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Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability. Due to the difficulties in the clinical approach to a TGFBR-related disease, among patients with vascular involvement, with or without aortic root dilatation and LDS cardinal features, genotyping is mandatory to clarify the diagnosis, and to assess the management, prognosis, and counselling issues. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 2, 2009 Category: Internal Medicine Authors: Bruno DreraMarco RitelliNicoletta ZoppiAnita WischmeijerMaria GnoliRossella FattoriPier Giacomo Calzavara-PintonSergio BarlatiMarina Colombi Source Type: journals

Familial adenomatous polyposisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, manifests equally in both sexes, and accounts for less than 1% colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or d...
Source: Orphanet Journal of Rare Diseases - October 11, 2009 Category: Internal Medicine Authors: Elizabeth HalfDani BercovichPaul Rozen Source Type: journals

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoringEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: : In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impact for Fabry disease.Method: A Pubmed analysis was performed using the search terms "Fabry disease", "Anderson-Fabry disease", "alpha-galactosidase A" and "Gb3". Of the given publications by 31st January 2009 only original article...
Source: Orphanet Journal of Rare Diseases - October 10, 2009 Category: Internal Medicine Authors: Bjorn Hoffmann Source Type: journals

Erythropoietic protoporphyriaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000. It usually manifests in early infancy upon the first sun exposures. EPP is characterised by cutaneous manifestations of acute painful photosensitivity with erythema and oedema, sometimes with petechiae, together with stinging and burning sensations upon exposure to sunlight, without blisters. These episodes have a variable severity depending on the ex...
Source: Orphanet Journal of Rare Diseases - September 9, 2009 Category: Internal Medicine Authors: Mario LechaHerve PuyJean-Charles Deybach Source Type: journals

Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology. Review of the literature.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, radiological findings can play a major role in the diagnosis of pulmonary Kaposi sarcoma since characteristic patterns may be observed. The presence of these patterns in patients with AIDS is highly suggestive of Kaposi sarcoma. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 13, 2009 Category: Internal Medicine Authors: Taisa GasparettoEdson MarchioriSilvia LourencoGlaucia ZanettiAlberto ViannaAlair SantosLuiz Felipe Nobre Source Type: journals

Neurofibromatosis type 2 (NF2): A clinical and molecular reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage...
Source: Orphanet Journal of Rare Diseases - June 18, 2009 Category: Internal Medicine Authors: D Gareth Evans Source Type: journals

Triptans and troponin: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This case report describes for the first time acute coronary syndrome in a 67-year old patient after oral intake of naratriptan for migraine. So far in the literature, only sumatriptan, zolmitriptan and frovatriptan have been described to cause acute coronary syndromes.A 67-year old Swiss woman with thoracic pain after intake of 2.5mg naratriptan presented with T-wave inversions in the ECG and a positive troponin-T at our hospital. Coronary angiography showed normal coronary arteries. Naratriptan-induced coronary vasospasms were thought to have caused the acute coronary syndrome.Triptans should not be prescribed in patient...
Source: Orphanet Journal of Rare Diseases - June 17, 2009 Category: Internal Medicine Authors: Claudia WederMarkus Schneemann Source Type: journals

Cardiac magnetic resonance imaging in Alstrom syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Adult Alstrom cardiomyopathy appears to be a fibrotic process causing impairment of both ventricles. Serial cardiac magnetic resonance scanning has helped clarify the underlying disease progression and responses to treatment. Confirmation of significant mutations in the ALMS1 gene should lead to advice to screen the subject for cardiomyopathy, and metabolic disorders. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 9, 2009 Category: Internal Medicine Authors: Margaret LoudonNicholas BellengerCatherine CareyRichard Paisey Source Type: journals

Multisegmental spondylitis due to Tropheryma whipplei: Case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a patient who presented with inflammatory back pain due to multisegmental spondylitis. Following a vertebral biopsy which failed to detect an infectious organism, the patient was treated with etanercept, a tumor necrosis factor (TNF)-alpha inhibitor, for suspected undifferentiated spondyloarthritis. The back pain worsened and the spondylitic lesions increased. Only in a vertebral rebiopsy with polymerase chain reaction (PCR) amplification of Tropheryma whipplei, the causative agent of Whipple's disease was identified. Tropheryma whipplei should be considered as a cause of spondylitis even with multisegmental invo...
Source: Orphanet Journal of Rare Diseases - June 3, 2009 Category: Internal Medicine Authors: David SpoerlDiego BarJulian CooperThomas VogtAlan TyndallUlrich Walker Source Type: journals

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 15, 2009 Category: Internal Medicine Authors: Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil and Maurizio Luisetti Source Type: journals

Alpha1- antitrypsin deficiency variants in Tunisian subjects with obstructive lung disease: a feasibility reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 15, 2009 Category: Internal Medicine Authors: Sabri Denden, Michele Zorzetto, Fethi Amrii, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Laria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil and Maurizio Luisetti Source Type: journals

Sheldon-Hall syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS include prominent nasolabial folds, high arched palate, attached earlobes, mild cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus. Typically, the contractures are most severe at birth an...
Source: Orphanet Journal of Rare Diseases - March 23, 2009 Category: Internal Medicine Authors: Reha M Toydemir and Michael J Bamshad Source Type: journals

Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiencyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: This report demonstrates that early treatment with NPPV prolongs survival and reduces decline of FVC% in ALS. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 10, 2009 Category: Internal Medicine Authors: Pierluigi Carratu, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria and Onofrio Resta Source Type: journals

Jacobsen syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pa...
Source: Orphanet Journal of Rare Diseases - March 7, 2009 Category: Internal Medicine Authors: Teresa Mattina, Concetta S Perrotta and Paul D Grossfeld Source Type: journals

Pulmonary hemorrhage syndrome associated with dengue fever. High-resolution computed tomography findings: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We described the high-resolution CT findings in a 70-year-old male with the disease, which was diagnosed by clinical examination and confirmed by serological methods. High-resolution CT demonstrated bilateral areas of consolidation with air bronchogram and ground glass opacities, as well as small bilateral pleural effusions. Dengue hemorrhagic fever should be considered in the differential diagnosis of diffuse pulmonary hemorrhage. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 5, 2009 Category: Internal Medicine Authors: Edson Marchiori, Jose Luiz N Ferreira, Carolina N Bittencourt, Cesar A Araujo, Glaucia Zanetti, Claudia M Mano, Alair ASD Santos and Alberto D Vianna Source Type: journals

Corneal dystrophiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities. Some affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma (anterior corneal dystrophies), the corneal stroma (stromal corneal dystrophies), or Descemet membrane and the corneal en...
Source: Orphanet Journal of Rare Diseases - February 23, 2009 Category: Internal Medicine Authors: Gordon K Klintworth Source Type: journals

Orodental phenotype and genotype findings in all subtypes of hypophosphatasiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This work allowed us to compare orodental manifestations in all the clinical forms of HP within the patient's sample. According to the severity of the disorder, some dental defects were infrequent, while other were always present. The long term prognosis of the permanent teeth varies from a patient to another. As premature loss of primary teeth is often the first, and sometimes the only visible symptom of the milder forms, the paediatric dentist plays a critical role in the detection and diagnosis of the disease. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 21, 2009 Category: Internal Medicine Authors: Amelie Reibel, Marie-Cecile Maniere, Francois Clauss, Dominique Droz, Yves Alembik, Etienne Mornet and Agnes Bloch-Zupan Source Type: journals

OsteopetrosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental findi...
Source: Orphanet Journal of Rare Diseases - February 20, 2009 Category: Internal Medicine Authors: Zornitza Stark and Ravi Savarirayan Source Type: journals

Amyotrophic lateral sclerosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present ...
Source: Orphanet Journal of Rare Diseases - February 3, 2009 Category: Internal Medicine Authors: Lokesh C. Wijesekera and P. Nigel Leigh Source Type: journals

Progressive familial intrahepatic cholestasisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, prur...
Source: Orphanet Journal of Rare Diseases - January 8, 2009 Category: Internal Medicine Authors: Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan and Emmanuel Jacquemin Source Type: journals

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5...
Source: Orphanet Journal of Rare Diseases - November 25, 2008 Category: Internal Medicine Authors: Lorenzo Lo Muzio Source Type: journals

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescen...
Source: Orphanet Journal of Rare Diseases - November 19, 2008 Category: Internal Medicine Authors: Agatino Battaglia Source Type: journals

Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The most distinctive feature of the asbestos-exposed RPF patients was a thick DPT. An asbestos-related pleural finding was common in the asbestos-exposed RPF patients, but only a few of these patients had parenchymal lung fibrosis. RPF without asbestos exposure was not associated with pleural or lung fibrosis. The findings suggest a shared etiology for RPF and pleural fibrosis and furthermore possibly a similar pathogenetic mechanisms. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 13, 2008 Category: Internal Medicine Authors: Toomas Uibu, Ritva Jarvenpaa, Jari Hakomaki, Anssi Auvinen, Eero Honkanen, Kaj Metsarinne, Pekka Roto, Heikki Saha, Jukka Uitti and Panu Oksa Source Type: journals

Transposition of the great arteriesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance. The incidence is estimated at 1 in 3,500-5,000 live births, with a male-to-female ratio 1.5 to 3.2:1. In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD) and left ventricular outflow tract obstruction is frequent and dictates timing and clinical presentation, which consists of cyanosis with...
Source: Orphanet Journal of Rare Diseases - October 13, 2008 Category: Internal Medicine Authors: Paula Martins and Eduardo Castela Source Type: journals

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UKEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The birth prevalence of MPS I in England and Wales is 1.07/100,000 and the median survival for MPS I patients is 11.6 years. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 16, 2008 Category: Internal Medicine Authors: David Moore, Martin J Connock, Ed Wraith and Christine Lavery Source Type: journals

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The birth prevalence of MPS I in England and Wales is 1.07/100,000 and the median survival for MPS I patients is 11.6 years. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 16, 2008 Category: Internal Medicine Authors: David Moore, Martin J Connock, Ed Wraith and Christine Lavery Source Type: journals

Monitoring clinical quality in rare disease services - experience in EnglandEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
After some well-publicised problems with paediatric cardiac surgery, there has been great interest in England in monitoring clinical quality in specialised medical services. The National Commissioning Group plans, funds and monitors a set of highly specialised services for the National Health Service in England. We have developed systems for monitoring clinical quality that perform two interrelated but distinct functions: performance measurement and performance improvement. The aim is to collect information on all patients seen during each year - a 100% consecutive case series. Generally, there is no conceptual difficulty ...
Source: Orphanet Journal of Rare Diseases - September 15, 2008 Category: Internal Medicine Authors: Thomas D Kenny, Edmund G Jessop and William H Gutteridge Source Type: journals

Gitelman syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompa...
Source: Orphanet Journal of Rare Diseases - July 30, 2008 Category: Internal Medicine Authors: Nine V.A.M. Knoers and Elena N. Levtchenko Source Type: journals

Cluster headacheEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (lacrimation, nasal congestion, ptosis, miosis, lid edema, redness of the eye). It affects young adults, predominantly males. Prevalence is estimated at 0.5-1.0/1,000. CH has a circannual and circadian periodicity, attacks being clustered (hence the name) in bouts that can occur during specific months of the year. Alcohol is the only dietary trigger of CH, strong odors (mainly solvents and cigarette smoke) and napping may also trigger...
Source: Orphanet Journal of Rare Diseases - July 23, 2008 Category: Internal Medicine Authors: Elizabeth Leroux and Anne Ducros Source Type: journals

Abetalipoproteinemia: two case reports and literature reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe the clinical progress of two patients, both currently in the fifth decade of life, who were diagnosed with ABL as children and were treated with high oral doses of fat soluble vitamins, including vitamin E over the last three decades. Treatment appears to have been associated with arrest of the neuropathy and other complications in both patients. Because pharmacologic inhibition of MTP is being developed as a novel approach to reduce plasma cholesterol for prevention of cardiovascular disease, defining the long-term clinical features of patients with a natural deficiency in MTP might provide some insight into t...
Source: Orphanet Journal of Rare Diseases - July 8, 2008 Category: Internal Medicine Authors: Rola Zamel, Razi Khan, Rebecca L Pollex and Robert A Hegele Source Type: journals

Adaptive design methods in clinical trials – a reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In recent years, the use of adaptive design methods in clinical research and development based on accrued data has become very popular due to its flexibility and efficiency. Based on adaptations applied, adaptive designs can be classified into three categories: prospective, concurrent (ad hoc), and retrospective adaptive designs. An adaptive design allows modifications made to trial and/or statistical procedures of ongoing clinical trials. However, it is a concern that the actual patient population after the adaptations could deviate from the originally target patient population and consequently the overall type I error (t...
Source: Orphanet Journal of Rare Diseases - May 2, 2008 Category: Internal Medicine Authors: Shein-Chung Chow and Mark Chang Source Type: journals

Adaptive design methods in clinical trials - a reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In recent years, the use of adaptive design methods in clinical research and development based on accrued data has become very popular due to its flexibility and efficiency. Based on adaptations applied, adaptive designs can be classified into three categories: prospective, concurrent (ad hoc), and retrospective adaptive designs. An adaptive design allows modifications made to trial and/or statistical procedures of on-going clinical trials. However, it is a concern that the actual patient population after the adaptations could deviate from the originally target patient population and consequently the overall type I error r...
Source: Orphanet Journal of Rare Diseases - May 2, 2008 Category: Internal Medicine Authors: Shein-Chung Chow and Mark Chang Source Type: journals

The Greig cephalopolysyndactyly syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 tr...
Source: Orphanet Journal of Rare Diseases - April 24, 2008 Category: Internal Medicine Authors: Leslie G Biesecker Source Type: journals

Idiopathic pulmonary fibrosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(IPF) is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease which affects approximately 5 million persons worldwide. The prevalence is estimated to be slightly greater in men (20.2/100,000) than in women (13.2/100,000). The mean age at presentation is 66 years. IPF initially manifests with symptoms of exercise-induced breathless and dry coughing. Auscultation of the lungs reveals early inspiratory crackles, predominantly located in the lower posterior lung zones upon physical exam. Clubbing is found in app...
Source: Orphanet Journal of Rare Diseases - March 26, 2008 Category: Internal Medicine Authors: Eric B Meltzer and Paul W Noble Source Type: journals

Syndromic (phenotypic) diarrhea in early infancyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe ...
Source: Orphanet Journal of Rare Diseases - February 28, 2008 Category: Internal Medicine Authors: Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer and Jean-Pierre Cezard Source Type: journals

Primary intestinal lymphangiectasia (Waldmann's disease)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate...
Source: Orphanet Journal of Rare Diseases - February 22, 2008 Category: Internal Medicine Authors: Stephane Vignes and Jerome Bellanger Source Type: journals

Monosomy 18pEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate. A small subset of patients, about 10-15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders. In two-thirds of the...
Source: Orphanet Journal of Rare Diseases - February 19, 2008 Category: Internal Medicine Authors: Catherine Turleau Source Type: journals

Multiple osteochondromasEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1). Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. They are pedunculated or sessile (broad base) and can vary widely in size. The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15-18. The majority are asymptomatic and located in bones that develop from carti...
Source: Orphanet Journal of Rare Diseases - February 13, 2008 Category: Internal Medicine Authors: Judith V.M.G. Bovee Source Type: journals

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Even though the usual treatment which decreases toxic metabolites remains the standard, carglumic acid could be helpful in lowering plasma ammonia levels over 400 micromol/L more rapidly. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 30, 2008 Category: Internal Medicine Authors: Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cecile Acquaviva, Christine Vianey-Saban and Nathalie Guffon Source Type: journals

Primary biliary cirrhosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. Affected individuals are usually in their fifth to seventh decades of life at time of diagnosis, and 90% are women. Annual incidence is estimated between 0.7 and 49 cases per million population and prevalence between 6.7 and 940 cases per million population (depending on age and sex). The majority of patients are asymptomatic at diagnosis, however, some patients present with symptoms of fatigue and/or pruritus. Patients may even present...
Source: Orphanet Journal of Rare Diseases - January 23, 2008 Category: Internal Medicine Authors: Teru Kumagi and Jenny E Heathcote Source Type: journals

Alstrom syndrome (OMIM 203800): a case report and literature reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 21, 2007 Category: Internal Medicine Authors: Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A. Hegele and Paul N. Durrington Source Type: journals

Anophthalmia and microphthalmiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia / microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal dup...
Source: Orphanet Journal of Rare Diseases - November 26, 2007 Category: Internal Medicine Authors: Amit S Verma and David R FitzPatrick Source Type: journals

Myasthenia gravisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the post...
Source: Orphanet Journal of Rare Diseases - November 6, 2007 Category: Internal Medicine Authors: Vern C Juel and Janice M Massey Source Type: journals

Mowat-Wilson syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in parti...
Source: Orphanet Journal of Rare Diseases - October 24, 2007 Category: Internal Medicine Authors: Livia Garavelli and Paola Cerruti Mainardi Source Type: journals

Aorto-ventricular tunnelEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. The exact incidence is unknown, estimates ranging from 0.5% of fetal cardiac malformations to less than 0.1% of congenitally malformed hearts in clinico-pathological series. Approximately 130 cases have been reported in the literature, about twice as many cases in males as in females. Associated defects, usually involving the proximal coronary arteries, or the aortic or pulmonary valves, are present in nearly half the cases. Occasional patients present with ...
Source: Orphanet Journal of Rare Diseases - October 8, 2007 Category: Internal Medicine Authors: Roxane McKay Source Type: journals

Sotos syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anom...
Source: Orphanet Journal of Rare Diseases - September 7, 2007 Category: Internal Medicine Authors: Geneviève Baujat and Valérie Cormier-Daire Source Type: journals

Acute graft versus host diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. About 35%–50% of hematopoietic stem cell transplant (HSCT) recipients will develop acute GVHD. The exact risk is dependent on the stem cell source, age of the patient, conditioning, and GVHD prophylaxis used. Given the number of transplants performed, we can expect about 5500 patients/year to develop acute GVHD. Patients can have involvement...
Source: Orphanet Journal of Rare Diseases - September 4, 2007 Category: Internal Medicine Authors: David A Jacobsohn and Georgia B Vogelsang Source Type: journals

Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. Several hundreds cases of Sweet's syndrome have been published. Sweet's syndrome presents in three clinical settings: classical (or idiopathic), malignancy-associated, and drug-induced. Classical Sweet's syndrome (CSS) usually presents ...
Source: Orphanet Journal of Rare Diseases - July 26, 2007 Category: Internal Medicine Authors: Philip R Cohen Source Type: journals

Ehlers-Danlos syndrome type IVEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large an...
Source: Orphanet Journal of Rare Diseases - July 19, 2007 Category: Internal Medicine Authors: Dominique P Germain Source Type: journals