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Vendramini-Pittoli Siulan - - 2009
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant inheritance have been reported. In this study, we ...
Marzano Angelo V - - 2009
Syringoma is a benign neoplasm of eccrine origin. Clinically, it manifests as small skin-colored to yellowish soft papules usually localized around the eyes and on the upper cheeks of middle-aged women. Familial cases have rarely been reported and may be inherited as an autosomal dominant trait or result from either ...
Rosman N Paul - - 2009
Benign paroxysmal torticollis is an under-recognized cause of torticollis of early infancy. The attacks usually last for less than 1 week, recur from every few days to every few months, improve by age 2 years, and end by age 3. There very frequently is a family history of migraine. We ...
Barzegari Massoumeh
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis, presenting in infancy or early childhood with areas of hyperpigmentation on dorsa of hands and feet. DSH has been reported mainly from Japan and only limited cases have been reported from other countries. This is the first report of an ...
Ishibashi Kenichi - - 2009
Thirteen members of mammalian aquaporins have been identified. Initial ten members (AQP-AQP9) are relatively well detailed and their roles are clarified. However, the last three members, AQP10-AQP12, are poorly characterized and little is known about their roles though they were cloned 6 years ago. In this review, we focus on ...
Omoaregba Joyce O - - 2009
The risk of developing schizophrenia is higher among persons with an affected sibling compared to the general population. Beliefs about aetiology influence presentation, management and treatment outcomes. There are no reports on multiple occurrences of this disorder in a family in this part of the world. In this case series ...
Dzika Ewa - - 2009
This paper lists 127 monogenean species belonging to 2 subclasses, 3 orders, 6 families and 13 genera reported from Polish freshwater and marine fishes. This checklist provides information also on the hosts, distribution in Poland and respective literature sources.
Liozon E - - 2009
OBJECTIVE: To review personal and published observations of giant cell (temporal) arteritis (GCA) or polymyal-gia rheumatica (PMR) with familial or conjugal aggregation and emphasise on epidemiological, clinical and genetic features of such cases. METHODS: We pooled data obtained from all cases of GCA or PMR with familial aggregation recruited in ...
Spielman A I - - 2009
The case of the Boy with the Golden Tooth, a "miracle" in a remote village in Silesia, in what is today southwestern Poland, was reported extensively in 1593. Here we report that the hoax, perpetrated by someone close to the family and with knowledge of goldsmith techniques, is the first ...
Hemmati Iman - - 2009
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis that prominently occurs among Japanese and Korean individuals. Dyschromatosis symmetrica hereditaria presents with a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal aspects of the extremities. We report a case of a 4-year-old girl with ...
Paisley Robert D - - 2009
We evaluated a 47-year-old woman for recurrent migraine and syncope. The patient had 7 children (not examined by the authors), all of whom also experienced migraine and syncope. The patient's father, now deceased, had reportedly experienced migraine and episodes of feeling faint. All 5 of the patient's siblings reported migraine, ...
Moammar Hissa - - 2009
The diagnosis of unsuspected foreign body ingestion is a common problem in children. We describe a toddler who presented with persistent vomiting and dehydration. A plain radiograph of the abdomen did not reveal a foreign body. However, abdominal ultrasonography promptly identified a funnel-shaped foreign body obstructing the gastric outlet. This ...
Corbett James J - - 2008
BACKGROUND: Case reports of familial idiopathic intracranial hypertension (IIH) have appeared sporadically and infrequently. METHODS: We reviewed the medical records of all patients with IIH seen at our institution to identify the number of familial cases. RESULTS: Out of a cohort of 237 patients with IIH, we identified 27 members ...
Tabak F - - 2008
Brucellosis is an endemic disease in Turkey. Simultaneous infections among family members consuming infected dairy products have been reported. The most frequent signs and symptoms are nonspecific, and most human cases remain unrecognized. We aimed to screen family members of index cases with brucellosis. A questionnaire including demographical and epidemiological ...
Bhandari Sudhir - - 2008
Dentinogenesis imperfecta (DGI) is one of the most common hereditary disorders of dentin formation. It follows an autosomal dominant pattern of transmission, affecting both the formation and mineralization of dentin. Either or both primary and permanent dentition is affected by it. This paper briefly reviews the manifestations of DGI Type ...
Patil K - - 2008
White spongy nevus (WSN) is a rare hereditary dyskeratotic hyperplasia of the mucous membranes. It is an autosomal dominant disorder with variable penetrance. A few cases of WSN occur due to de novo mutations. We report a case of WSN in a 12-year-old female child, with none of her family ...
Ristić Dragana Ignjatović - - 2008
Male genital self-mutilation is an infrequently reported event in the general medical literature. The majority of cases deal with a single episode of self-mutilation. These cases are usually focused on surgical repair. We present an extremely rare situation of two cases of male genital self-mutilation occurring in the same family. ...
Sartori Stefano - - 2008
Benign familial nocturnal alternating hemiplegia of childhood (BNAHC) is a rare disorder characterized by recurrent attacks of hemiplegia, arising from sleep without progression to neurological or intellectual impairment. It is distinct from the malignant, relatively more common, alternating hemiplegia of childhood (AHC), complicated by developmental deterioration, cognitive impairment, and permanent ...
O'Leary Edmund - - 2008
The eighth family with multiple cases of congenital pseudarthrosis of the clavicle is described. This usually presents as a clavicular lump and is distinct from more common conditions such as birth fractures, craniocleidal dysostosis and neurofibromatosis. There has so far been no clear indication on whether familial pseudarthrosis of the ...
Morrison A W - - 2009
BACKGROUND AND PURPOSE: Ménière's disease is not uncommon, with an incidence in Caucasians of about one in 2000. The incidence peaks in the fifth decade. Cases are usually isolated or sporadic, but in perhaps five per cent other family members are affected. We report here the clinical and genetic characteristics ...
Vijan Sandeep S - - 2008
OBJECTIVE: To report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II). METHODS: The pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed. RESULTS: In ...
Saito Y A - - 2008
Irritable bowel syndrome (IBS) runs in families. Prior family studies surveyed patients inquiring about family history without surveying family members. The stigma associated with IBS may lead relatives to not share information with others,resulting in underestimates of familial aggregation of IBS. The aim of the study was to evaluate the ...
Kumar Gogi - - 2009
We report a case of familial hemiplegic migraine with prolonged aura where multimodality imaging showed hemispheric cytotoxic edema along with evidence of hypometabolism in the affected hemisphere while there was no evidence of hypoperfusion of the affected hemisphere demonstrating that neuronal depression is a more plausible explanation in its pathogenesis.
Hatoum Hilana A - - 2008
Hemiplegic migraine is a rare form of migraine variant. It is characterized by recurrent attacks of headache associated with temporary neurological deficit, usually unilateral hemiparesis or hemiplegia. It can be difficult to distinguish from migrainous stroke clinically, and a full neurological work-up and careful review of medical history and symptoms ...
Thomas C L - - 2008
Porphyria cutanea tarda (PCT), the most common of the porphyrias, is a mainly acquired disease of the liver, which manifests with bullous skin lesions. However, up to 20% of patients with PCT, usually those with chronic untreated disease, are reported to develop some sclerodermatous changes that may affect both light-exposed ...
Kadlub Natacha - - 2008
Lambdoid craniosynostosis is an uncommon condition, with an incidence of 1 per 33,000 live births. Its etiopathology remains controversial. Although many forms of syndromic and nonsyndromic craniosynostosis demonstrate an inherited pattern, few articles have reported lambdoid craniosynostosis in the same family. In this article, we report lambdoid synostosis in a ...
Kropp, Roy K
The coral gall crabs, Family Cryptochiridae, occurring in the Pacific Ocean are reviewed. Fifteen genera, including four new genera, are recognized: Cryptochirus Heller; Dacryomaia, new genus; Fizesereneia Takeda & Tamura; Fungicola Serene; Hapalocarcinus Stimpson; Hiroia Takeda & Tamura; Lithoscaptus Milne Edwards; Neotroglocarcinus Takeda & Tamura; Opecarcinus Kropp & Manning; Pelycomaia, ...
Sari Ayça - - 2008
We report 3 siblings from a nonconsanguineous white family with bilateral persistent pupillary membranes with dissimilar forms of severity. Two of the patients required no treatment; 1 was treated surgically for occlusion of the pupillary axis and moderate visual acuity decrease. Anterior segment examination was otherwise normal in the siblings. ...
Kabashima Kenji - - 2008
"Nagashima-type" keratosis is characterized by transgressive and nonprogressive palmoplantar keratoderma (PPK) with an autosomal recessive trait. Because its clinical manifestations are similar to but milder than those of mal de Meleda, it was originally described as a mild form of Meleda-type PPK. Since then, about 20 cases have been reported ...
Abdel-Aleem Alice - - 2008
We describe an Egyptian family having SCA2 affecting three generations with marked molecular and clinical anticipation observed in the index case. Our proband was a male child starting as early as 2 years old with progressive extrapyramidal manifestations, slow eye movements and cognitive impairment. A history of nonspecific mild developmental ...
McGoey Robin R - - 2008
Adams-Oliver syndrome (AOS) is a well-known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of ...
Chiò A - - 2008
BACKGROUND: Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases. However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts. OBJECTIVE: To assess the frequency and nature ...
Tan Uner - - 2008
The aim of this study was to describe additional patients (n= 3) exhibiting the Unertan syndrome (UTS), resident in rural areas of Canakkale. The 8th and 9th families with the UTS, with a total of 16 members affected, have not been previously characterized. A single, non-familial case (Bayramic, Canakkale) occurred ...
Jenkins David A - - 2008
Twenty fruit species representing 12 families were collected from various regions in western Puerto Rico and monitored for the emergence of Anastrepha spp. pupae. We collected 14,154 tephritid pupae from 16 fruit species representing 10 families. The relative infestations of these fruits (pupae per kilogram of fruit) were recorded. Recorded ...
Vu Thien-Tuong-Vi - - 2008
To describe genetic susceptibility in the first familial clustering of parotid gland lymphoepithelioma reported in North America. Retrospective study. Tertiary care institution with outreach to northern Quebec. Chart, family history, literature review, and c-kit assay. C-kit assay. Four family members of both sexes over two generations had lymphoepithelioma of the ...
Douna Varvara - - 2008
Hb Adana is a highly unstable and rare alpha-globin hemoglobin (Hb) variant, to date described in only three families, in interaction with other alpha-thalassemia (alpha-thal) deletions. We describe the clinical and hematological findings in two cases from independent families of Albanian origin, who have an interaction of the codon 59 ...
Burgess Ann Wolbert - - 2008
An exploratory study of 284 cases of alleged elder sexual abuse revealed fairly equal numbers of reports to the criminal justice system (CJS) and to Adult Protective Services (APS). Comparison of these two routes of reporting indicated the following: Suspected victims reported to APS were more likely to reside in ...
Sisson James C - - 2008
Hyperparathyroidism and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC), and pheochromocytomas compose the hallmarks of the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. Revisiting a report in 1939 of a patient with hyperparathyroidism and parathyroid hyperplasia led to a search for evidence of MEN 2A. From medical records and discussion ...
Tremolizzo L - - 2007
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently ...
Padovani Davide - - 2007
OBJECTIVE: We review two cases of non tuberculous mycobacteria infections of the parotid region in members of the same family. The parotid region represents a peculiar location for the disease and it is exceptional to discover cases in members of the same family. METHODS: Two unusual case reports of non ...
Dodd-McCue Diane - - 2007
BACKGROUND: Previous research has examined the differences in organ donation consent rates between African Americans and other racial/ethnic groups. However, there is limited examination of whether differences exist between African American families that consent and those that do not. OBJECTIVE: To examine if there are significant differences between African American ...
Zhu-Tam Lily Y - - 2007
BACKGROUND: Duane's retraction syndrome (DRS) is a congenital oculomotor anomaly that is accompany by globe retraction with simultaneous narrowing of the palpebral fissure on attempted adduction. Hereditary factors have been postulated to be associated with the development of DRS since 1879. However, the modern literature fails to provide substantial scientific ...
Lall Anupam - - 2007
We present the case of an 11-year-old girl with hereditary hemorrhagic telangiectasia who presented with recurrent macroscopic hematuria secondary to bladder vascular abnormalities. This case illustrates the importance of taking a detailed clinical and family history and cystoscopic examination at the time of active hematuria in cases where recurrent hematuria ...
Dodson Kelley M - - 2007
Delayed endolymphatic hydrops (DEH) is a unique disorder characterized by fluctuating otologic symptoms in the setting of preexisting unilateral deafness. The symptoms include aural fullness, fluctuating hearing, and/or episodes of vertigo similar to those observed in Meniere disease and may occur ipsilateral or contralateral to the previously deafened ear. In ...
Dabir Tabib - - 2007
Primary hypertrophic osteoarthropathy is a condition characterized by clubbing, arthropathy and periostosis of long tubular bones. Three variants of primary hypertrophic osteoarthropathy are distinguished: pachydermoperiostosis, which shows as additional symptom pachydermia; cranio-osteoarthropathy, which has a decreased neurocranium ossification as additional feature; and a secondary form. Primary hypertrophic osteoarthropathy is also ...
Papadogiannakis E - - 2007
The aim of this report is to present a case of severe skin ulceration and cellulitis in a seven year old mongrel dog following cystitis. The Providencia stuartii strain was the only isolate from skin lesions. This bacterium is a Gram-negative rod belonging to the family of Enterobacteriaceae. To the ...
Gopal M - - 2007
Sacrococcygeal teratoma (SCT) can be sporadic or familial and there appear to be different characteristics to these entities. It can be an isolated anomaly or occur as part of the Currarino triad, when it is associated with anorectal malformations and sacral anomalies. We present a case of familial sacrococcygeal teratoma ...
Koch A D - - 2007
Diverticulosis of the jejunum is a rare finding (0.06 to 1.3%). Possible complications are bacterial overgrowth, malabsorption, bleeding, mechanical obstruction, volvulus and perforation. At present only one case report on familial jejunal diverticulosis has been published. We describe three patients with jejunal diverticulosis within one family, which might suggest inheritance.
Raptis Lampros - - 2007
The authors describe 3 histologically confirmed cases of temporal arteritis occurring in three siblings aged 62-72 years old, diagnosed from 1999 to 2005. Chapel Hill publication surrogate parameters combined with the American College of Rheumatology criteria for vasculitis were used in the diagnostic procedure. The diagnosis of temporal vasculitis was ...
Zein Emile F - - 2007
INTRODUCTION: Subacute thyroiditis (SAT) is a spontaneously remitting inflammatory disorder of the thyroid that is presumed to be virally induced in genetically predisposed individuals. A strong association has been suggested between human leukocyte antigen (HLA)-B35 and patients who developed SAT. However, familial occurrence of SAT associated with HLA-B35 is reported ...
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