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Crighton Gemma - - 2011
Pneumocystis jiroveci pneumonia is rare in immunocompetent children. Severe folate deficiency affects T cell function, potentially increasing susceptibility to opportunistic pathogens. We report the case of an 11-month-old child who developed P. jiroveci pneumonia in the setting of severe nutritional folate deficiency and review the literature regarding the influence of ...
Wiser Sarah H - - 2011
Aberrant tracheobronchial anatomy is reported at an incidence of approximately 10% and most frequently involves the segmental and subsegmental bronchi. The most relevant abnormality to the practice of anesthesiology is the presence of a tracheal bronchus. Although typically an asymptomatic finding during bronchoscopy, a tracheal bronchus has important implications for ...
Barlas Stephen - - 2011
The good, the bad, and the ugly about the FDA/CMS parallel review process. Can it work?
Mantzoukis Konstantinos K Gastroenterology Division (Konstantinos Mantzoukis, Ioannis Kouvelis, Athina Theocharidou, Georgios - - 2011
We present a case report regarding a 74-year-old male with iatrogenic esophageal perforation, after an attempt to remove a food bolus impaction at Lannier's triangle (proximal esophagus). The perforation was treated endoscopically (flexible EGD) by clip application in two sessions, with excellent outcome. Esophageal perforations occur rarely, usually following a ...
Xu David S - - 2010
Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a ...
Nezhat Camran - - 2010
Mature cystic teratomas (MCTs) are some of the most common ovarian neoplasms in women of reproductive age. However, familial teratomas are exceedingly rare. We present 4 cases of dermoid cysts seen in a mother and her 3 daughters with left MCTs. None of the patients had symptoms at the time ...
Jonson-Reid Melissa - - 2010
Although a strong literature on child maltreatment re-reporting exists, much of that literature stops at the first re-report. The literature on chronic re-reporting, meaning reports beyond the second report, is scant. The authors follow Loman’s lead in focusing on reports beyond the first two to determine what factors predict these ...
Chouinard V A VA Department of General Internal Medicine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, - - 2010
We report the case of a 46-year-old woman who noticed a swelling of the left supraclavicular fossa of rapid onset soon after a Mycoplasma Pneumoniae upper respiratory infection. On the basis of clinical history, physical examination and imaging findings, a diagnosis of chyloma due to intense non-productive coughing bouts was ...
So Chi-Chiu - - 2010
Haemoglobin (Hb) Bonn is a newly described benign Hb variant that causes falsely depressed oxygen saturation as measured by pulse oximetry. It was found to be associated with mild haemolysis. Since its first report in a German family, no further cases have been documented in the literature. We report the ...
Yarkın Tülay - - 2010
We report a case of 25-year-old woman with severe tracheobronchial necrosis caused by chlorine released from a mixture household cleaning agents. She subsequently exposed benzene while she was fixing the seats with benzene containing gum. The case was found interesting with its history, delayed diagnosis, bronchoscopic features, and fatal outcome. ...
Kohl Michael - - 2010
Familial forms of gastroschisis are considered rare. A search for these forms in a population-based birth registry in 1993 found a recurrence risk of 3.5% among first-degree relatives. Since then, similar investigations in population-based registries have led to contradictory results. A search of the population-based birth registry "Mainz Model" for ...
Svanberg Emma - - 2011
ABSTRACTBackground: The needs of younger people with dementia have become increasingly recognized in service development. However, little is known about the impact of a diagnosis of young onset dementia on people aged under 65 years and their families. This paper reviews the literature on the experiences of younger people with ...
Warburg M R - - 2010
The female scorpion ovariuterus was examined in 10 scorpion species belonging to five families: Buthidae, Vaejovidae, Scorpionidae, Urodacidae, and Diplocentridae. Two main patterns of development are known in scorpions: (1) The apoikogenic type with an ovariuterus containing yolk-rich eggs housed in follicles. This type is found in many scorpion taxa ...
Castori Marco - - 2010
Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis ...
Burger Bettina - - 2011
In the digital age, personal identification by fingerprints (epidermal ridges) has become more frequent and is often required for biometric passports. The more fingerprints are analyzed, the more variants in their formation are documented. Individuals completely missing fingerprints as an isolated finding are extremely rare. Only 4 kindreds have been ...
Vasher Marie - - 2010
Pityriasis rubra pilaris (PRP) is an uncommon dermatosis of unknown etiology. The familial subtype is rare and usually presents as type V PRP. It is generally inherited in an autosomal dominant fashion with variable expression. Other forms of inheritance, such as autosomal recessive and X-linked, have also been reported. The ...
Subramanian Murali - - 2010
Rituximab is a chimeric anti-CD20 monoclonal antibody used to treat CD20+ non-Hodgkin's lymphoma (NHL). Some pulmonary adverse reactions such as cough, rhinitis, bronchospasm and dyspnea are relatively common. Severe respiratory conditions like cryptogenic organizing pneumonia, interstitial pneumonitis have rarely been reported. We present a case of interstitial pneumonitis in a ...
O'Beirne Maeve - - 2010
To determine the required components for developing the reporting components of a safety learning system (SLS) for community-based family practice. Multiple databases were searched for all languages for all types of papers related to medical safety in community practice: Books@Ovid, BIOSIS Previews, CDSR, ACP Journal Club, DARE, CCTR, Ageline, AMED, ...
Holme Harriet - - 2010
We report the case of a 13-year-old male who presented with headaches and was presumed to have a brain tumour. He was subsequently found to have multiple cerebral cavernomas with haemorrhage and positive family history. We review the literature on familial cavernomas. Cerebral cavernous malformations (CCMs) are characterized by abnormally ...
Majetich George - - 2010
A comprehensive overview of the taiwaniaquinoid family of natural products is presented. A summary of the isolation, biosynthesis, and biological activity of these compounds is followed by a discussion of various synthetic strategies to the skeletal framework and a detailed discussion of 12 published syntheses of members of this family. ...
Haddad Vidal V - - 2010
We report 7 cases of patients bitten by giant water bugs, large predatory insects belonging to the Belostomatidae family (Hemiptera, Heteroptera). These insects have toxic saliva capable of provoking intense pain and paralysis in vertebrates. Victims experienced intense, excruciating pain and 1 manifested hypoesthesia in the forearm. Bites by Belostomatidae ...
Lal Jawahar - - 2010
This article provides a brief review of the information available regarding the published pharmacokinetics data for the nonsteroidal, once-a-week oral contraceptive, centchroman (INN: ormeloxifene). This agent is a unique need-oriented contraceptive agent which is included in the National Family Welfare Programme of India. Since 1991, centchroman has been used as ...
Gupta Siddharth - - 2010
The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as ...
Liu Sheng-fa - - 2010
In the literature, 630 species of Digenea (Trematoda) have been reported from Chinese marine fishes. These belong to 209 genera and 35 families. The names of these species, along with their hosts, geographical distribution and records, are listed in this paper.
Boorghani Marzieh - - 2010
Lichen planus is a chronic inflammatory mucocutaneous disease. Mucosal lesions are classified into six clinical forms and there is malignant potential for two forms of OLP; therefore, follow-up should be considered. There are many un-established etiological factors for OLP and some different treatment modalities are based on etiology. The aims ...
Cardentey-Reyes A - - 2009
Moellerella wisconsensis, a member of the Enterobacteriaceae family, is rarely isolated in clinical specimens. We report here a case of M. wisconsensis infection in a 46-year-old cirrhotic patient with acute cholecystitis. This is the first reported case of a M. wisconsensis infection in Belgium and the first reported case of ...
Selden Paul A - - 2010
Over the last three decades, the fossil record of spiders has increased from being previously biased towards Tertiary ambers and a few dubious earlier records, to one which reveals a much greater diversity in the Mesozoic, with many of the modern families present in that era, and with clearer evidence ...
Weis Mark - - 2009
Hereditary angioedema (HAE) is caused by a deficiency in C1 esterase inhibitor and is characterized by sudden attacks of edema associated with discomfort and pain. The disease places patients at risk for disability and death if left untreated. Symptom severity and frequency can be extremely variable even among affected members ...
Ahmed Syed Ather - - 2010
Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of ...
Yaqub Abid - - 2009
OBJECTIVE: To describe case reports of a brother and sister pair with Hurthle cell carcinoma of thyroid. METHODS: The clinical presentation, diagnostic workup, treatment and clinical course of HCC is described for both patients. Relevant family history is discussed. This is followed by a review of literature regarding genetic basis ...
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 ...
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