, diagnosed as trichilemmoma with verrucoid features and associated basaloid proliferation with adnexal differentiation, again involving the biopsy base. The lesion recurred 2 months later in the form of an 8 mm multilobulated pink nodule. It was again excised and diagnosed as trichoblastoma with overlying trichilemmoma. The significance of this finding is that coexistent lesions do not necessarily necessitate a preexisting nevus sebaceous. Rather, this finding supports the notion of a common stem cell capable of differentiating toward the various portions of the hair follicle unit and adnexal structures. The idea is that any portion of the skin adnexal structure may develop out of a pluripotential germ cell and develop into a tumor. PMID:27373129

  2. 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…

  3. 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)

  4. "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

  5. 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

  6. [Clinical Phenotypes in Guillain-Barré Syndrome].

    PubMed

    Koga, Michiaki

    2015-11-01

    Guillain-Barré syndrome can be classified into several phenotypes according to the type of predominantly disturbed nerve fibers, distribution of muscular weakness, and electrophysiological and pathological findings. Although several regional variants including Fisher syndrome and pharyngeal-cervical-brachial weakness were initially reported in Western researchers, many labor-intensive studies by Japanese researchers have significantly contributed to defining and highlighting these variants. This review summarizes the several regional variants of Guillain-Barré syndrome while highlighting the substantial contributions made by Japanese investigators. Furthermore, a new regional variant named "distal limb weakness" is proposed, in which regional weakness of hands and feet is observed throughout the disease course. It is considered a mild phenotype of acute axonal motor neuropathy after Campylobacter jejuni enteritis.

  7. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    PubMed Central

    2012-01-01

    Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluations in this patient allowed us to detect improvements in the psychotic symptoms following treatment with risperidone and selective serotonin reuptake inhibitors, suggesting that this combined therapy may significantly improve the clinical outcome in patients who have Capgras syndrome. PMID:23186382

  8. 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

  9. The serotonin irritation syndrome--a new clinical entity?

    PubMed

    Giannini, A J; Malone, D A; Piotrowski, T A

    1986-01-01

    The literature on the possible existence of a "serotonin irritation syndrome" is examined. This syndrome is an anxiety state occurring in the presence of elevated levels of atmospheric or ambient cations and is associated with elevated central and peripheral serotonin levels. Investigation of these cations' effects on microbes, insects, and mammals, including humans, shows a disruption of normal activity. It is suggested that clinicians become acquainted with the potential relationship between cation exposure and serotonin in their treatment of anxious patients. Further research exploring the etiology and diagnostic definition of this entity is urged. PMID:2416736

  10. 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.

  11. 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

  12. Rapidly growing pigmented tumor on a scalp nevus sebaceous of a pediatric patient: Observation or excision.

    PubMed

    Gaitan-Gaona, Francisco; Said, Mirra C; Galvan-Linares, Aldo; Palafox-Vigil, Gloria; Valdes-Rodriguez, Rodrigo

    2014-07-15

    A 14-year-old girl presented with a new, rapidly growing, pigmented tumor on a previously existing yellowish, verrucous plaque on the scalp. The patient received complete surgical excision. Routine histology ruled out basal cell carcinoma (BCC) and the histological diagnosis was pigmented trichoblastoma arising in nevus sebaceous (NS). It is important to define management for new lesions developing in pediatric patients with existing nevus sebaceus.

  13. Extensive nevus comedonicus involving the palm: questionable role of the pilosebaceous unit in pathogenesis.

    PubMed

    Ganjoo, Shikhar; Mohanan, Saritha; Kumari, Rashmi; Thappa, Devinder M; Rajesh, Nachiappa G

    2014-01-01

    A 10-year-old boy had multiple grouped pits with black plugs arranged along the lines of Blaschko on his left chest, arm, and palm. Involvement of the palms is rarely reported in the literature. Recent reports have described mosaic acneiform conditions that could share pathogenetic mechanisms with nevus comedonicus. We briefly review the literature on mosaic conditions with acneiform lesions including nevus comedonicus.

  14. Agminated Blue Nevus: Two Case Reports and a Mini-review of the Literature.

    PubMed

    Paolino, Giovanni; Didona, Dario; Lopez, Teresa; Alesini, Francesco; Cantisani, Carmen; Richetta, Antonio G; Soda, Giuseppe; Calvieri, Stefano

    2016-04-01

    Agminated blue nevus (ABN) is a melanocytic nevus rarely mentioned in the literature and not well known. The term agminated is used when many blue nevi are clustered together in a sharply demarcated area ≤10 cm. Specific dermatoscopic features have not currently been clearly defined. We describe two cases of ABN and provide a review of the literature, reporting the main points in order to facilitate the diagnosis of this rare entity.

  15. 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

  16. The clinical utility of ultrasonography for rotator cuff disease, shoulder impingement syndrome and subacromial bursitis.

    PubMed

    Awerbuch, Mark S

    2008-01-01

    Periarticular shoulder disorders are common in clinical practice, and diagnosis is often difficult. Medicare statistics indicate that between 2001 and 2006 the use of diagnostic shoulder ultrasonography increased significantly. Rotator cuff disease, shoulder impingement syndrome and subacromial bursitis are among the most common diagnoses reported on shoulder ultrasonography. Shoulder ultrasonography is useful in the diagnosis of full thickness tears, but its utility for other rotator cuff disorders, shoulder impingement syndrome and subacromial bursitis is less well established. PMID:18205566

  17. 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

  18. 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.

  19. 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. PMID:27630800

  20. [An ischemic syndrome of the oculumotor nucleus: associated clinical and anatomical variations on a theme].

    PubMed

    Bonnaud, I; Salama, J

    2003-09-01

    Nuclear syndrome of the oculomotor nerve was first described in 1981, it is characterized by the association of an ipsilateral third nerve palsy with a paresis of elevation in the contralateral eye. This syndrome can be caused by vascular or tumoral lesions in the upper midbrain. It is rarely due to ischemic unilateral mesencephalic lesions, because ischemic lesions of the midbrain are usually integrated in a diffuse involvement of the brainstem and the thalamo-sub-thalamic region. In case of nuclear syndrome of the third nerve due to isolated upper midbrain infarct in the paramedian territory, dependent on branches of the basilar artery, oculomotor symptoms are frequently isolated. On the contrary, in fascicular syndromes of the third nerve, resulting from stroke in more lateral territories upon branches of the posterior cerebral artery, many neurological symptoms are associated with the oculomotor signs. We describe 3 patients presenting with a characteristic nuclear syndrome of the third nerve, resulting from a unilateral paramedian ischemic stroke in the upper midbrain, confirmed by cerebral CT scan or MRI examination. Clinical presentation differed in each case, and marked contralateral hemiparesia, cerebellar syndrome and focal asterixis were associated in various ways with the stereotyped oculomotor disorders. In the 3 cases, the nuclear syndrome of the third nerve was associated with fascicular involvement of the nerve, in an unusual clinical picture. The theoretical distinction between nuclear and fascicular syndromes is supported by the anatomical description of the arterial segmentation in the upper midbrain, which remains debated since the first description. According to the variability of clinical presentations, it seems that the arterial territories may be more variable than initially described. Therefore, ischemic lesions of the upper midbrain may involve some vascular borderzones with a high inter-individual variability. Upper midbrain strokes may

  1. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    PubMed Central

    Mittal, Kundan; Kaushik, Jaya Shankar; Kaur, Gurpreet; Aamir, Mohd; Sharma, Suvasini

    2014-01-01

    The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly. PMID:25024575

  2. 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…

  3. 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.

  4. Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum.

    PubMed

    Pérez-Andreu, Joaquín; Ray, Victor Glenn; Arribas, José María; Sánchez, Sergio Juan

    2015-06-01

    Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.

  5. 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

  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. Reclassification of clinical sleep disorders using traditional models of syndromic, neuroanatomic, pathophysiological and etiological diagnosis.

    PubMed

    Spitzer, A Robert

    2014-09-01

    Existing classifications of central nervous system sleep disorders do not often provide tools to diagnose the majority of patients complaining of sleep-related symptoms, nor always guide effective treatment. I present a novel classification system that completely separates clinical syndromes from anatomical localization, pathophysiology, and etiology. The clinical syndrome I present can describe the majority of patients, but can be fractionated into individual subgroups for further study. By then separating the anatomy and physiology from the symptoms, an avenue of research becomes available to study the different possible structures that regulate sleep, that may be damaged and cause syndromes of sleep dysfunction. Some of these may produce symptoms that overlap with narcolepsy and some may be distinct. Because the clinical syndrome should be distinguished from anatomy or physiology, I have proposed the term narcoleptiform syndrome for the clinical syndrome. The model also clearly separates etiology from anatomy in a classical neurological manner. This allows etiology, localization and symptoms to be studied separately. It is likely that different etiologies may produce damage in areas that produce similar syndromes. For example, in this model, different causes of damage to the orexin nucleus would result in the same clinical syndrome. This reinforces the concept of studying anatomy, symptoms and etiology separately. By studying the relationship of syndromes or symptoms to anatomic localization and pathophysiology, it should be possible to test novel approaches to treatment based on different underlying structure or function. For example, patients with lesions in the ventrolateral preoptic nucleus or the thalamic intralaminar nuclei may both present with insomnia symptoms but need different treatment; or they might present with symptoms overlapping narcolepsy (a narcoleptiform syndrome) yet need different treatment. In some cases, a single treatment may cross over

  8. Shaken baby syndrome: pathogenetic mechanism, clinical features and preventive aspects.

    PubMed

    Vitale, A; Vicedomini, D; Vega, G R; Greco, N; Messi, G

    2012-12-01

    The shaken baby syndrome (SBS) is an extremely serious form of child abuse and a leading cause of death and disability in childhood. The syndrome usually occurs in infants younger than 1 year when a parent or a care-giver tries to stop the baby from crying by vigorous manual shaking. The repetitive oscillations with rotational acceleration of the head can result in injuries of both vascular and neuronal structures. The most frequent injuries associated with SBS include encephalopathy, retinal hemorrhages, and subdural hemorrhage. Fractures of the vertebrae, long bones, and ribs may also be associated with the syndrome. Victims of abuse have various presenting signs and symptoms ranging from irritability, decreased responsiveness and lethargy to convulsions, and death. Diagnosis is often difficult because usually parents or caregivers not tell the truth about what has happened to their child and because usually there is no external evidence of trauma. However, the syndrome might be suspected if the information provided are vague or changing and when the child presents with retinal hemorrhages, subdural hematoma, or fractures that cannot be explained by accidental trauma or other medical conditions. Of infants who are victims of SBS, approximately 15% to 38% die and 30% are at risk of long-term neurologic sequelae, including cognitive and behavioural disturbances, motor and visual deficits, learning deficits and epilepsy. Parents and caregivers must be warned about the dangers of shaking infants.

  9. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome.

    PubMed

    Giugni, Aldo Schenone; Mani, Shylaja; Kannan, Subramanian; Hatipoglu, Betul

    2013-01-01

    Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia. PMID:23555062

  10. Clinics in diagnostic imaging (40). Iliotibial band syndrome.

    PubMed

    Hodge, J C

    1999-08-01

    A 51-year-old male cyclist presented with a mass over the lateral portion of his knee. MR scans showed a cystic collection deep to the iliotibial band (ITB). Diagnosis of the ITB syndrome and its differentiation from other cause of painful lateral knee masses, such as meniscal cyst, lateral collateral ligament injury and Segond fracture, are discussed.

  11. Charles Bonnet Syndrome: An Often-Misunderstood Clinical Condition.

    ERIC Educational Resources Information Center

    Springer, Joseph M.

    2000-01-01

    This article discusses Charles Bonnet syndrome (CBS), a disability in which the individual has visual hallucinations that are complex, persistent, or repetitive, retains full or partial insight into the unreality of the hallucinations, does not have hallucinations in other modalities, and does not have delusional ideation. (Contains 12…

  12. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome.

    PubMed

    Giugni, Aldo Schenone; Mani, Shylaja; Kannan, Subramanian; Hatipoglu, Betul

    2013-01-01

    Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia.

  13. Exophthalmos: A Forgotten Clinical Sign of Cushing's Syndrome

    PubMed Central

    Giugni, Aldo Schenone; Mani, Shylaja; Kannan, Subramanian

    2013-01-01

    Exophthalmos is typically associated with Graves' ophthalmopathy. Although originally described by Harvey Cushing, exophthalmos is an underappreciated sign of Cushing's syndrome. We present a case of a 38-year-old female who presented with severe bilateral proptosis and was subsequently diagnosed with Cushings disease. We discuss the possible mechanisms causing exophthalmos in patients with either endogenous or exogenous hypercortisolemia. PMID:23555062

  14. 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…

  15. Eponyms, morphology, and pathogenesis of some less mentioned types of melanocytic nevi.

    PubMed

    Fernandez-Flores, Angel

    2012-08-01

    Some types of melanocytic nevi are seldom mentioned in the literature and are therefore less well known. In the current study, we focus on the concepts of eponyms, synonyms, clinical presentation, and morphology of the following types: Meyerson nevus, cockarde (or cockade) nevus, Hori nevus, Sun nevus, Hidanos nevus, Duperrat nevus, Spark nevus, nevus spilus, eclipse nevus, Kerl nevus, and Kopf nevus.

  16. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings.

    PubMed

    Catović, Amra

    2005-08-01

    Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002) correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogenetics examinations in 30(63,8%) examinees and excluded in 17 (36,2%) examinees. The most frequent karyotype is monosomy of X chromosome (45,X) found at 63,3%, than isochromosome of Xq (46,XisoXq) found at 16,7%, mosaic form (46,XX/45,X) and deletion of Xp (46,XdelXp) both at 6,7%, than deletion of Xq (46,XdelXq) and ring of Xp (46,XX/46,XringXp) both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  17. Experience with Clinically Diagnosed Down Syndrome Children Admitted with Diarrhea in an Urban Hospital in Bangladesh.

    PubMed

    Das, Rina; Sarker, Anupam; Saha, Haimanti; Bin Shahid, Abu Sadat Mohammad Sayeem; Shahunja, K M; Chisti, Mohammod Jobayer

    2015-01-01

    There is lack of information in the medical literature on clinically diagnosed Down syndrome children presenting with diarrhea. Our aim was to describe our experience with Down syndrome patients admitted with diarrhea by evaluating the factors associated with Down syndrome presenting with diarrheal illness. In this retrospective chart analysis, we enrolled all the diarrheal children aged 0-59 months admitted to the Dhaka Hospital of the International Centre for Diarrheal Disease Research, Bangladesh (icddr, b), from March 2011 to February 2013. Down syndrome children with diarrhea constituted cases and randomly selected threefold diarrheal children without Down syndrome constituted controls. Among 8422 enrolled children 32 and 96 were the cases and the controls, respectively. Median age (months) of the cases and the controls was comparable (7.6 (4.0, 15.0) versus 9.0 (5.0, 16.8); p = 0.496). The cases more often presented with severe acute malnutrition, developmental delay, congenital heart disease, hypothyroidism, sepsis, hypocalcemia, developed hospital acquired infection (HAI) during hospitalization, and required prolonged stay at hospital compared to the controls (for all p < 0.05). Thus, diarrheal children with clinically diagnosed Down syndrome should be investigated for these simple clinical parameters for their prompt management that may prevent HAI and prolonged hospital stay.

  18. Experience with Clinically Diagnosed Down Syndrome Children Admitted with Diarrhea in an Urban Hospital in Bangladesh

    PubMed Central

    Das, Rina; Sarker, Anupam; Saha, Haimanti; Bin Shahid, Abu Sadat Mohammad Sayeem; Chisti, Mohammod Jobayer

    2015-01-01

    There is lack of information in the medical literature on clinically diagnosed Down syndrome children presenting with diarrhea. Our aim was to describe our experience with Down syndrome patients admitted with diarrhea by evaluating the factors associated with Down syndrome presenting with diarrheal illness. In this retrospective chart analysis, we enrolled all the diarrheal children aged 0–59 months admitted to the Dhaka Hospital of the International Centre for Diarrheal Disease Research, Bangladesh (icddr, b), from March 2011 to February 2013. Down syndrome children with diarrhea constituted cases and randomly selected threefold diarrheal children without Down syndrome constituted controls. Among 8422 enrolled children 32 and 96 were the cases and the controls, respectively. Median age (months) of the cases and the controls was comparable (7.6 (4.0, 15.0) versus 9.0 (5.0, 16.8); p = 0.496). The cases more often presented with severe acute malnutrition, developmental delay, congenital heart disease, hypothyroidism, sepsis, hypocalcemia, developed hospital acquired infection (HAI) during hospitalization, and required prolonged stay at hospital compared to the controls (for all p < 0.05). Thus, diarrheal children with clinically diagnosed Down syndrome should be investigated for these simple clinical parameters for their prompt management that may prevent HAI and prolonged hospital stay. PMID:27351021

  19. 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

  20. 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

  1. 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

  2. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

    PubMed

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

    2015-02-01

    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.

  3. In situ malignant melanoma on nevus spilus in an elderly patient.

    PubMed

    Corradin, Maria Teresa; Giulioni, Erika; Fiorentino, Renzo; Santeufemia, Davide Adriano; Re, Giovanni Lo; Vettorello, Angelo

    2014-03-01

    Nevus spilus is the term usually given to a pigmented skin lesion, congenital or acquired, that may occur anywhere on the body, consisting of a large light tan patch with numerous superimposed darker scattered maculae or papulae that are flat or slightly raised. For a long time, nevus spilus was believed to be a benign lesion. However, in 1957 Perkinson reported a melanoma appearing on nevus spilus for the first time. Since then other reports about melanomas developing on nevus spilus have been published, sometimes with a fatal outcome. We describe the case of an 80-year-old male patient with a congenital nevus just above his left knee. The lesion had remained unchanged over time, but some months before his checkup the patient noticed a darker area in the lesion that had continued to enlarge. The lesion was removed and histological examination revealed an in situ malignant melanoma. Although nevus spilus is not normally considered a precursor of melanoma, the potentiality of malignant transformation requires regular monitoring, and careful checkups are recommended and justified.

  4. [The post-pericardiotomy syndrome. Incidence of clinical and immunological changes].

    PubMed

    Govea Arreguín, A; Cortés, J J; Reyes, P A

    1984-01-01

    We report the clinical and serological studies in patients who underwent pericardiotomy. Seventy three per cent of them developed antisarcolemma antibodies 4 weeks after surgery, and a third of them also had antimitochondrial antibodies. However, clinical post-pericardiotomy syndrome was rare; only 7% of the patients fulfilled the criteria for this diagnosis. Although immune responses against tissue antigens are frequent as a consequence of surgical trauma, the clinical manifestations are rare.

  5. [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

  6. Protein-Based Classifier to Predict Conversion from Clinically Isolated Syndrome to Multiple Sclerosis.

    PubMed

    Borràs, Eva; Cantó, Ester; Choi, Meena; Maria Villar, Luisa; Álvarez-Cermeño, José Carlos; Chiva, Cristina; Montalban, Xavier; Vitek, Olga; Comabella, Manuel; Sabidó, Eduard

    2016-01-01

    Multiple sclerosis is an inflammatory, demyelinating, and neurodegenerative disease of the central nervous system. In most patients, the disease initiates with an episode of neurological disturbance referred to as clinically isolated syndrome, but not all patients with this syndrome develop multiple sclerosis over time, and currently, there is no clinical test that can conclusively establish whether a patient with a clinically isolated syndrome will eventually develop clinically defined multiple sclerosis. Here, we took advantage of the capabilities of targeted mass spectrometry to establish a diagnostic molecular classifier with high sensitivity and specificity able to differentiate between clinically isolated syndrome patients with a high and a low risk of developing multiple sclerosis. Based on the combination of abundances of proteins chitinase 3-like 1 and ala-β-his-dipeptidase in cerebrospinal fluid, we built a statistical model able to assign to each patient a precise probability of conversion to clinically defined multiple sclerosis. Our results are of special relevance for patients affected by multiple sclerosis as early treatment can prevent brain damage and slow down the disease progression.

  7. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

    PubMed

    Bezniakow, Natalia; Gos, Monika; Obersztyn, Ewa

    2014-01-01

    The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.

  8. 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

  9. Metastatic melanoma in association with a giant congenital melanocytic nevus in an adult: controversial CGH findings.

    PubMed

    Machan, Salma; Molina-Ruiz, Ana M; Fernández-Aceñero, Maria J; Encabo, Beatriz; LeBoit, Philip; Bastian, Boris C; Requena, Luis

    2015-06-01

    Giant congenital melanocytic nevi (GCMNs) represent a distress to patients for 2 reasons: one is disfigurement, and the other is the increased risk of developing secondary melanocytic tumors, such as benign proliferative nodules (BPNs) and malignant melanoma (MM). BPN present as a rapid growth nodule arising within a congenital melanocytic nevus (CMN) that often ulcerates, occurs in children younger than 2 years of age. BPNs arising within a CMN are exceedingly rare after childhood, and very few cases have been described in adults. Despite the worrisome clinical and histologic findings of BPN, most laboratory investigations seem to support their benignity. The distinction between MM and BPN is extremely important, but the histopathology of BPN of GCMN can be a challenge to differentiate from MM. In the recent years, molecular tests that investigate DNA copy number alterations such as fluorescence in situ hybridization and comparative genomic hybridization have shown promise to help guide the diagnosis of ambiguous melanocytic proliferations arising within CMNs. We report the case of a 22-year-old woman with a nodule arising in a GCMN and with an axillary mass suggesting a nodal metastasis of melanoma, and discuss the unusual clinical, histopathologic, and molecular findings that make this case particularly interesting.

  10. 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

  11. 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

  12. Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance

    PubMed Central

    Sheth, Shivanand; Leys, Anita; Nicholson, Anjali; Mack, Heather G.; Colville, Deb

    2015-01-01

    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

  13. 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

  14. 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

  15. 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

  16. [Linburg-Comstock syndrome. Epidemiologic and anatomic study, clinical applications].

    PubMed

    Hamitouche, K; Roux, J L; Baeten, Y; Allieu, Y

    2000-05-01

    The Linburg-Comstock (LC) syndrome is distinguished by the inability to actively flex the interphalangeal (IP) joint of the thumb without simultaneously flexing the distal IP joint of the index finger. Any resistance to this 'parasitic' reaction causes pain on the palmar side of the wrist or in the distal part of the forearm; this is due to an anomalous tendinous connection between the flexor pollicus longus (FPL) and the flexor digitorum profundus (FDP). An epidemiological study was carried out on 264 individuals (a total of 528 hands were examined), and the LC syndrome was found in 98 subjects (37%); women were more frequently affected than men, and bilaterally rather than unilaterally. In addition, we dissected 26 fresh cadaver upper limbs, and in seven cases found an anomalous connection between FPL and FDP. We also examined the case of a young violinist with bilateral LC syndrome, who complained of pain in the distal part of the left forearm after prolonged musical exercises. Surgical investigation determined a complete fusion between FPL and FDP of the index with a common tendon. Treatment consisted of splitting this common tendon to form two separate tendons, thereby permitting a certain degree of independence between the thumb and index finger, and which considerably improved the violinist's musical performance. A review of the literature showed that there was a large quantity of anatomical descriptions available on these types of connection. Certain publications also provide an extremely precise report on the anthropological significance of these anomalies.

  17. 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

  18. Cushing's syndrome: from physiological principles to diagnosis and clinical care.

    PubMed

    Raff, Hershel; Carroll, Ty

    2015-02-01

    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.

  19. Abdominal vascular syndromes: characteristic imaging findings*

    PubMed Central

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. PMID:27777480

  20. 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

  1. Spontaneous Involution of Congenital Melanocytic Nevus With Halo Phenomenon.

    PubMed

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

    2015-12-01

    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.

  2. 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

  3. 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.

  4. 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

  5. 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

  6. Pelvic congestion syndrome and left renal compression syndrome - clinical features and therapeutic approaches.

    PubMed

    Jeanneret, Christina; Beier, Konstantin; von Weymarn, Alexander; Traber, Jürg

    2016-01-01

    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

  7. 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

  8. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

    PubMed

    Al-Hassnan, Zuhair N; Rashed, Mohamed S; Al-Dirbashi, Osama Y; Patay, Zoltan; Rahbeeni, Zuhair; Abu-Amero, Khaled K

    2008-01-15

    Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurological manifestations. In this work, we report the findings of HHH syndrome in 3 Saudi siblings. The 4-year-old proband presented with recurrent Reye-like episodes, hypotonia, and multiple stroke-like lesions on brain MRI. Biochemical and molecular analysis confirmed that she had HHH syndrome. She significantly improved on protein restriction and sodium benzoate. Her two older siblings have milder phenotypes with protein intolerance and learning problems. In comparison to their sister, their homocitrulline and orotic acid were only mildly elevated even before treatment. The three patients were homozygous for a novel mutation in ORNT1 with a Gly220Arg change. In view of the CNS lesions, which initially were felt to be suggestive of MELAS, we sequenced the entire mtDNA genome and no potential pathogenic mutations were detected. Analysis of ORNT2 did not provide explanation of the clinical and biochemical variability. This work presents a yet unreported CNS involvement pattern, notably multiple supratentorial stroke-like lesions in association with HHH syndrome. Moreover, it illustrates considerable clinical/biochemical correlation, and describes a novel mutation. We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI. PMID:17825324

  9. 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.

  10. 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…

  11. 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.

  12. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

    PubMed Central

    Al Danaf, Jad; Madara, John; Dietsche, Caitlin

    2015-01-01

    A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS) and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity. PMID:26170837

  13. Os trigonum syndrome: a clinical entity in ballet dancers.

    PubMed

    Wredmark, T; Carlstedt, C A; Bauer, H; Saartok, T

    1991-06-01

    Thirteen Swedish National classic ballet dancers were surgically treated for an "os trigonum syndrome."Their main symptom was an impingement pain in the hind foot while actively plantarflexing the ankle during ballet dancing. The surgical procedure included excision of an os trigonum or a prominent lateral posterior process of the talus, together with division of the flexor hallucis tendon sheath if it was thickened. This procedure was safe and resulted in return of the dancers to the same level of ballet dancing within 5 to 10 weeks.

  14. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

    PubMed

    Malfait, Fransiska; Wenstrup, Richard J; De Paepe, Anne

    2010-10-01

    Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity. It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the α1 and the α2-chain of type V collagen, respectively. However, because no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined patient group, this number may underestimate the real proportion of patients with classic Ehlers-Danlos syndrome harboring a mutation in one of these genes. In the majority of patients with molecularly characterized classic Ehlers-Danlos syndrome, the disease is caused by a mutation leading to a nonfunctional COL5A1 allele and resulting in haploinsufficiency of type V collagen. A smaller proportion of patients harbor a structural mutation in COL5A1 or COL5A2, causing the production of a functionally defective type V collagen protein. Most mutations identified so far result in a reduced amount of type V collagen in the connective tissues available for collagen fibrillogenesis. Inter- and intrafamilial phenotypic variability is observed, but no genotype-phenotype correlations have been observed. No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable.

  15. The micropenis syndrome: clinical observations and expectations for growth.

    PubMed

    Kogan, S J; Williams, D I

    1977-08-01

    We reviewed 34 genotypic male subjects with a true micropenis to determine the clinical situations in which micropenis is encountered and the types of therapy resulting in growth. The relationship of clinically functioning testicular tissue to growth is noted. Diagnostic modalities, including human chorionic gonadotropin stimulation, are discussed, as well as a plan for individual assessment and therapy.

  16. [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.

  17. 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

  18. 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

  19. 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.

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. Guillain-Barré syndrome variants in Emilia-Romagna, Italy, 1992-3: incidence, clinical features, and prognosis

    PubMed Central

    Clinical, E.; Neurology, E. P.

    1998-01-01

    OBJECTIVES—To estimate the incidence rate of Guillain-Barré syndrome variants in an unselected population and to describe their clinical features and prognosis.
METHODS—A two year prospective multicentre study on the incidence and prognosis of Guillain-Barré syndrome was performed in Emilia-Romagna, northern Italy (3 909 512 inhabitants). A surveillance system was instituted within the study area, which comprised all the neurological departments, private and public general hospitals, and practising neurologists. The international classification of diseases (ICD) codes 357.XX (any peripheral neuropathy) of hospital discharges were also reviewed.
RESULTS—Data were separately analysed for Miller Fisher syndrome and other Guillain-Barré syndrome variants. During the study period 18 patients with Guillain-Barré syndrome variants including seven with Miller Fisher syndrome were recruited; the incidence rates were 0.14/100 000/year (95% confidence interval (95% CI) 0.07-0.25) for Guillain-Barré syndrome variants (excluding Miller Fisher syndrome) and 0.09/100 000/year (95% CI 0.04-0.18) for Miller Fisher syndrome. Guillain-Barré syndrome variants alone (excluding Miller Fisher syndrome) accounted for 10.5% of total cases. Death and relapses were not found. Details of clinical, electrophysiological, and CSF findings of Guillain-Barré syndrome variants are provided.
CONCLUSIONS—Guillain-Barré syndrome variants other than Miller Fisher syndrome, as obtained through a population based study, account for about 10% of total cases of Guillain-Barré syndrome and, as a whole, have a good prognosis. Their clinical features are heterogeneous; bifacial weakness (associated with other signs, mainly sensory disturbances) represents the most frequent finding.

 PMID:9703176

  5. 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

  6. 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.

  7. 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

  8. Fragile X syndrome: A review of clinical management

    PubMed Central

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-01-01

    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  9. Fragile X syndrome: A review of clinical management.

    PubMed

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-08-01

    The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5' untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance. PMID:27672537

  10. 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

  11. 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

  12. Fragile X syndrome: A review of clinical management

    PubMed Central

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-01-01

    Summary The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance.

  13. Angelman syndrome: review of clinical and molecular aspects.

    PubMed

    Bird, Lynne M

    2014-01-01

    "Angelman syndrome" (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmorphic features, as well as ataxia and other movement disturbances, are additional features seen in most affected individuals. AS is due to deficient expression of the ubiquitin protein ligase E3A (UBE3A) gene, which displays paternal imprinting. There are four molecular classes of AS, and some genotype-phenotype correlations have emerged. Much remains to be understood regarding how insufficiency of E6-AP, the protein product of UBE3A, results in the observed neurodevelopmental deficits. Studies of mouse models of AS have implicated UBE3A in experience-dependent synaptic remodeling. PMID:24876791

  14. Fragile X syndrome: A review of clinical management.

    PubMed

    Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J

    2016-08-01

    The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5' untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance.

  15. 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

  16. 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

  17. Periodontal manifestations and treatment of Sturge-Weber syndrome--report of two cases.

    PubMed

    Huang, J S; Chen, C C; Wu, Y M; Ho, K Y; Wang, C C; Ho, Y P; Liu, C S; Wang, Y P

    1997-02-01

    Encephalotrigeminal angiomatosis (Sturge-Weber syndrome) is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face and sometimes, the skull, jaws and oral soft tissues. Two patients came to the Kaohsiung Medical College Hospital's dental clinic with complaints of localized gingival enlargement or tumor-like swelling. Based on the presence of facial nevus flammeus, examinations of angiography, radiological evidence of calcific densities, and ipsilaterally intraoral vascular hyperplasia in the lip, cheek and gingiva, encephalotrigeminal angiomatosis was diagnosed. Dental management included plaque control instructions, scaling, root planing and periodontal surgery. Recurrence of gingival enlargement in both cases was noted, so periodontal surgery was performed a second time. Close follow up and complete plaque control have kept the periodontal condition fairly well under control in these two cases. We introduce the oral manifestations and the experience of treatments in these two cases.

  18. 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

  19. 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

  20. Clinical profiles, occurrence, and management of adolescent patients with HAIR-AN syndrome.

    PubMed

    Omar, Hatim A; Logsdon, Stephanie; Richards, Jessica

    2004-07-08

    The syndrome of hyperandrogenism, insulin resistance, and acanthosis nigricans (HAIR-AN) is a subphenotype of the polycystic ovary syndrome. It is one of the most common causes of menstrual problems, hyperandrogenic symptoms, and insulin resistance among young women. Review of clinical data in an outpatient adolescent clinic showed that of the 1,002 young women (ages 10-21 years) attending the clinic over a 2-year period, 50 (5%) were diagnosed with HAIR-AN syndrome. Mean age of the patients was 15.5, initial mean weight at diagnosis was 94.5 kg, and the mean BMI was 33.33 kg/m2. Patients were treated with a weight-stabilization and -reduction program, oral contraceptive pills, and in most cases metformin. Of the patients, 80% were compliant with the follow-up and treatment regimen, 60% maintained or reduced their weight, 95% had regular menstrual cycles, and in most patients, the acne and/or hirsutism were the same or better than at the start of treatment. We conclude that HAIR-AN syndrome is a common disease in young women and multifaceted, aggressive treatment appears to be effective in reducing the severity of symptoms and preventing further consequences.

  1. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

    PubMed Central

    Romeo Bertola, Débora; Honjo, Rachel S.; Baratela, Wagner A.R.

    2016-01-01

    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

  2. [Clinical case of management of a patient with Guillain-Barre syndrome].

    PubMed

    Popov, A V; Babak, C I; Murashko, N K

    2012-01-01

    Syndrome of Giyena-Barre can arise up in any age, in different regions, for men more frequent, than for women. There are descriptions of clinical supervisions of syndrome in domestic literature, combining with the defeat of the nervous system as a result of different pathogens which are procatarxiss in the start of mechanisms of immune attack on the albumens of mielina. However this disease continues to remain one of most heavy, requiring neyroreanimacionnykh measures, that causes the necessity of development of new methods of treatment in same queue.

  3. Platypnea–Orthodeoxia Syndrome: Multiple Pathophysiological Interpretations of a Clinical Picture Primarily Consisting of Orthostatic Dyspnea

    PubMed Central

    De Vecchis, Renato; Baldi, Cesare; Ariano, Carmelina

    2016-01-01

    Platypnea–orthodexia syndrome (POS) is often a challenging diagnostic problem. It is characterized by dyspnea that is accentuated by standing or sitting positions due to a marked fall in blood oxygen saturation, and instead is improved by assuming the lying position. In the present brief review, the authors address the pathophysiology of POS, and outline its clinical symptoms as well as the main modalities of diagnostic evaluation and possible therapeutic options. Moreover, some problems concerning much-debated issues and persistent uncertainties about the pathophysiology of POS are presented along with the description of the diagnostic and therapeutic resources currently available for this syndrome. PMID:27669319

  4. 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

  5. Platypnea-Orthodeoxia Syndrome: Multiple Pathophysiological Interpretations of a Clinical Picture Primarily Consisting of Orthostatic Dyspnea.

    PubMed

    De Vecchis, Renato; Baldi, Cesare; Ariano, Carmelina

    2016-01-01

    Platypnea-orthodexia syndrome (POS) is often a challenging diagnostic problem. It is characterized by dyspnea that is accentuated by standing or sitting positions due to a marked fall in blood oxygen saturation, and instead is improved by assuming the lying position. In the present brief review, the authors address the pathophysiology of POS, and outline its clinical symptoms as well as the main modalities of diagnostic evaluation and possible therapeutic options. Moreover, some problems concerning much-debated issues and persistent uncertainties about the pathophysiology of POS are presented along with the description of the diagnostic and therapeutic resources currently available for this syndrome. PMID:27669319

  6. 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…

  7. 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

  8. Clinical observation and neurological outcomes in "Alice in Wonderland" syndrome.

    PubMed

    Ho, C S; Shen, E Y; Liaw, S B; Huang, F Y

    1992-01-01

    Ten patients, aged from 3 to 10 years, who had either had attacks of perception errors of body schema and objects or had visual hallucination were enrolled from 1987 to 1990. Seven were boys and three, girls. The metamorphopsia or visual hallucination that has been named the "Alice in Wonderland syndrome" (AIWS) were the leading presentations. All the patients had preceding episodes of upper respiratory tract infection (URI) from two days to four weeks previously except for one who had had chickenpox within the immediate three days of being seen. Among these patients, six had received serological studies for Epstein-Barr (EB) virus infection. Two patients were indeed victims of acute EB virus infection as documented by positive IgM antibody against EB virus capsid antigen, the other three patients were highly suspected of having had recent EB virus infection as suggested by positive Heterophil antibody test and high IgG antibody titer against EB virus capsid antigen (1:320X). The duration of perception disorder ranged from four days to three months. All cases recovered completely, without sequelae. It is emphasized that any young children who present as acute episodes of AIWS should undergo examination for EB virus infection. The neurological outcome of AIWS seems to be good. PMID:1325095

  9. Tics and Tourette syndrome: clinical evaluation of 44 cases.

    PubMed

    Teive, H A; Germiniani, F M; Della Coletta, M V; Werneck, L C

    2001-09-01

    We evaluated 44 patients with tics and Tourette's syndrome (TS) emphasising the age of onset of symptoms, sex, classification and localization of tics, associated symptoms and signs and comorbidities. Thirty-three patients (75.2%) had TS defined criteria whereas 10 (22.7%) had chronic motor and/or vocal tics. Simple motor tics were found in 43 cases (97.7%), mainly affecting the eyes (43.2%), mouth (43.2%), face (34.1%). Simple vocal tics occurred in 33 (75%). Coprolalia was found in just 6 cases (13.6%) and copropraxia in just 2 (4.5%). Obsessive compulsive disorder and/or symptoms were found in 26 cases (59.1%) and attention deficit in 17 (38.6%). Eighteen patients (40.9%) had other disorders, such as alcoholism, tabagism, drug abuse, affective disorders, anxiety, sleep and learning disorders. The data obtained are similar to those found by other authors. We highlight the low frequency of coprolalia, as well as the associated neuropsychiatric disorders. PMID:11593273

  10. 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.

  11. [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

  12. Clinical Practice Guideline of Acute Respiratory Distress Syndrome

    PubMed Central

    Cho, Young-Jae; Moon, Jae Young; Shin, Ein-Soon; Kim, Je Hyeong; Jung, Hoon; Park, So Young; Kim, Ho Cheol; Sim, Yun Su; Rhee, Chin Kook; Lim, Jaemin; Lee, Seok Jeong; Lee, Won-Yeon; Lee, Hyun Jeong; Kwak, Sang Hyun; Kang, Eun Kyeong; Chung, Kyung Soo

    2016-01-01

    There is no well-stated practical guideline for mechanically ventilated patients with or without acute respiratory distress syndrome (ARDS). We generate strong (1) and weak (2) grade of recommendations based on high (A), moderate (B) and low (C) grade in the quality of evidence. In patients with ARDS, we recommend low tidal volume ventilation (1A) and prone position if it is not contraindicated (1B) to reduce their mortality. However, we did not support high-frequency oscillatory ventilation (1B) and inhaled nitric oxide (1A) as a standard treatment. We also suggest high positive end-expiratory pressure (2B), extracorporeal membrane oxygenation as a rescue therapy (2C), and neuromuscular blockage for 48 hours after starting mechanical ventilation (2B). The application of recruitment maneuver may reduce mortality (2B), however, the use of systemic steroids cannot reduce mortality (2B). In mechanically ventilated patients, we recommend light sedation (1B) and low tidal volume even without ARDS (1B) and suggest lung protective ventilation strategy during the operation to lower the incidence of lung complications including ARDS (2B). Early tracheostomy in mechanically ventilated patients can be performed only in limited patients (2A). In conclusion, of 12 recommendations, nine were in the management of ARDS, and three for mechanically ventilated patients. PMID:27790273

  13. 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.

  14. 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.

  15. 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

  16. Clinical trial design in prevention and treatment of acute respiratory distress syndrome.

    PubMed

    Curley, Gerard F; McAuley, Daniel F

    2014-12-01

    Our ability to define appropriate molecular targets for preclinical development and develop better methods needs to be improved, to determine the clinical value of novel acute respiratory distress syndrome (ARDS) agents. Clinical trials must have realistic sample sizes and meaningful end points and use the available observation and meta-analytical data to inform design. Biomarker-driven studies or defined ARDS subsets should be considered to categorize specific at-risk populations most likely to benefit from a new treatment. Innovations in clinical trial design should be pursued to improve the outlook for future interventional trials in ARDS.

  17. 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

  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. Familial glomerular disease with asymptomatic proteinuria and nephrotic syndrome: a new clinical entity.

    PubMed

    Mathis, B J; Calabrese, K E; Slick, G L

    1992-07-01

    Seventy-three members of a 100-member kindred with asymptomatic proteinuria, nephrotic syndrome, and progressive renal failure were studied. Of those studied, 11 members had progressed to end-stage renal disease and seven had significant proteinuria (greater than 1 g/24 hours) with normal renal function. The genetic mode of inheritance was autosomal dominant with variable penetrance and expressivity. Histopathologic changes were variable but included focal segmental glomerulosclerosis and diffuse glomerulosclerosis. Renal failure usually occurred in the fifth decade of life. The most consistent clinical finding was proteinuria without microscopic hematuria or other significant urinary sediment elements. This disease differed from Alport's hereditary nephritis and congenital nephrotic syndrome in age of onset, urinary findings, and associated conditions, that is, nerve deafness. The hereditary proteinuria and nephrotic syndrome described in this kindred represents another facet in the spectrum of hereditary renal disease.

  20. Central Sensitization in Functional Chronic Pain Syndromes: Overview and Clinical Application.

    PubMed

    Bettini, Liz; Moore, Ki

    2016-10-01

    The purpose of this review and clinical application article is to offer nurses up-to-date knowledge on peripheral and central sensitization in chronic functional pain syndromes, and to discuss therapies that have shown efficacy in treating various aspects of these disorders. Central sensitization is a result of changes in the peripheral and central nervous system due to noxious stimuli, such as illness or trauma. Once these changes occur, treatment for the associated syndromes requires a multimodal approach that includes behavioral pain psychology, physical therapy, and pharmacological agents that specifically target neuroinflammation, pain modulation, and amplification of pain pathways. More research needs to be conducted on the basis and patient perception of functional pain syndromes to reduce the morbidity and significant disability associated with these illnesses. Nurses have the opportunity to be at the forefront of this research because of their holistic and multidimensional approach to patient care, assessment, and symptom management. PMID:27553129

  1. [Clinical presentations of the secondary bilateral synchronization syndrome in adults with epilepsy].

    PubMed

    Fedin, A I; Generalov, V O; Amcheslavskaia, E V; Mishniakova, L P; Sadykov, T R

    2008-01-01

    One thousand eight hundreds and eighty patients with symptomatic and cryptogenic forms of focal epilepsy have been studied. Ninety patients (4.7%) had the secondary bilateral synchronization (SBS) syndrome in the EEG. Criteria of the syndrome are the presence of focal epileptiform activity in the EEG and SBS detected during the long-term video-EEG monitoring. In this group of patients, secondary generalized tonic-clonic, myoclonic and complex partial seizures were found. The clinical presentations of focal epilepsy were similar to the syndromes of idiopathic epilepsy in most cases. Long-term video-EEG monitoring is a method of choice in the instrumental diagnostics of these forms of epilepsy which are different in genesis and prognosis but similar in the kinematic characteristics.

  2. Sarcomatoid carcinoma arising in the congenital pigmented nevus after treatment with carbon dioxide snow freezing method.

    PubMed

    Nakajima, Rina; Komine, Mayumi; Miyamoto, Yukiko; Fusumae, Takayuki; Fujita, Yurika; Maekawa, Takeo; Murata, Satoru; Fukushima, Noriyoshi; Ohtsuki, Mamitaro

    2015-11-01

    We report a case of sarcomatoid carcinoma of the skin in a 63-year-old man who was treated with the carbon dioxide snow freezing method for a huge congenital pigmented nevus that extended from the right upper extremity to the right trunk during childhood. He had an exophytic red tumor on the nevus in the right upper extremity that grew slowly for 4 years and rapidly recently. Histological and immunohistochemical studies revealed both epithelial and mesenchymal malignancy in the same tumor. The epithelial component was composed of basaloid cells forming multiple nests with peripheral palisading, positive for keratins and BerEP4, implying basal cell carcinoma. The mesenchymal component was composed of spindle-shaped cells negative for keratins and positive for vimentin, suggesting sarcoma. This is, to our knowledge, the first report of sarcomatoid carcinoma arising in the primary pigmented nevus that had been treated by the carbon dioxide snow freezing method.

  3. [Down Syndrome--a clinical, cytogenetic and epidemiologic analysis of 165 patients].

    PubMed

    Boy, R; Neto, J G; Vargas, F R; Fontana, C; Almeida, J C; Llerena, J

    1995-01-01

    A clinical follow up of 165 Down Syndrome (DS) patients in an outpatient clinic programme at the Centro de Genética Médica (IFF - FIOCRUZ) was undertaken retrospectively. Clinical and laboratorial investigations were performed, such as cytogenetics and hematological analysis, thyroid hormones survey, abdominal ultrasound and cervical column X Rays. The clinical diagnosis of Down Syndrome was mostly performed during the first year of life, and 70% of all patients were under 4 years of age, being predominantly males. Trisomy 21 derived from non disjunction was found in 85% of the patients. The most common congenital malformation was cardiopathy (37.5%) and among all the clinical complications, repeated pneumonia could be evidenced in 30% of the patients, mainly during the first year of life. Leukopenia was observed in 14% of the patients and abdominal ultrasound scans allowed the early detection of biliary stones in 4.3% of the patients examined, a significative finding in the paediatric population. A prospective clinical programme aiming to anticipate the detection of clinical complications on at risk DS populations will fulfill its objectives and may act as a reducing factor in the infantile mortality rate.

  4. 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

  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. 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

  7. 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

  8. 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.

  9. 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

  10. 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

  11. Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

    PubMed

    Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

    2008-06-01

    The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults.

  12. Approach to clinical syndrome of jaundice and encephalopathy in tropics.

    PubMed

    Anand, Anil C; Garg, Hitendra K

    2015-03-01

    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.

  13. 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

  14. Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome.

    PubMed Central

    Menezes, A V; Lewis, T L; Buncic, J R

    1996-01-01

    AIMS/BACKGROUND: This study was undertaken to document visual function and acuity in patients with Aicardi syndrome, and to determine whether there is any relation between ocular features of the syndrome exhibited at birth and later visual function. METHODS: Fourteen patients with Aicardi syndrome, all examined and followed by the same ophthalmologist, were reviewed between 1975 and 1992 and their ocular characteristics and visual acuity described. It was hypothesised that larger lacunae may be associated with poorer clinical outcome and therefore the relation between these two variables was investigated. RESULTS: Visual acuity as documented by Snellen, Sheridan-Gardner, preferential looking, or pattern visual evoked potential tests was in the normal to low normal range in six eyes of four patients. Visual function correlated significantly with macular appearance. Good visual function was preserved if the fovea appeared normal on funduscopic examination and was uninvolved by lacunae. The size of the largest chorioretinal lacuna also correlated significantly with clinical outcome: patients with large lacunae were more likely to be immobile and to have no language skills. CONCLUSION: It was concluded that good visual function in patients with Aicardi syndrome may be anticipated if the fovea is normal. Although many patients have severe psychomotor retardation, the presence of predominantly small chorioretinal lacunae may indicate a better prognosis for mobility and language development. Images PMID:8942377

  15. 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

  16. [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

  17. 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.

  18. Successful treatment of dark-colored epidermal nevus with ruby laser.

    PubMed

    Baba, T; Narumi, H; Hanada, K; Hashimoto, I

    1995-08-01

    The pulsed ruby laser has a selective thermolytic effect. Recently, it has been available for the treatment of superficial pigmented disorders. We studied 5 cases of epidermal nevus treated with the pulsed ruby laser. In comparison with the usual methods including electrocautery, cryotherapy and skin abrasion, ruby laser therapy is an excellent tool due to technological ease and rapid improvement. Depigmentation after treatment in 2 cases was the only side effect of this therapy. Bose cases had a dark pigmentation of the skin. Despite of the risk of discoloration, the ruby laser is one of the most effective tools for therapy of pigmented epidermal nevus.

  19. Guillain-Barré syndrome: clinical profile and management.

    PubMed

    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

    Einführung: Das Guillain-Barré-Syndrom (GBS) ist eine fulminant verlaufende Polyradiculoneuropathie, die akut, meist schwer verlaufend, auf der Basis eines Autoimmunprozesses auftritt. Die Ätiologie der Erkrankung wird nicht ganz verstanden, die Prognose ist bei früher Diagnose und Therapie gewöhnlich gut. Eine retrospektive Studie wurde durchgeführt, um das klinische Profil, die Epidemiologie, die Laborwerte, die Elektrodiagnose, die Behandlungsarten und die Prognose von Patienten mit GBS auszuwerten.Methode: Die klinischen Daten von 1.166 Patienten, die zwischen Januar 2003 und Januar 2014 mit GBS überwiesen oder in den Ambulanzen vorgestellt wurden, wurden ausgewertet. Ergebnisse: Geschlechtsspezifische Unterschiede wurden nicht beobachtet. Etwa 35% der Patienten waren älter als 50 Jahre. Die Analyse zeigte schlecht eingestellten Diabetes mellitus (HBA1c = 8,1 ± 2,11%). Die saisonale Abhängigkeit der GBS ist deutlich, im Winter wurden 484 (41,5%) gefunden und 449 (38,5%) Patienten mit GBS wurden künstlich beatmet. 48 (4,11%) der Patienten verstarben an GBS. Die neurologischen Untersuchungen ergaben bei 407 (34,9%) der Patienten Beteiligung der cranialen Nerven, faciale Lähmungen bei 401 (34,39%) und Ataxien bei 88 (7,54%) der Patienten. Die meisten Patienten, die mit Plasmapherese behandelt wurden, hatten einen niedrigeren sozioökonomischen Status. Die mittlere Proteinkonzentration im Liquor war 113,8 ± 11,8 mg/dl. Störungen der Nervenleitung, indirekt bestimmt über den H-Reflex, wurden bei 891 (90,64%) der Patienten beobachtet. Keine Unterschiede hinsichtlich Komplikationen und Endergebnis wurden festgestellt zwischen den Behandlungen mit intravenöser Gabe von Immunglobulinen und Plasmaaustausch.Schlussfolgerung: GBS tritt vorwiegend in den Wintermonaten auf, der „Peak-Flow-Test“ kann ein Indikator für eine erforderliche künstliche Beatmung und für die Prognose sein. Eine Verminderung oder Blockierung der Nervenleitung ist die

  20. Chikungunya fever: epidemiology, clinical syndrome, pathogenesis and therapy.

    PubMed

    Thiberville, Simon-Djamel; Moyen, Nanikaly; Dupuis-Maguiraga, Laurence; Nougairede, Antoine; Gould, Ernest A; Roques, Pierre; de Lamballerie, Xavier

    2013-09-01

    Chikungunya virus (CHIKV) is the aetiological agent of the mosquito-borne disease chikungunya fever, a debilitating arthritic disease that, during the past 7years, has caused immeasurable morbidity and some mortality in humans, including newborn babies, following its emergence and dispersal out of Africa to the Indian Ocean islands and Asia. Since the first reports of its existence in Africa in the 1950s, more than 1500 scientific publications on the different aspects of the disease and its causative agent have been produced. Analysis of these publications shows that, following a number of studies in the 1960s and 1970s, and in the absence of autochthonous cases in developed countries, the interest of the scientific community remained low. However, in 2005 chikungunya fever unexpectedly re-emerged in the form of devastating epidemics in and around the Indian Ocean. These outbreaks were associated with mutations in the viral genome that facilitated the replication of the virus in Aedes albopictus mosquitoes. Since then, nearly 1000 publications on chikungunya fever have been referenced in the PubMed database. This article provides a comprehensive review of chikungunya fever and CHIKV, including clinical data, epidemiological reports, therapeutic aspects and data relating to animal models for in vivo laboratory studies. It includes Supplementary Tables of all WHO outbreak bulletins, ProMED Mail alerts, viral sequences available on GenBank, and PubMed reports of clinical cases and seroprevalence studies.