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Sample records for reported diseases family

  1. Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families

    Institute of Scientific and Technical Information of China (English)

    S Santhosh; GM Chandy; RV Shaji; CE Eapen; V Jayanthi; S Malathi; P Finny; N Thomas; M Chandy; G Kurian

    2008-01-01

    AIM: To study the genotype phenotype correlation inWilson's disease (WD) patients with in families.METHODS: We report four unrelated families from South India with nine members affected withWD. Phenotype was classified as per international consensus phenotypic classification of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced.RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family.Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identified.We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms orof detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levelswere also similar in affected members of each family.Minor differences in phenotype and baseline serumceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each familywith > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as adeterminant of WD phenotype. However, in one familywith compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype.

  2. [Hartnup disease (report of 2 cases in one family)].

    Science.gov (United States)

    Milovanović, D; Djukić, A; Stepanović, R; Peković, D; Vranjesević, D

    2000-01-01

    The Hartnup mutation affects the amino acid transport system of the intestine and kidney used by a large group of neutral amino acids (monoamino-monocarboxylic acids) resulting in a characteristic pattern of neutral aminoaciduria [2, 5, 6]. In this research clinical and neurological methods and a great number of laboratory tests were used. Patient 1. A 16-year-old girl, born in 1972, was a full-term newborn. Her psychomotor development was normal. She is the eldest of three children in the family. Till the age of 10 the girl was healthy, except for the mild skin disorders on uncovered parts of the body, face and hands, occurring in springtime almost every year. She had had two exacerbations of the disease. The first exacerbation lasted between the end of April and August 22, 1982. The second began in the middle of November 1987 and finished on May 31, 1988. A changeable and severe clinical feature in this girl was characterized by polymorphic, transient mainly cerebral symptoms, papilloedema with peripapillary haemorrhage and pellagra-like skin rash. At the beginning of the disease the left spastic haemiplegia with bilateral Babinski's reflex and diffuse brain oedema were observed. Signs of the upper motor neurone lesion and myoclonic jerks of limbs and face were most persistent during the first and second exacerbation of the disease. Dysinhibition phenomenon: mandibular, snout and palmomental reflexes were sometimes positive. Mental states at the time of hospitalization were changed and characterized by bradypsychic, torpid, disoriented in time and confused at the beginning of the disease. She had severe psychotic episodes during the second relapse of the disease. The symptoms and signs of the disease as well as pellagra-like skin rash resolved with nicotinamide therapy. Patient 2. A 38-year-old man; clinically healthy, with no skin lesions. A gross aminoaciduria was found in this case. However, the amino acids pattern was atypical. This new, rare disease was

  3. Sydenham's chorea in a family with Huntington's disease: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Rita Santos-Silva

    Full Text Available CONTEXT: Sydenham's chorea affects almost 30% of patients with acute rheumatic fever. It is more frequent in females and is rare in the first decade of life, and genetic vulnerability underlies it. Because of easy access to antibiotics, it is now rare in so-called developed countries. CASE REPORT: A 6-year-old boy with a family history of Huntington's disease, who was the only child of an unscreened and asymptomatic mother, was brought for a consultation because of migratory arthralgia, depressed mood, and rapid, abrupt and unintentional movements of his right arm and leg, that had evolved over a three-week period. On physical examination, he presented a grade III/VI systolic heart murmur and right-side choreic movements, giving rise to a deficit of active mobilization. Laboratory tests revealed elevated erythrocyte sedimentation rate (63 mm/h, C-reactive protein (25 mg/l and antistreptolysin O titer (1,824 U/ml. Cardiovascular evaluation showed mild aortic insufficiency, moderate mitral insufficiency and a prolonged PR interval. A clinical diagnosis of Sydenham's chorea/acute rheumatic fever was made, and therapy consisting of penicillin, haloperidol, captopril and furosemide was instituted, with excellent results. CONCLUSION: In developed countries, Sydenham's chorea seems forgotten and, because of this, little is known about its clinical course and controversy surrounds the therapeutic options available. This occurrence of rheumatic chorea in a family with Huntington's disease highlights the importance of the differential diagnosis for the different forms of chorea.

  4. Familial Mediterranean fever in which Crohn’s disease was suspected: a case report

    OpenAIRE

    Matsumoto, Satohiro; Urayoshi, Shunsuke; Yoshida, Yukio

    2014-01-01

    Background Familial Mediterranean fever is a hereditary autoinflammatory disease, mainly characterized by periodic fever and serositis. The level of awareness about familial Mediterranean fever is far from sufficient, and it is assumed that there may be many patients with this disease who are under observation without an accurate diagnosis. Case presentation A 30-year-old Japanese man presented to us with a few years’ history of recurrent episodes of fever, abdominal pain and diarrhea. He oft...

  5. Familial Mediterranean fever in which Crohn's disease was suspected: a case report.

    Science.gov (United States)

    Matsumoto, Satohiro; Urayoshi, Shunsuke; Yoshida, Yukio

    2014-09-27

    Familial Mediterranean fever is a hereditary autoinflammatory disease, mainly characterized by periodic fever and serositis. The level of awareness about familial Mediterranean fever is far from sufficient, and it is assumed that there may be many patients with this disease who are under observation without an accurate diagnosis. A 30-year-old Japanese man presented to us with a few years' history of recurrent episodes of fever, abdominal pain and diarrhea. He often visited a hospital when the attacks occurred; however, acute enteritis was diagnosed each time, and the symptoms resolved spontaneously within a few days. When he noticed a shortening of the interval between the attacks, he visited the hospital again. Upper endoscopy and colonoscopy performed at this hospital revealed no significant abnormal findings. He was then referred to our hospital under the suspicion of a small intestinal disease. Abdominal computed tomography revealed wall thickening and increased density of the mesenteric adipose tissue in the jejunum, which led us to suspect Crohn's disease. Oral double-balloon enteroscopy was performed; because this revealed only mild mucosal edema in the jejunum, Crohn's disease was considered to be highly improbable. Based on the patient's clinical course, we suspected familial Mediterranean fever. As the Livneh criteria for familial Mediterranean fever were satisfied, the patient was started on oral colchicine for the purpose of diagnostic treatment. A definitive diagnosis of familial Mediterranean fever was then made based on the detection of a mutation of the Mediterranean fever gene. A marked reduction in the frequency of attacks was observed in response to colchicine treatment. Although Crohn's disease may be considered first in the differential diagnosis of young patients presenting with periodic fever, abdominal pain and diarrhea, the possibility of familial Mediterranean fever should also be borne in mind.

  6. Familial Behcet′s disease

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    Srivastava Neeraj

    2007-01-01

    Full Text Available There are very few reports of Behηet′s disease from India. Familial aggregation of Behηet′s disease has been reported with restricted geographical distribution. We report here familial Behcet′s disease from India in two brothers aged 30 and 32 years. Both patients had recurrent oral and genital ulcers for approximately five years. They also had arthralgias on and off along with fever. Pathergy test was positive in both cases. Their younger brother and a sister had recurrent oral aphthous ulcers.

  7. Familial Pompe Disease

    National Research Council Canada - National Science Library

    Tecellioglu, Mehmet; Kamisli, Ozden

    2015-01-01

    .... We present a family with Pompe disease consisting of the asymptomatic mother and two siblings who presented with muscle weakness and respiratory failure and who had been followed-up with a diagnosis...

  8. Pityriasis Rotunda: A Case Report of Familial Disease in an American-Born Black Patient

    Science.gov (United States)

    Lefkowitz, Emily G.; Natow, Allen J.

    2016-01-01

    Pityriasis rotunda is an uncommon dermatosis with an unusual geographic and racial distribution. The skin disorder is characterized by sharply defined, perfectly circular, scaly patches with no inflammatory changes. Notably, it may be associated with underlying malignancy or chronic infection. We report an uncommon familial case in an American-born female. PMID:27065844

  9. Pityriasis Rotunda: A Case Report of Familial Disease in an American-Born Black Patient

    Directory of Open Access Journals (Sweden)

    Emily G. Lefkowitz

    2016-03-01

    Full Text Available Pityriasis rotunda is an uncommon dermatosis with an unusual geographic and racial distribution. The skin disorder is characterized by sharply defined, perfectly circular, scaly patches with no inflammatory changes. Notably, it may be associated with underlying malignancy or chronic infection. We report an uncommon familial case in an American-born female.

  10. 75 FR 17946 - Family Report, MTW Family Report

    Science.gov (United States)

    2010-04-08

    ... URBAN DEVELOPMENT Family Report, MTW Family Report AGENCY: Office of the Chief Information Officer, HUD... understand demographic, family profile, income, and housing information for participants in the Public... Following Information Title of Proposal: Family Report, MTW Family Report. OMB Approval Number: 2577-0083...

  11. Fahr's disease in two siblings in a family: A case report

    Science.gov (United States)

    WANG, HONG; SHAO, BEI; WANG, LIUQING; YE, QIANG

    2015-01-01

    Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare neurological disease characterized by basal ganglia calcification, Parkinsonism and psychiatric symptoms. The majority of patients with Fahr's disease are adults. The present study describes the cases of two patients with Fahr's disease. The patients were brother and sister and their parents were close relatives. The onset age of Fahr's disease in these two patients was early, with the onset age of the brother being in the teens and the sister in early childhood. The patients exhibited different clinical manifestations. The main symptoms of the male patient were Parkinson's disease appearance and the loss of the ability to carry out simple calculations, while the main symptoms of the female patient were grand mal seizures and cerebellar ataxia. Although the two patients had distinct clinical manifestations, they both had similar intracranial multiple calcifications. The computed tomography scan remains the main method used in the diagnosis of Fahr's disease. Following treatment with dopamine and a dopamine receptor agonist, the extra-pyramidal symptoms of the male were significantly relieved. The female patient was administered antiepileptic drugs and there was no recurrence of epilepsy following treatment. PMID:26136916

  12. Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.

    Science.gov (United States)

    Martin, Angela M; Maradei, Silvia J; Velasco, Harvy M

    2015-12-30

    Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

  13. Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Science.gov (United States)

    2017-05-05

    Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

  14. [A report of a family with chronic granulomatous disease with a gp91phox disorder].

    Science.gov (United States)

    Hernández, Areli Garcia; Reyes, Saúl Lugo; Yamazaki Nakashimada, Marco Antonio; Gonzáles Serrano, Maria Edith; Rosales, Francisco Espinosa; Galicia, Lizbeth Blancas

    2010-01-01

    The chronic granulomatous disease is a primary immunodeficiency with a defect of the phagocytosis process; its main alteration resides in the incapacity of the NADPH oxidase system to produce reactive oxygen species capable of destruct pathogenic organisms such as bacteria, fungus and mycobacteria. Patients are susceptible to severe and mild infections, mainly pneumonias, linfadenitis and gastroenteritis that tend to be repetitive; in addition, they presented granulomatous inflammation and autoimmunity. We presented the case of two brothers with X-linked chronic granulomatous disease with alteration in the sub-unit gp91Phox; heredofamilial background was endogamy and consanguinity. Both patients suffered severe infections, frequent abscesses and a poor growth. Diagnosis was confirmed with nitroblue tetrazolium test. During their evolution, the patients presented also BCGitis, BCGosis and septic shock. They began prophylactic treatment with trimetoprim sulfametoxazole and itraconazole, as well as gamma interferon, with favorable response, presenting a lower amount of infectious episodes, as well as a recovery of their weight and height. The early diagnosis of the patients has improved their prognosis.

  15. Familial Fahr disease in a Turkish family.

    Science.gov (United States)

    Kotan, Dilcan; Aygul, Recep

    2009-01-01

    Fahr syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We present a 42-year-old woman with Fahr disease, but lacking extrapyramidal symptoms or a metabolic disorder. Her neurological examination was normal. Computed tomographic scans demonstrated symmetrical calcification over the basal ganglia, thalamus and cerebellum. No underlying cause for the bilateral calcification was found. When screening other family members, we detected Fahr syndrome in her two daughters and three brothers, revealing that the disease was an autosomal dominant trait. Fahr disease may be clinically asymptomatic, but have pronounced positive brain imaging findings. Computed tomographic scanning remains the most effective screening tool for adult relatives.

  16. Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads.

    Science.gov (United States)

    Hyman, Charles H; Cohen, Philip R

    2013-05-15

    Knuckle pads are a rare, frequently overlooked, thickening of the skin usually overlying the extensor surface of the proximal interphalangeal joints. They are well- circumscribed, benign lesions that generally do not require treatment. Idiopathic knuckle pads must be differentiated from similar appearing lesions or trauma-induced pseudo-knuckle pads. Knuckle pads have been observed in association with autosomal dominant conditions such as Bart-Pumphrey syndrome, Dupuytren's contracture, Ledderhose disease, and Peyronie's disease. To the best of our knowledge, idiopathic familial knuckle pads have not previously been described in the English language literature. We describe a sister and brother with familial idiopathic knuckle pads with no associated conditions.

  17. Familial epidemic of meningococcal disease.

    Science.gov (United States)

    Smilović, V; Vrbanec-Megla, L; Payerl-Pal, M; Puntarić, D; Baklaić, Z

    1998-03-01

    Two closely related boys from the same house hold (Home 1), aged two and three, were affected with fulminant meningococcal sepsis known as Waterhouse-Friderichsen syndrome. Neisseria meningitidis serogorup B was isolated from their blood and cerebrospinal fluid. The two-year-old boy died one day after the onset of the disease. Epidemiological examination of contacts and pharyngeal swabs were performed in 14 persons from the household, all of them relatives of the affected children, as well as in a number of other contacts. Chemoprophylaxis with cotrimoxazole was simultaneously administered to all contacts. Family histories revealed that two contacts from the household where the patients did not live (Home 2) were inadvertently omitted. Subsequent examinations, following a report of another contagious disease (salmonelosis), revealed that these two persons were Neisseria meningitidis carriers, together with another one in the same household. The carriers most probably caused the infection of a third, five-year-old boy, the deceased boy's brother (Home 1) who also developed fulminant meningococcal sepsis. The failure to take the appropriate prophylaxis led to a prolonged carrier state in the carrier from the second household. Repeated pharyngeal swab sampling revealed two more carriers from both households that had previously been negative. Control of the epidemic was achieved after 5 weeks by repeated and controlled chemoprophylaxis with ciprofloxacin, and by repeated epidemiological examinations, disinfection, and daily health surveillance by the Sanitary Inspectorate. This extremely rare instance of a familial epidemic with three infected persons emphasizes the need for consistent chemoprophylaxis in meningococcal disease contacts.

  18. Family Report 2011

    NARCIS (Netherlands)

    Freek Bucx

    2011-01-01

    Original title: Gezinsrapport 2011. Between 2007 and 2010 the Netherlands had its first ever Minister for Youth and Family. The position of the family in modern society is a subject of considerable debate, not just at political and policy level, but also in society itself. Voices are frequently hea

  19. A Family Cluster of Chagas Disease Detected through Selective Screening of Blood Donors: A Case Report and Brief Review

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    Guillaume Mongeau-Martin

    2015-01-01

    Full Text Available Chagas disease (CD is a protozoan infection caused by Trypanosoma cruzi, which is transmitted by triatomine insect vectors in parts of Latin America. In a nonendemic country, such as Canada, spread can still occur via vertical transmission, and infected blood or organ donations. The Canadian Blood Services and Héma-Québec have both implemented selective screening of blood donors for CD based on risk factors. In 2011, Héma-Québec identified two seropositive ‘at-risk’ Chilean siblings who had donated blood in Montreal, Quebec. They were referred to the JD MacLean Centre for Tropical Diseases (Montreal, Quebec for confirmatory testing (T cruzi excreted-secreted antigen ELISA, polymerase chain reaction and/or radioimmunoprecipitation assay and follow-up. Screening of the rest of the family revealed two other seropositive family members (the mother and sister. While their geographical history in Chile suggests vectorial transmission, this family cluster of CD raises the possibility of vertical transmission. Congenital infection should always be considered among CD-positive mothers and pregnant women. With blood donor screening, Canadian physicians will increasingly see patients with CD and should know how to manage them appropriately. In addition to the case presentation, the authors review the transmission, screening and clinical management of CD in a nonendemic context.

  20. Monilethrix : Report Of A Family

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    Bhalla Mala

    2001-01-01

    Full Text Available Monilethrix is a rare inherited structural defect of the hair shaft resulting in increased fragility of the hair. It is a genetically heterogenous condition. We describe a family with autosomnal recessive inheritance with four members affected and a significant correlation of disease with consanguineous marriages in the family.

  1. FAMILIAL AMYLOID POLYNEUROPATHY——CLINICAL REPORT OF A FAMILY

    Institute of Scientific and Technical Information of China (English)

    李延峰; 郭玉璞; 池田修一; 方定华

    1996-01-01

    This paper reports a familial amyloid polyneumpathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptcans, such as impotence, dyspepaia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed. the upper extremities and motor ability were also involved. The duration of disease course wasabout 8-10 years, most patients died of infection and cacbexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. Thetrue classification, however, should be confirmed by further genetic analysis.

  2. Understanding Family Interaction Patterns in Families With Alzheimer's Disease.

    Science.gov (United States)

    Schaber, Patricia; Blair, Kate; Jost, Ellen; Schaffer, Molly; Thurner, Emily

    2016-01-01

    This qualitative study explores the dynamic changes that occur in family interaction patterns when Alzheimer's disease is present. Semi-structured interviews were conducted with 15 participants who have a family member with the disease. Using modified analytic induction, guided by the dimensions of the Family Fundamental Interpersonal Relations Orientation (FIRO) Model, participants shared how Alzheimer's disease affected family structure, control dynamics, and intimacy among family members. Findings demonstrate that (a) families reorganize and restructure based on geographic proximity and shifting roles, act out of filial responsibility, and strive to preserve shared meanings and rituals; (b) decision making increases around care of the person with Alzheimer's disease and shifts to the primary caregiver or other family members based on their abilities; and (c) expressions of intimacy intensify while personality is preserved in the person with the disease. The Family FIRO model can inform practitioners using family-centered care with families with Alzheimer's disease.

  3. Molecular analysis of the androgen receptor gene in Kennedy's disease. Report of two families and review of the literature.

    Science.gov (United States)

    Lumbroso, S; Lobaccaro, J M; Vial, C; Sassolas, G; Ollagnon, B; Belon, C; Pouget, J; Sultan, C

    1997-01-01

    We have performed a molecular analysis of the androgen receptor gene in two families with suspected Kennedy's disease (spinal and bulbar muscular atrophy, SBMA) with the aim of making a firm diagnosis of the disease. The 2 patients studied were sporadic cases. Both presented clinical signs compatible with the diagnosis of SBMA: limb and facial muscular weakness of adult onset progressing toward muscular atrophy. Clinical signs of partial androgen insensitivity syndrome usually observed in SBMA were present only in patient 2. Enzymatic amplification of the CAG repeat region of exon 1 of the androgen receptor gene was performed on genomic DNA. PCR products were submitted to agarose or acrylamide electrophoresis for size evaluation. Precise determination of the CAG number was performed by direct sequencing of purified amplification products. Androgen receptor gene analysis was also performed in 2 sisters of patient 1 and in the mother, sisters and daughter of patient 2. Androgen receptor-binding activity was also determined on cultured genital skin fibroblasts of patient 1. Analysis of PCR products showed in both patients a single band that was much larger in size than the control. The expansion of the CAG repeat number was confirmed by direct sequencing: the exact number of CAG was 47 in patient 1 and 42 in patient 2 (n = 12-32). The 2 studied sisters of patient 1 did not present the abnormal fragment, demonstrating they are not carriers for the disease. Conversely, the mother, sisters and daughter of patient 2 presented both normal and mutated alleles. The migration of the labelled PCR products on a sequencing gel revealed a meiotic instability of expanded CAG repeat in family 2. Moreover, patient 1 had a decreased androgen-binding capacity on cultured genital skin fibroblasts. In both families, analysis of the androgen receptor gene permitted us to diagnose SBMA in the patients and to establish the carrier status in siblings. These results correspond to the

  4. First report of a family outbreak of Chagas disease in French Guiana and posttreatment follow-up.

    Science.gov (United States)

    Blanchet, Denis; Brenière, Simone Frédérique; Schijman, Alejandro G; Bisio, Margarita; Simon, Stéphane; Véron, Vincent; Mayence, Claire; Demar-Pierre, Magalie; Djossou, Félix; Aznar, Christine

    2014-12-01

    The outbreak of acute Chagas disease due to oral transmission of the parasite is a well-known phenomenon mainly occurring in the Amazon. Such an event is described here for the first time in French Guiana. Eight patients of the same family, presenting epidemiological and clinical histories compatible with recent Trypanosoma cruzi infection of Chagas disease due to the ingestion of palm Oenocarpus bacaba juice were, rather late after the putative date of infection, underwent four parasitological and two serological specific tests for confirmation of the diagnosis. Real-time PCR results were positive for all the patients; strains were isolated by hemoculture from four patients, PCR identification of TcI DTU was made for six patients, while parasites were not detected in any of the patients by direct microscopic examination. The results of two serologic tests were positive. All patients were treated with benznidazole, and two patients were additionally given nifurtimox. A 6-year follow-up was possible for six patients. Real-time PCR was negative for these patients after 1 year, while the antibody rates decreased slowly and serology results were negative only after several years (1-5 years). Our findings confirm the occurrence of an outbreak of Chagas infection in members of the same family, with the oral mode of infection being the most likely hypothesis to explain this group of cases. Our results show the successful treatment of patients infected by TcI and the usefulness of real-time PCR for the emergency diagnosis of recent Chagas disease cases and in posttreatment follow-up.

  5. Familial occurrence of inflammatory bowel disease in celiac disease.

    Science.gov (United States)

    Cottone, Mario; Marrone, Ciro; Casà, Angelo; Oliva, Lorenzo; Orlando, Ambrogio; Calabrese, Emma; Martorana, Giuseppe; Pagliaro, Luigi

    2003-09-01

    The authors have previously reported a possible increased risk of the familial occurrence of Crohn's disease in patients with celiac disease. The aim of the current study was to evaluate in a case-control study the familial occurrence of inflammatory bowel disease (IBD) in first-degree relatives of patients with celiac disease. One hundred eleven consecutive patients with biopsy-proven celiac disease were interviewed to ascertain whether IBD was present in first-degree relatives. The number of relatives, their ages, and possible IBD status were collected in a questionnaire. When a diagnosis of familial IBD was reported, the diagnosis was checked in the hospital records. Two hundred twenty-two controls matched for age and sex (111 from the general population and 111 from orthopedic wards) were also interviewed regarding the possible occurrence of IBD in first-degree relatives. The chi2 test was used to evaluate the difference in proportion of familial occurrence of IBD among individuals with celiac disease and controls. Among 600 first-degree relatives of patients with celiac disease, 10 cases of IBD were identified among first-degree relatives (7 cases of ulcerative colitis and 3 cases of Crohn's disease), whereas only 1 case of IBD was identified among the 1,196 first-degree relatives of control patients (p case-control study shows that there is a significantly increased prevalence of familial ulcerative colitis in patients with celiac disease. There was no significant increase in the prevalence of Crohn's disease in patients with celiac disease. The possible role of this association is discussed.

  6. Family physician perspectives on primary immunodeficiency diseases

    Directory of Open Access Journals (Sweden)

    Jordan eOrange

    2016-03-01

    Full Text Available Primary immunodeficiency diseases (PID include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed family practice physicians, of whom 44% reported following ≥1 patient with a PID. Selective immunoglobulin A (IgA, deficiency (21%, and chronic granulomatous disease (11% were most common and were followed by significantly more subspecialist immunologists (P<.0001. Use of intravenously administered Ig, and live viral vaccinations across PID was significantly different (P<.0001. Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4% vs. 79% of subspecialist immunologists, P<.0001. Family practice physicians will likely encounter patients with a PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

  7. Familial myasthenia gravis: report of four cases

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    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.

  8. Familial idiopathic basal ganglia calcification (Fahr’s disease)

    OpenAIRE

    Mufaddel, Amir A.; Al-Hassani, Ghanem A.

    2014-01-01

    Familial idiopathic basal ganglia calcification (Fahr’s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr’s disease have been reported, predominantly with autosomal-dominant fashion. The disease has a wide range of clinical presentations, predominantly with neuropsych...

  9. Exome sequencing in a family segregating for celiac disease

    NARCIS (Netherlands)

    Szperl, A M; Ricaño-Ponce, I; Li, J K; Deelen, P; Kanterakis, A; Plagnol, V; van Dijk, Freerk; Westra, H J; Trynka, G; Mulder, C. J.; Swertz, M; Wijmenga, Cisca; Zheng, H C H

    Celiac disease is a multifactorial disorder caused by an unknown number of genetic factors interacting with an environmental factor. Hence, most patients are singletons and large families segregating with celiac disease are rare. We report on a three-generation family with six patients in which the

  10. Exome sequencing in a family segregating for celiac disease

    NARCIS (Netherlands)

    Szperl, A M; Ricaño-Ponce, I; Li, J K; Deelen, P; Kanterakis, A; Plagnol, V; van Dijk, Freerk; Westra, H J; Trynka, G; Mulder, C. J.; Swertz, M; Wijmenga, Cisca; Zheng, H C H

    2011-01-01

    Celiac disease is a multifactorial disorder caused by an unknown number of genetic factors interacting with an environmental factor. Hence, most patients are singletons and large families segregating with celiac disease are rare. We report on a three-generation family with six patients in which the

  11. Women's health and fertility, family planning and pregnancy in immune-mediated rheumatic diseases: a report from a south-eastern European Expert Meeting.

    Science.gov (United States)

    Ntali, Stella; Damjanov, Nemanja; Drakakis, Peter; Ionescu, Ruxandra; Kalinova, Desislava; Rashkov, Rasho; Malamitsi-Puchner, Ariadne; Mantzaris, Gerassimos; Michala, Lina; Pamfil, Cristina; Rednic, Simona; Tektonidou, Maria G; Tsiodras, Sotirios; Vassilopoulos, Dimitrios; Vojinovic, Jelena; Bertsias, George K; Boumpas, Dimitrios T

    2014-01-01

    With current advances in medical treatment, reproductive issues have become more important for women with chronic immune-mediated diseases. Most, if not all, patients report that their disease affects their personal relationships, their decision to have children, and the size of their family. These decisions are multi-factorial, influenced mainly by concerns over the effect of pregnancy on the rheumatic disease, the impact of disease activity during pregnancy on foetal health, the patient's ability to care for the child, and the possible harmful effects medication could have on the child, both pre- and post-natally during breastfeeding. Apart from that, women's health issues tend to be overlooked in favour of the management of the underlying rheumatic disease. To this end, we convened an expert panel to review the published literature on women's health and reproductive issues and provide evidence- and eminence-based points to consider for the treating physicians. We conclude that there is a need for a change in mind-set from one which 'cautions against pregnancy' to one which 'embraces pregnancy' through the practice of individualised, pre- and post-conceptual, multi-disciplinary care.

  12. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...

  13. Lack of familial aggregation of Parkinson disease and Alzheimer disease.

    Science.gov (United States)

    Levy, Gilberto; Louis, Elan D; Mejia-Santana, Helen; Côté, Lucien; Andrews, Howard; Harris, Juliette; Waters, Cheryl; Ford, Blair; Frucht, Steven; Fahn, Stanley; Ottman, Ruth; Marder, Karen

    2004-07-01

    To investigate the risk of Alzheimer disease (AD) in first-degree relatives of patients with Parkinson disease (PD) compared with first-degree relatives of controls. Case-control study, family history method, and reconstructed cohort approach. Probands with PD without dementia and control probands, matched by age strata, sex, and ethnicity, were examined in person and enrolled without knowledge of family history of PD and other neurological disorders. Disease status in first-degree relatives of probands with PD and control probands was ascertained through a structured family history interview administered to the proband and a second informant (self-report or another informant). Cox proportional hazards models with double-censoring techniques for missing information on age of onset of AD were used to analyze the risk of AD in first-degree relatives of patients with PD compared with first-degree relatives of controls. Four hundred eighty-seven probands with PD and 409 control probands provided family history information on 4819 first-degree relatives older than 30 years (2534 relatives of probands with PD and 2285 relatives of control probands). One hundred thirteen first-degree relatives (2.3%; 61 relatives [2.4%] of patients with PD and 52 relatives [2.3%] of controls) were diagnosed with AD. The risk of AD was not increased in relatives of patients with PD compared with relatives of controls (hazard ratio, 1.1; 95% confidence interval, 0.7-1.6; P =.65). Similarly, no significantly increased risk of AD was observed when comparing relatives of patients with early-onset (50 years) PD with relatives of controls. The lack of familial aggregation of PD and AD does not support the hypothesis of major shared genetic contributions to the etiology of the 2 most common neurodegenerative disorders.

  14. Familial occurrence of inflammatory bowel disease

    DEFF Research Database (Denmark)

    Orholm, M; Munkholm, P; Langholz, E

    1991-01-01

    BACKGROUND AND METHODS: We assessed the familial occurrence of inflammatory bowel disease in Copenhagen County, where there has been a long-term interest in the epidemiology of such disorders. In 1987 we interviewed 662 patients in whom inflammatory bowel disease had been diagnosed before 1979...... or Crohn's disease) among second-degree relatives was increased; the prevalence of the other disease was not increased. CONCLUSIONS: The 10-fold increase in the familial risk of ulcerative colitis and Crohn's disease strongly suggests that these disorders have a genetic cause....... with ulcerative colitis or Crohn's disease had a 10-fold increase in the risk of having the same disease as the patients, after standardization for age and sex. The risk of having the other of the two diseases was also increased, but less so, and the increase in the risk of having Crohn's disease...

  15. Family History of Autoimmune Thyroid Disease

    Directory of Open Access Journals (Sweden)

    O D Rymar

    2013-12-01

    Full Text Available The aim of this study was estimate the clinical characteristics of Graves' disease (GD and Hashimoto's thyroiditis (HT in first@degree relatives of persons in families with autoimmune thyroid diseases (AITD. Patients: Eighty one patients with AITD of 40 families, mean age (+/@s.d. 41.9 ± 1.8; range 18-73 years. In 10 families (25% AITD traced among siblings, whose average age was 33.6 ± 3.5 years, 29 families (72.5% - of two generations (parent@ descendant 57.4 ± 1.6 and 32.2 ± 1.5 years, p = 0.001, respectively. In one family (2.5% the disease was traced in both parents and their offspring. Results. Among patients with a positive family history for AITD is dominated by a pair of parent - descendant with a diagnosis of hypothyroidism (55%. Preliminary evidence of genetic anticipation in GD and HT. Patients with a family history of AITD ill of GD and HT to 50 years (84%, half - up to 30 years (47%. In familial forms of GD, a decrease in compensated patients for two generations. Among parents and descendant with hypothyroidism, there is a low percentage of persons over the medical euthyroidism (42%.

  16. Familial Confluent and Reticulated Papillomatosis: Two Brothers - Case Report

    Directory of Open Access Journals (Sweden)

    Aslı Feride Kaptanoğlu

    2012-09-01

    Full Text Available Confluent and reticulated papillomatosis (CRP is a rare disease presenting with keratotic pigmented papules located mostly on the chest, neck and trunk with unknown etiology. Genetic, keratinization abnormalities, abnormal host reaction to fungal or bacterial infections and endocrine diseases are suspected in the etiopathogenesis. The role of heredity in the pathogenesis of CRP arised with the familial case reports. There are sporadic case reports whereas familial reports are rare in the literature. Here, we present 22 and 20 year-old two brothers with familial confluent and reticulated papillomatosis. Our cases who live apart in different countries with different environments and climates, supply strong evidence for the genetic basis of the disease. This two brothers with CRP are presented due to rare familial occurence.

  17. Familial congenital heart disease in Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Sri Endah Rahayuningsih

    2013-01-01

    Full Text Available Background Congenital heart disease (CHD may occur in several members of a family. Studies have shown that familial genetic factor play a role in CHD.Objective To identify familial recurrences of CHD in families with at least one member treated for CHD in Dr. Hasan Sadikin Hospital, Bandung Indonesia.Methods In this descriptive study, subjects were CHD patients hospitalized or treated from January 2005 to December 2011. We constructed family pedigrees for five families.Results During the study period, there were 1,779 patients with CHD. We found 5 families with 12 familial CHD cases, consisting of 8 boys and 4 girls. Defects observed in these 12 patients were tetralogy of Fallot, transposition of the great arteries, persistent ductus arteriosus, ventricular septal defect, tricuspid atresia, pulmonary stenosis, and dilated cardiomyopathy. Persistent ductus arteriosus was the most frequently observed defect (4 out of 12 subjects. None of the families had a history of consanguinity. The recurrence risk of CHD among siblings was calculated to be 0.67%, and the recurrence risk of CHD among cousins was 0.16%.Conclusion Familial CHD may indicate the need for genetic counseling and further pedigree analysis.

  18. Familial congenital heart disease in Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Sri Endah Rahayuningsih

    2013-03-01

    Full Text Available Background Congenital heart disease (CHD may occur in several members of a family. Studies have shown that familial genetic factor play a role in CHD. Objective To identify familial recurrences of CHD in families with at least one member treated for CHD in Dr. Hasan Sadikin Hospital, Bandung Indonesia. Methods In this descriptive study, subjects were CHD patients hospitalized or treated from January 2005 to December 2011. We constructed family pedigrees for five families. Results During the study period, there were 1,779 patients with CHD. We found 5 families with 12 familial CHD cases, consisting of 8 boys and 4 girls. Defects observed in these 12 patients were tetralogy of Fallot, transposition of the great arteries, persistent ductus arteriosus, ventricular septal defect, tricuspid atresia, pulmonary stenosis, and dilated cardiomyopathy. Persistent ductus arteriosus was the most frequently observed defect (4 out of 12 subjects. None of the families had a history of consanguinity. The recurrence risk of CHD among siblings was calculated to be 0.67%, and the recurrence risk of CHD among cousins was 0.16%. Conclusion Familial CHD may indicate the need for genetic counseling and further pedigree analysis. [Paediatr Indones. 2013;53:173-6.

  19. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    female-headed families than for married-couple families. The comped families than for married-couple families. The composition of children's families and the time parents have for their children affect child rearing. Consequent to the increase in female-headed households, rising economic and personal need, and increased opportunities for women, the proportion of mothers who are in the workforce has climbed steadily over the past several decades. Currently, approximately two thirds of all mothers with children younger than 18 years are employed. Most families with young children depend on child care, and most child care is not of good quality. Reliance on child care involves longer days for children and families, the stress imposed by schedules and created by transitions, exposure to infections, and considerable cost. An increasing number and proportion of parents are also devoting time previously available to their children to the care of their own parents. The so-called "sandwich generation" of parents is being pulled in multiple directions. The amount and use of family time also has changed with a lengthening workday, including the amount of commuting time necessary to travel between work and home, and with the intrusion of television and computers into family life. In public opinion polls, most parents report that they believe it is more difficult to be a parent now than it used to be; people seem to feel more isolated, social and media pressures on and enticements of their children seem greater, and the world seems to be a more dangerous place. Social and public policy has not kept up with these changes, leaving families stretched for time and stressed to cope and meet their responsibilities. What can and what should pediatrics do to help families raise healthy and well-adjusted children? How can individual pediatricians better support families? FAMILY PEDIATRICS: The American Academy of Pediatrics (AAP) Board of Directors appointed the Task Force on the Family to

  20. Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.

    Science.gov (United States)

    Caleshu, Colleen; Kasparian, Nadine A; Edwards, Katharine S; Yeates, Laura; Semsarian, Christopher; Perez, Marco; Ashley, Euan; Turner, Christian J; Knowles, Joshua W; Ingles, Jodie

    2016-10-01

    Inherited cardiovascular diseases pose unique and complex psychosocial challenges for families, including coming to terms with life-long cardiac disease, risk of sudden death, grief related to the sudden death of a loved one, activity restrictions, and inheritance risk to other family members. Psychosocial factors impact not only mental health but also physical health and cooperation with clinical recommendations. We describe an interdisciplinary approach to the care of families with inherited cardiovascular disease, in which psychological care provided by specialized cardiac genetic counselors, nurses, and psychologists is embedded within the cardiovascular care team. We report illustrative cases and the supporting literature to demonstrate common scenarios, as well as practical guidance for clinicians working in the inherited cardiovascular disease setting. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Celiac disease - case report

    Directory of Open Access Journals (Sweden)

    Bojković Gradimir

    2002-01-01

    Full Text Available Introduction Celiac disease (nontropical sprue, gluten-sensitive enteropathy, chronic intestinal malabsorption disorder is caused by gluten intolerance. This hereditary disorder is caused by sensitivity to gliadin. Because the body's own immune system causes the damage, celiac disease is considered to be an autoimmune disorder. However, it is also classified as a disease of malabsorption because nutrients are not absorbed. When people with celiac disease eat foods containing gluten, their immune system responds by damaging the small intestine. Specifically, tiny finger-like protrusions, called villi, on the lining of the small intestine are lost. The diagnosis is suspected on the basis of symptoms and signs, enhanced by laboratory and x-ray studies, and confirmed by biopsy revealing flat mucosa and subsequent clinical and histologic improvement on a gluten-free diet. Gluten must be excluded from diet. Supplementary vitamins, minerals and hematinics may be given depending on deficiency. Case report This is a case report of a 23-year old female patient with a mineralization defect (osteomalacia and secondary osteoporosis caused by long-time unrecognized celiac disease. The patient had many symptoms: short stature, steatorrhea, anemia, weight loss and chronic bone pain. Laboratory and x-ray studies and jejunal biopsy revealed a chronic intestinal malabsorption disorder caused by gluten intolerance. Gluten-free diet and supplementary vitamins, minerals and hematinics were included with apparent clinical remission. Discussion and Conclusion Some people with celiac disease may not have symptoms. The undamaged part of their small intestine is able to absorb enough nutrients to prevent symptoms. However, people without symptoms are still at risk for complications of celiac disease. Biopsy of the small intestine is the best way to diagnose celiac disease. Decreased bone density (osteoporosis and osteomalacia is a serious problem for celiacs. If calcium

  2. Familial risk of inflammatory bowel disease

    DEFF Research Database (Denmark)

    Moller, Frederik Trier; Andersen, Vibeke; Wohlfahrt, Jan;

    2015-01-01

    OBJECTIVES: Estimates of familial risk of inflammatory bowel diseases (IBDs), Crohn's disease (CD), and ulcerative colitis (UC) are needed for counseling of patients and could be used to target future prevention. We aimed to provide comprehensive population-based estimates of familial risk of IBD....... METHODS: The study encompassed the entire Danish population during 1977-2011 (N=8,295,773; 200 million person-years). From national registries, we obtained information on diagnosis date of IBD (N=45,780) and family ties. Using Poisson regression, we estimated incidence rate ratios (IRRs) of IBD...... in relatives of IBD cases compared with individuals with relatives of the same type without IBD. RESULTS: The risk of CD was significantly increased in first-degree (IRR, 7.77; 95% confidence interval (CI), 7.05-8.56), second-degree (IRR, 2.44; 95% CI, 2.01-2.96), and third-degree relatives (IRR, 1.88; 95% CI...

  3. Diseases of herbs from Apiaceae family

    Directory of Open Access Journals (Sweden)

    Ewa Dorota Zalewska

    2013-04-01

    Full Text Available The largest participation in causing the disease of herbal plants have fungi. Studies on their occurrence on plants of the family Apiaceae are conducted in the Lublin region since 2001. The observations of plant healthiness are carried out directly on the plantations. Plants with symptoms of disease are studied in the laboratory. Identification of the fungi is performed based on etiological symptoms and on the base of fungal cultures isolated from plants. Among the many species of fungi obtained from diseased plants to the particularly harmful belong: Septoria carvi, Colletotrichum gloeosporioidesand C. dematium, Sclerotinia sclerotiorum, Passalora puncta(Cercosporidium punctum and Erysiphe umbelliferarum.

  4. Association of Familial Mediterranean Fever and Crohn’s disease

    Directory of Open Access Journals (Sweden)

    Gökhan Tümgör

    2013-01-01

    Full Text Available Familial Mediterranean fever is an autosomal recessive,short, acute, self-limiting disease characterized by attacksof fever and polyserositis, which is common in countriesaround the Mediterranean. Inflammatory bowel diseaseis a term used to describe Ulcerative colitis and Crohn’sdisease that associated with chronic idiopathic inflammatory.The patient had FMF but she had been well untilapproximately 20 days before admission, when malaise,fever, abdominal pain, right knee and ankle edema developed.She was taking colchicine. The patient diagnosedas Crohn Disease by endoscopy and histopathology. Thiscase report is presented to emphasize the association oftwo diseases.Key words: Familial Mediterranean Fever, inflammatorybowel disease, Crohn’s disease, childhood

  5. Examination of Huntington's disease in a Chinese family.

    Science.gov (United States)

    Yu, Mingxia; Li, Xiaogai; Wu, Sanyun; Shen, Ji; Tu, Jiancheng

    2014-02-15

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  6. Examination of Huntington’s disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Mingxia Yu; Xiaogai Li; Sanyun Wu; Ji Shen; Jiancheng Tu

    2014-01-01

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington’s disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington’s disease, involuntary dance-like movements. Mag-netic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identiifed abnormally ampliifed CAG sequence repeats (>40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington’s disease, two cases were identiifed (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington’s disease. Our ifndings suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  7. Interleukin-1 Family Cytokines in Liver Diseases.

    Science.gov (United States)

    Tsutsui, Hiroko; Cai, Xianbin; Hayashi, Shuhei

    2015-01-01

    The gene encoding IL-1 was sequenced more than 30 years ago, and many related cytokines, such as IL-18, IL-33, IL-36, IL-37, IL-38, IL-1 receptor antagonist (IL-1Ra), and IL-36Ra, have since been identified. IL-1 is a potent proinflammatory cytokine and is involved in various inflammatory diseases. Other IL-1 family ligands are critical for the development of diverse diseases, including inflammatory and allergic diseases. Only IL-1Ra possesses the leader peptide required for secretion from cells, and many ligands require posttranslational processing for activation. Some require inflammasome-mediated processing for activation and release, whereas others serve as alarmins and are released following cell membrane rupture, for example, by pyroptosis or necroptosis. Thus, each ligand has the proper molecular process to exert its own biological functions. In this review, we will give a brief introduction to the IL-1 family cytokines and discuss their pivotal roles in the development of various liver diseases in association with immune responses. For example, an excess of IL-33 causes liver fibrosis in mice via activation and expansion of group 2 innate lymphoid cells to produce type 2 cytokines, resulting in cell conversion into pro-fibrotic M2 macrophages. Finally, we will discuss the importance of IL-1 family cytokine-mediated molecular and cellular networks in the development of acute and chronic liver diseases.

  8. Familial periodontal disease in the Cayo Santiago rhesus macaques.

    Science.gov (United States)

    Gonzalez, Octavio A; Orraca, Luis; Kensler, Terry B; Gonzalez-Martinez, Janis; Maldonado, Elizabeth; Ebersole, Jeffrey L

    2016-01-01

    Substantial ongoing research continues to explore the contribution of genetics and environment to the onset, extent and severity of periodontal disease(s). Existing evidence supports that periodontal disease appears to have an increased prevalence in family units with a member having aggressive periodontitis. We have been using the nonhuman primate as a model of periodontal disease for over 25 years with these species demonstrating naturally occurring periodontal disease that increases with age. This report details our findings from evaluation of periodontal disease in skulls from 97 animals (5-31 years of age) derived from the skeletons of the rhesus monkeys (Macaca mulatta) on Cayo Santiago. Periodontal disease was evaluated by determining the distance from the base of the alveolar bone defect to the cemento-enamel junction on 1st/2nd premolars and 1st/2nd molars from all four quadrants. The results demonstrated an increasing extent and severity of periodontitis with aging across the population of animals beyond only compensatory eruption. Importantly, irrespective of age, extensive heterogeneity in disease expression was observed among the animals. Linking these variations to multi-generational matriarchal family units supported familial susceptibility of periodontitis. As the current generations of animals that are descendants from these matrilines are alive, studies can be conducted to explore an array of underlying factors that could account for susceptibility or resistance to periodontal disease. © 2016 Wiley Periodicals, Inc.

  9. Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.

    Science.gov (United States)

    Gianfrancesco, Fernando; Rendina, Domenico; Merlotti, Daniela; Esposito, Teresa; Amyere, Mustapha; Formicola, Daniela; Muscariello, Riccardo; De Filippo, Gianpaolo; Strazzullo, Pasquale; Nuti, Ranuccio; Vikkula, Mikka; Gennari, Luigi

    2013-02-01

    Neoplastic degeneration represents a rare but serious complication of Paget's disease of bone (PDB). Although osteosarcomas have been described in up to 1% of PDB cases, giant cell tumors are less frequent and mainly occur in patients with polyostotic disease. We recently characterized a large pedigree with 14 affected members of whom four developed giant cell tumors at pagetic sites. The high number of affected subjects across multiple generations allowed us to better characterize the clinical phenotype and look for possible susceptibility loci. Of interest, all the affected members had polyostotic PDB, but subjects developing giant cell tumors showed an increased disease severity with a reduced clinical response to bisphosphonate treatment and an increased prevalence of bone pain, deformities, and fractures. Together with an increased occurrence of common pagetic complications, affected patients of this pedigree also evidenced a fivefold higher prevalence of coronary artery disease with respect to either the unaffected family members or a comparative cohort of 150 unrelated PDB cases from the same geographical area. This association was further enhanced in the four cases with PDB and giant cell tumors, all of them developing coronary artery disease before 60 years of age. Despite the early onset and the severe phenotype, PDB patients from this pedigree were negative for the presence of SQSTM1 or TNFRSF11A mutations, previously associated with enhanced disease severity. Genome-wide linkage analysis identified six possible candidate regions on chromosomes 1, 5, 6, 8, 10, and 20. Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree. Copyright © 2013 American Society for

  10. Exploring family communication about sickle cell disease in adolescence.

    Science.gov (United States)

    Graff, J Carolyn; Hankins, Jane; Graves, Rebecca J; Robitaille, Kimberly Y; Roberts, Ruth; Cejda, Katherine; Hardy, Belinda T; Johnson, Margery; Porter, Jerlym S

    2012-01-01

    Sickle cell disease (SCD) is a lifelong disorder that involves progressive organ damage and requires ongoing medical attention to prevent and treat episodic acute complications. Children with SCD need ongoing monitoring and extra attention that may be stressful to family members. Communication within families can help resolve family stress and may be associated with medical follow-up and management of SCD. Focus groups were conducted with 12 African American families to explore the communication that occurred within and outside of the family from the perspectives of adolescents with SCD, siblings, and parents. Factors that influence family communication were explored. The extended family was an important social network and resource to adolescents, siblings, and parents. Family member knowledge of SCD was an important factor that influenced communication about SCD; adolescents and parents communicated more easily than siblings and also reported having more knowledge of SCD than siblings. Future research focusing on the knowledge of immediate and extended family members and their recognition of their contribution to the child with SCD is recommended.

  11. Family aggregation of cardiovascular disease mortality

    DEFF Research Database (Denmark)

    Silventoinen, Karri; Hjelmborg, Jacob; Möller, Sören

    2017-01-01

    Background: Familial factors play an important role in the variation of risk factors of cardiovascular diseases (CVD), but less is known about how they affect the risk of death from CVD. We estimated familial aggregation of CVD mortality for twins offering the maximum level of risk due to genetic...... deaths from myocardial infarct and 4855 deaths occurred from stroke, with 1092 deaths from ischaemic stroke and 1159 deaths from haemorrhagic stroke. Relative recurrence risk ratios (RRRs) with 95% confidence intervals (95% CIs) for monozygotic and dizygotic twins were calculated. Results......: In the analyses pooling men and women, the RRR for monozygotic twins was 1.49 (95% CI 1.40-1.57) for CHD and 1.81 for any stroke (95% CI 1.54-2.09). The highest RRR was found for haemorrhagic stroke (3.53 95% CI 2.01-5.04). For dizygotic twins, the RRRs were generally lower. Conclusions: Family aggregation...

  12. Familial occurrence of systemic mast cell activation disease.

    Directory of Open Access Journals (Sweden)

    Gerhard J Molderings

    Full Text Available Systemic mast cell activation disease (MCAD comprises disorders characterized by an enhanced release of mast cell mediators accompanied by accumulation of dysfunctional mast cells. Demonstration of familial clustering would be an important step towards defining the genetic contribution to the risk of systemic MCAD. The present study aimed to quantify familial aggregation for MCAD and to investigate the variability of clinical and molecular findings (e.g. somatic mutations in KIT among affected family members in three selected pedigrees. Our data suggest that systemic MCAD pedigrees include more systemic MCAD cases than would be expected by chance, i.e., compared with the prevalence of MCAD in the general population. The prevalence of MCAD suspected by symptom self-report in first-degree relatives of patients with MCAD amounted to approximately 46%, compared to prevalence in the general German population of about 17% (p<0.0001. In three families with a high familial loading of MCAD, the subtype of MCAD and the severity of mediator-related symptoms varied between family members. In addition, genetic alterations detected in KIT were variable, and included mutations at position 816 of the amino acid sequence. In conclusion, our data provide evidence for common familial occurrence of MCAD. Our findings observed in the three pedigrees together with recent reports in the literature suggest that, in familial cases (i.e., in the majority of MCAD, mutated disease-related operator and/or regulator genes could be responsible for the development of somatic mutations in KIT and other proteins important for the regulation of mast cell activity. Accordingly, the immunohistochemically different subtypes of MCAD (i.e. mast cell activation syndrome and systemic mastocytosis should be more accurately regarded as varying presentations of a common generic root process of mast cell dysfunction, than as distinct diseases.

  13. Reg gene family and human diseases

    Institute of Scientific and Technical Information of China (English)

    Yu-Wei Zhang; Liu-Song Ding; Mao-De Lai

    2003-01-01

    Regenerating gene (Reg or REG) family, within the superfamily of C-type lectin, is mainly involved in the liver,pancreatic, gastric and intestinal cell proliferation or differentiation. Considerable attention has focused on Reg family and its structurally related molecules. Over the last 15 years, 17 members of the Reg family have been cloned and sequenced. They have been considered as members of a conserved protein family sharing structural and some functional properties being involved in injury, inflammation,diabetes and carcinogenesis. We previously identified Reg Ⅳ as a strong candidate for a gene that was highly expressed in colorectal adenoma when compared to normal mucosa based on suppression subtractive hybridization (SSH),reverse Northern blot, semi-quantitative reverse transcriptase PCR (RT-PCR)and Northern blot. In situ hybridization results further support that overexpression of Reg Ⅳ may be an early event in colorectal carcinogenesis. We suggest that detection of Reg Ⅳ overexpression might be useful in the early diagnosis of carcinomatous transformation of adenoma.This review summarizes the roles of Reg family in diseases in the literature as well as our recent results of Reg Ⅳ in colorectal cancer. The biological properties of Reg family and its possible roles in human diseases are discussed. We particularly focus on the roles of Reg family as sensitive reactants of tissue injury, prognostic indicators of tumor survival and early biomarkers of carcinogenesis. In addition to our current understanding of Reg gene functions, we postulate that there might be relationships between Reg family and microsatellite instability, apoptosis and cancer with a poor prognosis. Investigation of the correlation between tumor Reg expression and survival rate, and analysis of the Reg gene status in human maliganancies, are required to elucidate the biologic consequences of Reg gene expression, the implications for Reg gene regulation of cell growth, tumorigenesis

  14. Familial idiopathic basal ganglia calcification (Fahr’s disease)

    Science.gov (United States)

    Mufaddel, Amir A.; Al-Hassani, Ghanem A.

    2014-01-01

    Familial idiopathic basal ganglia calcification (Fahr’s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr’s disease have been reported, predominantly with autosomal-dominant fashion. The disease has a wide range of clinical presentations, predominantly with neuropsychiatric features and movement disorders. Psychiatric features reported in the literature include: cognitive impairment, depression, hallucinations, delusions, manic symptoms, anxiety, schizophrenia-like psychosis, and personality change. Other clinical features include: Parkinsonism, ataxia, headache, seizures, vertigo, stroke-like events, orthostatic hypotension, tremor, dysarthria, and paresis. Fahr’s disease should be considered in the differential diagnosis of psychiatric symptoms, particularly when associated with movement disorder. The disease should be differentiated from other conditions that can cause intracranial calcification. No specific treatment is currently available. Further research is needed to bridge the gap existing in our current knowledge of the prevalence, etiology, symptoms, and treatment of Fahr’s disease. PMID:24983277

  15. Familial idiopathic basal ganglia calcification (Fahr`s disease).

    Science.gov (United States)

    Mufaddel, Amir A; Al-Hassani, Ghanem A

    2014-07-01

    Familial idiopathic basal ganglia calcification (Fahr`s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr`s disease have been reported, predominantly with autosomal-dominant fashion. The disease has a wide range of clinical presentations, predominantly with neuropsychiatric features and movement disorders. Psychiatric features reported in the literature include: cognitive impairment, depression, hallucinations, delusions, manic symptoms, anxiety, schizophrenia-like psychosis, and personality change. Other clinical features include: Parkinsonism, ataxia, headache, seizures, vertigo, stroke-like events, orthostatic hypotension, tremor, dysarthria, and paresis. Fahr`s disease should be considered in the differential diagnosis of psychiatric symptoms, particularly when associated with movement disorder. The disease should be differentiated from other conditions that can cause intracranial calcification. No specific treatment is currently available. Further research is needed to bridge the gap existing in our current knowledge of the prevalence, etiology, symptoms, and treatment of Fahr`s disease.

  16. Hailey- Hailey Disease - A Report Of Four Cases

    Directory of Open Access Journals (Sweden)

    Das Jayasri

    2002-01-01

    Full Text Available Hailey-Hailey disease is a benign familial chronic vesicobullous disease with unique histopathology. Four cases of this rare genodermatosis are reported here. All of them had the history of exacerbation in hot and humid weather.

  17. Mis-reporting, previous health status and health status of family may seriously bias the association between food patterns and disease.

    Science.gov (United States)

    Hörnell, Agneta; Winkvist, Anna; Hallmans, Göran; Weinehall, Lars; Johansson, Ingegerd

    2010-10-30

    Food pattern analyses are popular tools in the study of associations between diet and health. However, there is a need for further evaluation of this methodology. The aim of the present cross-sectional study was to evaluate the relationship between food pattern groups (FPG) and existing health, and to identify factors influencing this relationship. The inhabitants of Västerbotten County in northern Sweden are invited to health check-ups when they turn 30, 40, 50, and 60 years of age. The present study includes data collected from almost 60,000 individuals between 1992 and 2005. Associations between FPG (established using K-means cluster analyses) and health were analyzed separately in men and women. The health status of the participants and their close family and reporting accuracy differed significantly between men and women and among FPG. Crude regression analyses, with the high fat FPG as reference, showed increased risks for several health outcomes for all other FPGs in both sexes. However, when limiting analysis to individuals without previous ill-health and with adequate energy intake reports, most of the risks instead showed a trend towards protective effects. Food pattern classifications reflect both eating habits and other own and family health related factors, a finding important to remember and to adjust for before singling out the diet as a primary cause for present and future health problems. Appropriate exclusions are suggested to avoid biases and attenuated associations in nutrition epidemiology.

  18. Mis-reporting, previous health status and health status of family may seriously bias the association between food patterns and disease

    Directory of Open Access Journals (Sweden)

    Weinehall Lars

    2010-10-01

    Full Text Available Abstract Background Food pattern analyses are popular tools in the study of associations between diet and health. However, there is a need for further evaluation of this methodology. The aim of the present cross-sectional study was to evaluate the relationship between food pattern groups (FPG and existing health, and to identify factors influencing this relationship. Methods The inhabitants of Västerbotten County in northern Sweden are invited to health check-ups when they turn 30, 40, 50, and 60 years of age. The present study includes data collected from almost 60,000 individuals between 1992 and 2005. Associations between FPG (established using K-means cluster analyses and health were analyzed separately in men and women. Results The health status of the participants and their close family and reporting accuracy differed significantly between men and women and among FPG. Crude regression analyses, with the high fat FPG as reference, showed increased risks for several health outcomes for all other FPGs in both sexes. However, when limiting analysis to individuals without previous ill-health and with adequate energy intake reports, most of the risks instead showed a trend towards protective effects. Conclusions Food pattern classifications reflect both eating habits and other own and family health related factors, a finding important to remember and to adjust for before singling out the diet as a primary cause for present and future health problems. Appropriate exclusions are suggested to avoid biases and attenuated associations in nutrition epidemiology.

  19. Assessing Family Economic Status From Teacher Reports.

    Science.gov (United States)

    Moskowitz, Joel M.; Hoepfner, Ralph

    The utility of employing teacher reports about characteristics of students and their parents to assess family economic status was investigated using multiple regression analyses. The accuracy of teacher reports about parents' educational background was also explored, in addition to the effect of replacing missing data with logical, mean, or modal…

  20. Familial Mediterranean fever and membranous glomerulonephritis: report of a case.

    Science.gov (United States)

    Ceri, Mevlut; Unverdi, Selman; Altay, Mustafa; Unverdi, Hatice; Ensari, Arzu; Duranay, Murat

    2010-01-01

    Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease characterized by recurrent attacks of fever and painful episodes of sterile polyserositis. Kidney involvement may occur as a result of secondary amyloidosis during the course of FMF. Previously, different types of glomerulopathies such as IgM and IgA nephropathy, crescentic glomerulonephritis, diffuse proliferative glomerulonephritis, minimal change disease, and membranoproliferative glomerulonephritis were rarely reported. We herein represent a first case of membranous glomerulonephritis who had complete remission with colchicine treatment in the course of familial Mediterranean fever.

  1. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  2. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  3. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2012-04-01

    A small proportion of cases seen in neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS), Parkinson\\'s disease and Alzheimer disease are familial. These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery.

  4. Familial Mediterranean fever in two Bedouin families: mutation analysis and disease severity.

    Science.gov (United States)

    Press, J; Shinar, Y; Langevitz, P; Livneh, A; Pras, M; Buskila, D

    2000-06-05

    Familial Mediterranean fever (FMF) is an autosomal recessive disease prevalent among non-Ashkenazi Jews, Armenians, Arabs, and Turks. The Bedouin are nomad Arab tribes residing in desert margins of the Middle East and Arabia. FMF is quite rare in Bedouins, and here we report on two Bedouin families from southern Israel suffering from this disorder. The MEFV mutations found in the Bedouin patients M694I, V726A, and E148Q are consistent with their Arab origin. The disease severity score showed a mild to moderate severity disease in six patients. The Bedouins, leading a unique nomadic life, may prove instrumental in unraveling the role of environmental factors in the course and severity of FMF.

  5. Anesthesia experience along with familial Mediterranean fever and celiac disease

    OpenAIRE

    Mehmet Sargın; Hale Borazan; Gülçin Hacıbeyoğlu; Şeref Otelcioğlu

    2015-01-01

    (Anesthetic management in patient with Familial Mediterranean Fever and Celiac Disease) Familial Mediterranean Fever is an autosomal recessive transmitted disease which often seen at Mediterranean origin society and it goes by deterioration at inflammation control. Celiac disease is a proximal small intestine disease which develops gluten intolerance by autoimmune mechanism in sensitive people. Association of Familial Mediterranean Fever and Celiac disease is a rare situation. In this art...

  6. Waterfowl disease conference report : 1980

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — A Waterfowl Disease Conference was held in Denver the fall of 1980 to develop a better program for dealing with waterfowl disease problems. Most of the report dealt...

  7. Familial mediterranean fever in an Iranian patient with behcet disease.

    Science.gov (United States)

    Mobini, Maryam

    2011-01-01

    Familial Mediterranean fever (FMF) is the most prevalent disorder among the hereditary autoinflammatory syndromes. This disorder is characterized by fever and some painful attacks such as abdominal, chest or joint pain and potentially development of AA amyloidosis. Several vasculitis are more common in FMF than general population. There are some reports about association of FMF with Behcet Disease (BD). In this study, we describe a 27 year old patient with BD who suffered from attacks of fever, arthralgia, abdominal pain and genetic study confirmed the diagnosis of FMF. FMF should be considered in a patient with Behcet disease who is suffering from attacks of fever, arthralgia and abdominal pain.

  8. Anesthesia experience along with familial Mediterranean fever and celiac disease

    Directory of Open Access Journals (Sweden)

    Mehmet Sargın

    2014-03-01

    Full Text Available (Anesthetic management in patient with Familial Mediterranean Fever and Celiac Disease Familial Mediterranean Fever is an autosomal recessive transmitted disease which often seen at Mediterranean origin society and it goes by deterioration at inflammation control. Celiac disease is a proximal small intestine disease which develops gluten intolerance by autoimmune mechanism in sensitive people. Association of Familial Mediterranean Fever and Celiac disease is a rare situation. In this article we present our anesthesia experience on a bilateral septic arthritis case who also have Familial Mediterranean Fever and Celiac disease association.

  9. Advocating for efforts to protect African children, families, and communities from the threat of infectious diseases: report of the First International African Vaccinology Conference.

    Science.gov (United States)

    Wiysonge, Charles Shey; Waggie, Zainab; Hawkridge, Anthony; Schoub, Barry; Madhi, Shabir Ahmed; Rees, Helen; Hussey, Gregory

    2016-01-01

    One means of improving healthcare workers' knowledge of and attitudes to vaccines is through running vaccine conferences which are accessible, affordable, and relevant to their everyday work. Various vaccinology conferences are held each year worldwide. These meetings focus heavily on basic science with much discussion about new developments in vaccines, and relatively little coverage of policy, advocacy, and communication issues. A negligible proportion of delegates at these conferences come from Africa, home to almost 40% of the global burden of vaccine-preventable diseases. To the best of our knowledge, no major vaccinology conference has ever been held on the African continent apart from World Health Organization (WHO) meetings. The content of the first International African Vaccinology Conference was planned to be different; to focus on the science, with a major part of discussions being on clinical, programmatic, policy, and advocacy issues. The conference was held in Cape Town, South Africa, from 8 to 11 November 2012. The theme of the conference was "Advocating for efforts to protect African children, families, and communities from the threat of infectious diseases". There were more than 550 registered participants from 55 countries (including 37 African countries). There were nine pre-conference workshops, ten plenary sessions, and 150 oral and poster presentations. The conference discussed the challenges to universal immunisation in Africa as well as the promotion of dialogue and communication on immunisation among all stakeholders. There was general acknowledgment that giant strides have been made in Africa since the global launch of the Expanded Programme on Immunisation in 1974. For example, there has been significant progress in introducing new and under-utilised vaccines; including hepatitis B, Haemophilus influenza type b, pneumococcal conjugate, rotavirus, meningococcal A conjugate, and human papillomavirus vaccines. In May 2012, African countries

  10. Familial associations of lymphoma and myeloma with autoimmune diseases.

    Science.gov (United States)

    Hemminki, K; Försti, A; Sundquist, K; Sundquist, J; Li, X

    2017-01-06

    Many B-cell neoplasms are associated with autoimmune diseases (AIDs) but most evidence is based on a personal rather than a family history of AIDs. Here we calculated risks for non-Hodgkin lymphoma (NHL), Hodgkin lymphoma (HL) and multiple myeloma (MM) when family members were diagnosed with any of 44 different AIDs, or, independently, risk for AIDs when family members were diagnosed with a neoplasm. A total of 64 418 neoplasms and 531 155 AIDs were identified from Swedish nationwide health care records. NHL was associated with a family history of five AIDs, all increasing the risk, HL was associated with one AID increasing and three AIDs decreasing the risk while MM had no association. A family history of NHL was associated with eight, HL with seven and MM with seven different AIDs, nine increasing and 13 decreasing the risk. The present family data on B-cell neoplasms and AIDs show an approximately equal number of associations for risk increase and risk decrease, suggesting that inherited genes or gene-environment interactions may increase the risk or be protective. These results differed from published data on personal history of AID, which only report increased risks, often vastly higher and for different AIDs compared with the present data.

  11. The Olig family affects central nervous system development and disease

    Institute of Scientific and Technical Information of China (English)

    Botao Tan; Jing Yu; Ying Yin; Gongwei Jia; Wei Jiang; Lehua Yu

    2014-01-01

    Neural cell differentiation and maturation is a critical step during central nervous system devel-opment. The oligodendrocyte transcription family (Olig family) is known to be an important factor in regulating neural cell differentiation. Because of this, the Olig family also affects acute and chronic central nervous system diseases, including brain injury, multiple sclerosis, and even gliomas. Improved understanding about the functions of the Olig family in central nervous system development and disease will greatly aid novel breakthroughs in central nervous system diseases. This review investigates the role of the Olig family in central nervous system develop-ment and related diseases.

  12. Familial deletion 18p syndrome: case report

    Directory of Open Access Journals (Sweden)

    Lemyre Emmanuelle

    2006-07-01

    Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

  13. Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

    Directory of Open Access Journals (Sweden)

    Leila El Matri

    2013-01-01

    Full Text Available Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease.

  14. [McArdle's disease (a familial case)].

    Science.gov (United States)

    Shevchenko, A M

    1976-01-01

    The author describes a family (48 year old mother and 15 year old son) with the muscular variant of glycogenosis-McArde's metabolic myopathy. The mother has been ill since 22 years old, the son--since 7. The disease had a slowly progressive development. The clinical picture was characterized by convulsions of the type of cramps following physical loadings on muscles of the body and extremities. Convulsions were accompanied by pain, an induration and enlargment of the muscles, muscle fatigue and increased significantly in an artifical ischemia of the extremities. A histochemical study of the muscle revealed a pathological accumulation of glycogen. The content of lactic and pyruvic acid in the blood after work in ischemic conditions did not change significantly. A study of the sugar curve in the blood with a loading with glucose and a parallel determination of insulin by a radioimmune method found hyperinsulinemia and a dysfunction of the pancreas.

  15. Gaucher disease in a family from Maranhão

    Directory of Open Access Journals (Sweden)

    Samira Shizuko Parreão Oi

    2014-10-01

    Full Text Available Background: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. Objective: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. Methods: This was an observational, retrospective and prospective, descriptive case study about the efficacy of enzyme replacement therapy. Results: The results showed that women were more affected (80% of patients by the disease, age at diagnosis ranged from 24 to 33 years, the predominant ethnicity was mulatto (80% and all cases were classified as type 1. The diagnosis of these patients was performed by measuring the levels of glucocerebrosidase and chitotriosidase enzymes and confirmed by genotyping. All patients suffering from Gaucher disease had low glucocerebrosidase levels. Before replacement therapy, hepatosplenomegaly was the most common clinical manifestation (100% and osteopenia was seen in 80% of the cases. Regarding hematological manifestations, anemia and leukopenia were found in 40% of patients at diagnosis; however the hemoglobin and leukocyte levels were normalized after four years of therapy. Thrombocytopenia, observed in 20% of cases, was normalized after the second year of treatment. Conclusion: In these cases, despite gaps in the treatment as the family resides in the rural region of the state, the patients with Gaucher disease showed satisfactory therapeutic response over time.

  16. Spondylodiscitis in familial dysautonomia: a case report.

    Science.gov (United States)

    Ghermandi, R; Mesfin, A; Terzi, S; Colangeli, S; Zamparini, E; Gasbarrini, A

    2014-01-01

    Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal problems include: spinal deformities, foot deformities, fractures and arthopathies. In this article we review a case of a 34 years old male of non-Jewish origin affected by FD presenting L2-L3 kyphosis and inability to walk due to chronic L2-L3 spondylodiscitis not surgically treated 14 years before as acute disease. De novo spondylodiscitis affecting patients presenting FD and its subsequent management was not previously described in the literature.

  17. Familial gingival fibromatosis: A rare case report

    Directory of Open Access Journals (Sweden)

    Shweta Sharma

    2012-01-01

    Full Text Available Hereditary gingival fibromatosis is a rare condition that can occur as an isolated disease or as part of a syndrome or chromosomal abnormality. In severe cases, the gingival enlargement may cover the crowns of teeth and cause severe functional and aesthetic concerns. Here, we present a case of an 8-year-old girl with severe enlargement of gums in maxilla and mandible. Both deciduous and permanent teeth were not erupted in the oral cavity at all. Mutation in the Son-of-Sevenless (SOS-1 gene has been associated with the disease. The diagnosis was made based on clinical examination and family history. Surgical removal of the hyperplastic tissue was performed under general anesthesia.

  18. Family Aggregation of Human T-Lymphotropic Virus 1-Associated Diseases: A Systematic Review

    Science.gov (United States)

    Alvarez, Carolina; Gotuzzo, Eduardo; Vandamme, Anne-Mieke; Verdonck, Kristien

    2016-01-01

    Human T-lymphotropic virus 1 (HTLV-1) is a retrovirus that produces a persistent infection. Two transmission routes (from mother to child and via sexual intercourse) favor familial clustering of HTLV-1. It is yet unknown why most HTLV-1 carriers remain asymptomatic while about 10% of them develop complications. HTLV-1 associated diseases were originally described as sporadic entities, but familial presentations have been reported. To explore what is known about family aggregation of HTLV-1-associated diseases we undertook a systematic review. We aimed at answering whether, when, and where family aggregation of HTLV-1-associated diseases was reported, which relatives were affected and which hypotheses were proposed to explain aggregation. We searched MEDLINE, abstract books of HTLV conferences and reference lists of selected papers. Search terms used referred to HTLV-1 infection, and HTLV-1-associated diseases, and family studies. HTLV-1-associated diseases considered are adult T-cell leukemia/lymphoma (ATLL), HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), HTLV-1-associated uveitis, and infective dermatitis. Seventy-four records reported HTLV-1-associated diseases in more than one member of the same family and were included. Most reports came from HTLV-1-endemic countries, mainly Japan (n = 30) and Brazil (n = 10). These reports described a total of 270 families in which more than one relative had HTLV-1-associated diseases. In most families, different family members suffered from the same disease (n = 223). The diseases most frequently reported were ATLL (115 families) and HAM/TSP (102 families). Most families (n = 144) included two to four affected individuals. The proportion of ATLL patients with family history of ATLL ranged from 2 to 26%. The proportion of HAM/TSP patients with family history of HAM/TSP ranged from 1 to 48%. The predominant cluster types for ATLL were clusters of siblings and parent-child pairs and for HAM/TSP, an affected

  19. Hippocampal hyperactivation in presymptomatic familial Alzheimer's disease.

    Science.gov (United States)

    Quiroz, Yakeel T; Budson, Andrew E; Celone, Kim; Ruiz, Adriana; Newmark, Randall; Castrillón, Gabriel; Lopera, Francisco; Stern, Chantal E

    2010-12-01

    The examination of individuals who carry fully penetrant genetic alterations that result in familial Alzheimer's disease (FAD) provides a unique model for studying the early presymptomatic disease stages. In AD, deficits in episodic and associative memory have been linked to structural and functional changes within the hippocampal system. This study used functional MRI (fMRI) to examine hippocampal function in a group of healthy, young, cognitively-intact presymptomatic individuals (average age 33.7 years) who carry the E280A presenilin-1 (PS1) genetic mutation for FAD. These PS1 subjects will go on to develop the first symptoms of the disease around the age of 45 years. Our objective was to examine hippocampal function years before the onset of clinical symptoms. Twenty carriers of the Alzheimer's-associated E280A PS1 mutation and 19 PS1-negative control subjects participated. Both groups were matched for age, sex, education level, and neuropsychological test performance. All participants performed a face-name associative encoding task while in a Phillips 1.5T fMRI scanner. Analysis focused on the hippocampal system. Despite identical behavioral performance, presymptomatic PS1 mutation carriers exhibited increased activation of the right anterior hippocampus during encoding of novel face-name associations compared to matched controls. Our results demonstrate that functional changes within the hippocampal memory system occur years before cognitive decline in FAD. These presymptomatic changes in hippocampal physiology in FAD suggest that hippocampal fMRI patterns during associative encoding may also provide a preclinical biomarker in sporadic AD.

  20. [Update in family medicine: Periodontal disease].

    Science.gov (United States)

    López Silva, M C; Diz-Iglesias, P; Seoane-Romero, J M; Quintas, V; Méndez-Brea, F; Varela-Centelles, P

    2017-03-01

    About 85-94% of the Spanish adults older than 35 experience gum problems, and about 15-30% suffer from periodontitis, being severe in up to 5-11% of them. Unlike other inflammatory conditions, periodontal disease rarely causes discomfort, or limits life or causes functional limitations until its advanced stages, when clinical signs and symptoms arise (gingival recession, pathological teeth migration, or mobility). Lack of knowledge about the disease, together with the idea that tooth loss is linked to ageing, frequently results in a late diagnosis, requiring extensive treatments with a worse prognosis. At Primary Care level, there is series of drugs have been related to periodontal disease (anticonvulsants, immunosuppressive drugs, and calcium channel blockers) as secondary effects, which vary as regards their frequency and severity depending of the amount of accumulated plaque. Stress and depression have also been reported to alter the immune response and to increase the inflammatory response as well as periodontal susceptibility. Certain systemic conditions, such as diabetes mellitus, cardiovascular disorders, respiratory diseases, as well as low-weight pre-term birth, have also been linked to periodontitis. Copyright © 2016 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  1. [Needs and expectations of Alzheimer's disease family caregivers].

    Science.gov (United States)

    Amieva, H; Rullier, L; Bouisson, J; Dartigues, J-F; Dubois, O; Salamon, R

    2012-06-01

    Family members of people suffering from Alzheimer's disease play a major role in providing daily life care for their relatives. Compared to non-caregivers, they present increased risks of mortality as well as psychological and physical co-morbidity. Altered relationships between caregivers and medical staff and dissatisfaction with the quality of help provided tend to increase the risk of depression and anxiety disorders among caregivers. The present study aimed at exploring the needs and expectations of family caregivers of patients with Alzheimer's disease who request medical assistance for their relatives. The present analysis is an ancillary study of a large multicentric controlled randomized study designed to assess the efficacy of three non-pharmacological treatments in Alzheimer's disease, in which 645 mild-to-moderate Alzheimer patients were enrolled. Needs and expectations of the caregivers were assessed with a French scale of patient expectations for medical consultation, the échelle d'attentes en matière de consultations (EAC), completed by caregivers during the inclusion visit. This scale consists in a self-administered 28-item questionnaire concerning four main needs: learning skills to improve daily life management of their relatives; information regarding the disease; improving caregivers' self-confidence; support to improve communication with their relatives. The ten items for which more than 40% of caregivers reported high or very high expectations referred to two main needs: information regarding the disease (treatment, prognosis…) and learning skills in order to improve daily life management of their relative. The predominance of such needs was observed whatever the relationship between the caregiver and the cared relative but seemed to be more pronounced in female spouses and children of patients with Alzheimer's disease. Needs and expectations of Alzheimer's disease family caregivers involve two major aspects: first, information regarding

  2. Chronic illness and family: impact of schizophrenia and Crohn's disease on the family quality of life.

    Science.gov (United States)

    Loga, Slobodan; Sošić, Bojan; Kulenović, Alma Džubur; Svraka, Emira; Bosankić, Nina; Kučukalić, Abdulah; Cemalović, Omer; Hadžić, Alma

    2012-12-01

    Quality of life assessments are increasingly present in health research. Chronic and progressive illness of a family member unavoidably affects quality of life of a family as a whole. The goals of this study were to gain insight into the family burden of chronic disorders, especially possible differences in family quality of life (FQOL) in families that have members suffering from either schizophrenia or Crohn's disease, and families in which none of the members have chronic somatic or mental illness, as well as to pilot an instrument for this purpose. The sample consisted of 53 families with a member suffering from schizophrenia, 50 families with a member suffering from Crohn's disease, and 45 families with no identifiable chronic illnesses. An informant from each family underwent a structured face to face interview, using a questionnaire specially adapted from Family Quality of Life Survey, an instrument widely used to assess FQOL in families with members with disabilities, and which addresses nine areas of family life. In the domain of health, both groups of families with chronic illnesses believe they have significantly different conditions when compared to members of the Control group. In the Crohn's disease group, families had a great deal more of challenges in accessing healthcare services; and see themselves at a disadvantage when compared to both other groups in the domain of finances. Control group offered lowest rating in the domain of support from others. Overall measures of FQOL show significant variation among the three groups, Crohn's disease group offering lowest ratings, followed by families of mental health service users. Overall, FQOL seems to be lower in families that have members diagnosed with Crohn's disease than in families with members suffering from schizophrenia. Illness-specific studies are required, as well as instruments with stronger psychometric properties and studies of determinants of FQOL. Qualitative approach should be emphasised

  3. Working to End Family Homelessness. Annual Report

    Science.gov (United States)

    National Center on Family Homelessness (NJ1), 2012

    2012-01-01

    The National Center on Family Homelessness is determined to end family homelessness. Sheltering families provides a temporary safe haven. Connecting families to permanent housing, essential services, and critical supports can change their lives forever. Through research the Center learns what families need to rebound from the housing, economic,…

  4. Family history assessment: impact on disease risk perceptions.

    Science.gov (United States)

    Wang, Catharine; Sen, Ananda; Ruffin, Mack T; Nease, Donald E; Gramling, Robert; Acheson, Louise S; O'Neill, Suzanne M; Rubinstein, Wendy S

    2012-10-01

    Family Healthware™, a tool developed by the CDC, is a self-administered web-based family history tool that assesses familial risk for six diseases (coronary heart disease; stroke; diabetes; and colon, breast, and ovarian cancers) and provides personalized prevention messages based on risk. The Family Healthware Impact Trial (FHITr) set out to examine the clinical utility of presenting personalized preventive messages tailored to family history risk for improving health behaviors. The purpose of this study was to examine the impact of Family Healthware on modifying disease risk perceptions, particularly among those who initially underestimated their risk for certain diseases. A total of 3786 patients were enrolled in a cluster-randomized trial to evaluate the clinical utility of Family Healthware. Participants were recruited from 41 primary care practices among 13 states between 2005 and 2007. Perceived risk for each disease was assessed at baseline and 6-month follow-up using a single-item comparative risk question. Analyses were completed in March 2012. Compared to controls, Family Healthware increased risk perceptions among those who underestimated their risk for heart disease (15% vs 9%, prisk perceptions. Family Healthware was effective at increasing disease risk perceptions, particularly for metabolic conditions, among those who underestimated their risk. Results from this study also demonstrate the relatively resistant nature of risk perceptions. This study is registered at clinicaltrials.govNCT00164658. Copyright © 2012 American Journal of Preventive Medicine. All rights reserved.

  5. High prevalence of diabetes mellitus in a five-generation Chinese family with Huntington's disease.

    Science.gov (United States)

    Hu, Yueqing; Liang, Jingyao; Yu, Shengyuan

    2014-01-01

    Huntington's disease (HD) is associated with diabetes mellitus (DM) in population studies, but no case has been reported in a large HD family. We report a case of a five-generation Chinese family who is afflicted by both HD and DM. The prevalence of DM in HD of this family was high (72.7%). The diagnosis of HD in 11 family members was confirmed by the genetic test of the proband who had 42 CAG repeats. Furthermore, the proband's daughter had abnormal locus at G3460T in MT-ND1 among mtDNA genome. Our case report suggests a genetic link between HD and DM.

  6. Dock protein family in brain development and neurological disease.

    Science.gov (United States)

    Shi, Lei

    2013-11-01

    The family of dedicator of cytokinesis (Dock), a protein family that belongs to the atypical Rho guanine nucleotide exchange factors (GEFs) for Rac and/or Cdc42 GTPases, plays pivotal roles in various processes of brain development. To date, 11 members of Docks have been identified in the mammalian system. Emerging evidence has suggested that members of the Dock family are associated with several neurodegenerative and neuropsychiatric diseases, including Alzheimer disease and autism spectrum disorders. This review summarizes recent advances on the understanding of the roles of the Dock protein family in normal and diseased processes in the nervous system. Furthermore, interacting proteins and the molecular regulation of Docks are discussed.

  7. Von Willebrand's Disease in Two Families of Doberman Pinschers

    OpenAIRE

    Johnstone, I B; Crane, S

    1981-01-01

    The history, clinical symptoms and laboratory results in two families of Doberman pinschers with von Willebrand's disease are described. The affected animals illustrate the rather nonspecific bleeding problems that may be encountered in mild and moderate forms of this disease. In both families a bleeding diathesis was suspected when one member of the family underwent surgery with serious postoperative bleeding complications. These cases illustrate the importance of a thorough presurgical hist...

  8. World Family Map Project. Prototype Report

    Science.gov (United States)

    Wilcox, W. Bradford; Lippman, Laura; Whitney, Camille

    2009-01-01

    In 2010, the "World Family Map Project" seeks to launch a research initiative that will track central indicators of family strength around the globe. The "World Family Map Project" (WFMP) would partner with Child Trends, a nonpartisan research organization in Washington, D.C., the Institute of Marriage and Family Canada, and…

  9. World Family Map Project. Prototype Report

    Science.gov (United States)

    Wilcox, W. Bradford; Lippman, Laura; Whitney, Camille

    2009-01-01

    In 2010, the "World Family Map Project" seeks to launch a research initiative that will track central indicators of family strength around the globe. The "World Family Map Project" (WFMP) would partner with Child Trends, a nonpartisan research organization in Washington, D.C., the Institute of Marriage and Family Canada, and research organizations…

  10. A familial concurrence of schizophrenia and Gaucher's disease

    Directory of Open Access Journals (Sweden)

    Siomos Konstantinos E

    2007-12-01

    Full Text Available Abstract Background Gaucher's disease (GD is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. Methods Presentation of a family with two siblings with Gaucher's disease. Results In a six-member family, the first son suffers from schizophrenia, while the third and fourth sons suffer from the Gaucher's disease (type 1 non-neuronopathic. The parents and the second son do not suffer from either illness. Conclusion The concurrence of schizophrenia and Gaucher's disease in the same family is an unusual phenomenon. The literature regarding this coincidence is limited, despite the fact that patients with Gaucher's disease have one or two mutated alleles, considered to be a risk factor leading to conditions such as Dementia, Parkinson's disease and schizophrenia.

  11. Infantile refsum disease: case report.

    Science.gov (United States)

    Choksi, Vaishali; Hoeffner, Ellen; Karaarslan, Ercan; Yalcinkaya, Cengiz; Cakirer, Sinan

    2003-01-01

    Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies.

  12. Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

    Science.gov (United States)

    He, Ya-Chao; Huang, Pei; Li, Qiong-Qiong; Sun, Qian; Li, Dun-Hui; Wang, Tian; Shen, Jun-Yi; Du, Juan-Juan; Cui, Shi-Shuang; Gao, Chao; Fu, Rao; Chen, Sheng-Di

    2017-01-01

    Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that HTRA2 p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition of HTRA2 gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor. Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. HTRA2 exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, and HTRA2 may not be the cause of familial Parkinson's disease and essential tremor in China.

  13. Familial risk of inflammatory bowel disease

    DEFF Research Database (Denmark)

    Trier Møller, Frederik; Andersen, Vibeke; Jess, Tine;

    2014-01-01

    in the entire population. Individuals receiving at least 2 diagnoses of IBD during the time period (n=45,780) were identified using the Danish National Registry of Patients. Risk of IBD in family members to individuals with IBD was assessed by Poisson regression analysis. Results: The overall proportion...... of familial CD cases was 12,15 percent of total CD cases and familial UC accounted for and 8,84 percent of total UC cases from 2007-2011. Patterns of IBD risk in family members to IBD-affected individuals appear from Table 1. The risk of CD was 9-fold increased in 1. degree relatives to at least two...... of the same but also the other subtype of IBD, whereas the risk of IBD was less pronounced in third degree relatives to individuals with IBD. Table 1 Rate ratio RR (95% CI) of contracting CD in family members to an IBD affected case, as compared to having a relative of the same type without a diagnosis of IBD...

  14. Mal de Meleda: A Report of Two Cases In One Family

    Directory of Open Access Journals (Sweden)

    M.Kantor

    2006-08-01

    Full Text Available Mal de Meleda is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma, lichenoid skin lesions, perioral erythema, brachydactyly and nail abnormalities. We are reporting two cases of a clinically typical disease in a family. No consanguineous relationship between the parents was known and cases could not be detected in three generations of the patient's family.

  15. Familial myasthenia gravis: report of four cases Miastenia grave familial: registro de quatro casos

    Directory of Open Access Journals (Sweden)

    José Lamartine de Assis

    1976-09-01

    Full Text Available Two pairs of siblings with myasthenia gravis, belonging to two different families, are reported. This is the only record of familial myasthenia during the past twenty years, in a total of 145 patients seen at the Neurological Clinic of the São Paulo Medical School. In spite of the fact that myasthenia gravis does not show hereditary characteristics, the peculiar features of the four cases justify the present report. The two pairs of siblings were born from non myasthenic nor consanguineous parents. The disease started at birth showing bilateral partial eyelid ptosis in all patients. The course of the illness has been favorable. There was no thymoma.Os autores registram dois pares de gêmeos com miastenia grave, pertencentes a duas famílias diferentes. Este é o único registro de miastenia familial durante os últimos 20 anos, num total de 145 pacientes examinados na Clínica Neurológica da FMUSP. Apesar do fato de a miastenia grave não ter características hereditárias, os aspectos peculiares dos quatro pacientes justificam o presente registro. Os dois pares de gêmeos nasceram de pais não miastênicos e sem consanguinidade. A doença iniciou-se no nascimento, evoluindo com ptose bilateral parcial da pálpebra superior precocemente em todos os pacientes. O curso da moléstia tem sido favorável. Não havia timoma.

  16. Coronary Heart Disease in Familial Hypercholesterolemia

    NARCIS (Netherlands)

    J. Versmissen (Jorie)

    2012-01-01

    textabstractFamilial hypercholesterolemia (FH) (OMIM #143890) is an autosomal dominant disorder present in 1:500 Caucasians. FH is caused by defective low-density lipoprotein (LDL) receptors, leading to a diminished uptake of LDL cholesterol by the liver. As a result, FH patients have high LDL chole

  17. Family and twin studies in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Leena Halme; Paulina Paavola-Sakki; Ulla Turunen; Maarit Lappalainen; Martti F(a)rkkil(a); Kimmo Kontula

    2006-01-01

    Studies examining the inheritance of inflammatory bowel disease (IBD) within different family groups have been the basis for recent molecular advances in the genetics of IBD. The derived heritability in Crohn's disease (CD) is higher than in many other complex diseases. The risk of IBD is highest in first-degree relatives of a CD proband,but first-degree relatives of a proband suffering from ulcerative colitis (UC) and more distant relatives are also at increased risk. Disease concordance rates in IBD have been examined in multiplex families and in three large European twin studies.

  18. Family Strengthening Research: FY2014. OPRE Report 2015-22

    Science.gov (United States)

    Administration for Children & Families, 2015

    2015-01-01

    This report provides detailed summaries of major research investments by OPRE's Division of Family Strengthening (DFS) along with brief overviews of past projects. The featured projects cover topics that include strengthening relationships within families, supporting fatherhood, nurturing children through their families, reducing teen pregnancy,…

  19. BEHСET'S DISEASE: ETHNOS AND FAMILIAL AGGREGATION

    Directory of Open Access Journals (Sweden)

    Z. S. Alekberova

    2016-01-01

    Full Text Available Familial aggregation (repeated cases of the disease in the families of probands is considered as an argument in favor of the genetic nature of Behсet's disease (BD. The results of a survey of 180 patients with BD in three ethnic groups indicated that there were repeated cases of recurrent aphthous stomatitis (RAS in 54 (30% families: more commonly among Dagestanis (n =32, less commonly in Chechens (n = 12 and Russians (10. Thus, the relatives of the RAS proband should be included in a group at risk for BD.

  20. Systematic Review of Self-Report Family Assessment Measures.

    Science.gov (United States)

    Hamilton, Elena; Carr, Alan

    2016-03-01

    A systematic review of self-report family assessment measures was conducted with reference to their psychometric properties, clinical utility and theoretical underpinnings. Eight instruments were reviewed: The McMaster Family Assessment Device (FAD); Circumplex Model Family Adaptability and Cohesion Evaluation Scales (FACES); Beavers Systems Model Self-Report Family Inventory (SFI); Family Assessment Measure III (FAM III); Family Environment Scale (FES); Family Relations Scale (FRS); and Systemic Therapy Inventory of Change (STIC); and the Systemic Clinical Outcome Routine Evaluation (SCORE). Results indicated that five family assessment measures are suitable for clinical use (FAD, FACES-IV, SFI, FAM III, SCORE), two are not (FES, FRS), and one is a new system currently under-going validation (STIC).

  1. Family caregivers' views on coordination of care in Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2015-01-01

    BACKGROUND: Collaboration between family caregivers and health professionals in specialised hospitals or community-based primary healthcare systems can be challenging. During the course of severe chronic disease, several health professionals might be involved at a given time, and the patient......'s illness may be unpredictable or not well understood by some of those involved in the treatment and care. AIM: The aim of this study was to explore the experiences and expectations of family caregivers for persons with Huntington's disease concerning collaboration with healthcare professionals. METHODS......: To shed light on collaboration from the perspectives of family caregivers, we conducted an explorative, qualitative interview study with 15 adult participants experienced from caring for family members in all stages of Huntington's disease. Data were analysed with systematic text condensation, a cross...

  2. Family history of Alzheimer’s disease limits improvement in cognitive function after bariatric surgery

    Directory of Open Access Journals (Sweden)

    Michael L Alosco

    2014-06-01

    Full Text Available Background/Objective: Bariatric surgery can reverse cognitive impairments associated with obesity. However, such benefits may be attenuated in individuals with a predisposing risk for cognitive impairment such as family history of Alzheimer’s disease. Methods: In all, 94 bariatric surgery participants completed a computerized cognitive test battery before and 12 weeks after surgery. Family history of Alzheimer’s disease was obtained through self-report. Results: In the overall sample, cognitive function improved in memory and attention/executive function 12 weeks post-surgery. Repeated measures showed similar rates of improvements in attention/executive function between patients with and without a family history of Alzheimer’s disease. In contrast, only individuals without a family history of Alzheimer’s disease exhibited post-operative improvements in memory. A family history of Alzheimer’s disease was associated with greater post-surgery rates of cognitive impairment. Conclusions: Family history of Alzheimer’s disease may limit post-surgery cognitive benefits. Future studies should examine whether weight loss can modify the course of cognitive decline in patients at-risk for Alzheimer’s disease.

  3. Phenotypical variation within 22 families with Pompe disease

    NARCIS (Netherlands)

    S.C.A. Wens (Stephan); C.M. Van Gelder (Carin); M.E. Kruijshaar (Michelle); J.M. de Vries (Juna); N.A.M.E. van der Beek (Nadine); A.J.J. Reuser (Arnold); P.A. van Doorn (Pieter); A.T. van der Ploeg (Ans); E. Brusse (Esther)

    2013-01-01

    textabstractBackground: Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same gen

  4. Wolman disease in patients with familial hemophagocytic ...

    African Journals Online (AJOL)

    Solaf Elsayed

    2015-09-26

    Sep 26, 2015 ... b CEDI, Hoˆpital Necker Enfants Malades, Paris, France ... function, neurological dysfunction and hemophagocytic cells ... sites or in association with lymphoma, autoimmune disease, ... the age of one month with a provisional diagnosis of FHL .... is not prominent and is associated with relatively huge.

  5. [Epidemic parotiditis, a reportable disease].

    Science.gov (United States)

    Boverhoff, J C; Baart, J A

    2013-01-01

    Three consecutive patients with an acute swelling of one of the cheeks, were diagnosed with epidemic parotiditis. The first phase of the diagnostic procedure for an acute cheek swelling is to eliminate the possibility of odontogenic causes. When odontogenic problems have been excluded, non-dentition-related causes may be considered. An acute, progressive swelling in the preauricular area can often be attributed to an inflammation of the parotid gland, but epidemic parotiditis should also be considered. Epidemic parotiditis, or mumps, is caused by the mumps virus. Contamination occurs aerogenically. In the Netherlands, mumps vaccine is an ingredient of the governmental combined mump-measles-rubella inoculation programme. However, in recent years several small-scale parotiditis epidemics have broken out, predominantly among young, inoculated adults. Oropharyngeal mucus and blood samples are needed to diagnose the disease. Each case of the disease should be reported to the community healthcare service.

  6. Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease.

    Science.gov (United States)

    Metyas, Samy K; Hoffman, Hal M

    2006-10-01

    Familial cold autoinflammatory syndrome (FCAS) is a rare, hereditary disorder characterized by cold-induced inflammation. We describe the successful longterm treatment of a patient with FCAS with anakinra, an interleukin 1 receptor antagonist (IL-1Ra). The remarkable response of FCAS and associated Raynaud's disease in this patient suggests that IL-1 is an important mediator of these inflammatory diseases. Our report supports increasing evidence that anakinra plays an important role in the treatment of select chronic inflammatory diseases.

  7. The impact of Juvenile Huntington's Disease on the family: the case of a rare childhood condition.

    Science.gov (United States)

    Brewer, Helen M; Eatough, Virginia; Smith, Jonathan A; Stanley, Cath A; Glendinning, Neil W; Quarrell, Oliver W J

    2008-01-01

    There has been little research into the impact of Juvenile Huntington's Disease (JHD) on the family, and the issues facing this group are poorly understood. The study reported here is part of larger project that aimed to address this. Ten semi-structured interviews with the main carer were carried out, and were analysed using Interpretative Phenomenological Analysis (IPA). This article reports three themes arising from the study relating to the psychosocial impact of JHD on the family: (1) dealing with something so different; (2) lack of understanding (3) isolation. This information is useful in developing appropriate services for families affected by JHD, as well as being of relevance to other childhood conditions.

  8. Aluminium in brain tissue in familial Alzheimer’s disease

    OpenAIRE

    Mirza, A; King, A.; Troakes, C.; Exley, C

    2016-01-01

    The genetic predispositions which describe a diagnosis of familial Alzheimer’s disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer’s disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to aluminium and a...

  9. Aluminium in brain tissue in familial Alzheimer’s disease

    OpenAIRE

    2016-01-01

    Abstract The genetic predispositions which describe a diagnosis of familial Alzheimer’s disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer’s disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to alumin...

  10. Familial migraine: Exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p

    Energy Technology Data Exchange (ETDEWEB)

    Hovatta, I.; Peltonen, L. [National Public Health Institute, Helsinki (Finland); Kallela, M.; Faerkkilae, M. [Helsinki Univ. Central Hospital (Finland)

    1994-10-01

    Genetic isolates are highly useful in analyses of the molecular background of complex diseases since the enrichment of a limited number of predisposing genes can be predicted in representative families or in specific geographical regions. It has been suggested that the pathophysiology and etiology of familial hemiplegic migraine (FHM) and typical migraine with aura are most probably the same. Recent assignment of FHM locus to chromosome 19p in two French families makes it now possible to test this hypothesis. We report here linkage data on four families with multiple cases of migraine disorder originating from the genetically isolated population of Finland. We were interested to discover whether the migraine in these families would also show linkage to the markers on 19p. We could exclude a region of 50 cM, flanking the reported FHM locus, as a site of migraine locus in our four families. It seems evident that locus heterogeneity exists between different diagnostic classes of migraine spectrum of diseases and also between different ethnic groups. 10 refs., 2 figs., 1 tab.

  11. Instruments measuring the disease-specific quality of life of family carers of people with neurodegenerative diseases: a systematic review

    Science.gov (United States)

    Page, Thomas E; Farina, Nicolas; Brown, Anna; Daley, Stephanie; Bowling, Ann; Basset, Thurstine; Livingston, Gill; Knapp, Martin; Murray, Joanna; Banerjee, Sube

    2017-01-01

    Objective Neurodegenerative diseases, such as dementia, have a profound impact on those with the conditions and their family carers. Consequently, the accurate measurement of family carers' quality of life (QOL) is important. Generic measures may miss key elements of the impact of these conditions, so using disease-specific instruments has been advocated. This systematic review aimed to identify and examine the psychometric properties of disease-specific outcome measures of QOL of family carers of people with neurodegenerative diseases (Alzheimer's disease and other dementias; Huntington's disease; Parkinson's disease; multiple sclerosis; and motor neuron disease). Design Systematic review. Methods Instruments were identified using 5 electronic databases (PubMed, PsycINFO, Web of Science, Scopus and the International Bibliography of the Social Sciences (IBSS)) and lateral search techniques. Only studies which reported the development and/or validation of a disease-specific measure for adult family carers, and which were written in English, were eligible for inclusion. The methodological quality of the included studies was evaluated using the COnsensus based Standards for the selection of health Measurement Instruments (COSMIN) checklist. The psychometric properties of each instrument were examined. Results 676 articles were identified. Following screening and lateral searches, a total of 8 articles were included; these reported 7 disease-specific carer QOL measures. Limited evidence was available for the psychometric properties of the 7 instruments. Psychometric analyses were mainly focused on internal consistency, reliability and construct validity. None of the measures assessed either criterion validity or responsiveness to change. Conclusions There are very few measures of carer QOL that are specific to particular neurodegenerative diseases. The findings of this review emphasise the importance of developing and validating psychometrically robust disease

  12. Type 2 Gaucher's disease in a Malian family

    African Journals Online (AJOL)

    We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the ... neurologic symptoms, three clinical varieties ... an acute brainstem dysfunction or ... diarrhea and constipation.

  13. A family study of the biochemical defects in Wilson's disease.

    Science.gov (United States)

    Soothill, J F; Blainey, J D; Neale, F C; Fischer-Williams, M; Melnick, S C

    1961-05-01

    Estimations of serum copper, serum ceruloplasmin (immunochemical), and urinary amino-acids excretion (quantitative and chromatographic) in 44 healthy relatives of patients with Wilson's disease (39 from one family) are reported. Each technique revealed some abnormal individuals. Good agreement was obtained between the serum copper and serum ceruloplasmin estimations and between the quantitative and chromatographic estimations of amino-acid excretion. Some individuals were abnormal to one or other of the pairs of tests only. These results cast doubt on the hypothesis that the symptoms of Wilson's disease are secondary to a quantitative (or qualitative) abnormality of ceruloplasmin. They also suggest that the mode of inheritance of the biochemical defects may be more complicated than that of a simple recessive mutant gene. Two of the relatives (one pregnant and one immediately post-partum) had a high serum copper level, as is expected in pregnancy, but normal serum ceruloplasmin. This suggests that the mechanism of control of the serum ceruloplasmin concentration may, normally, depend on the serum copper concentration.

  14. Report on financing the new model of family medicine.

    Science.gov (United States)

    Spann, Stephen J

    2004-12-02

    To foster redesigning the work and workplaces of family physicians, this Future of Family Medicine task force was created to formulate and recommend a financial model that sustains and promotes a thriving New Model of care by focusing on practice reimbursement and health care finances. The goals of the task force were to develop a financial model that assesses the impact of the New Model on practice finances, and to recommend health care financial policies that, if implemented, would be expected to promote the New Model and the primary medical care function in the United States for the next few decades. The members of the task force reflected a wide range of professional backgrounds and expertise. The group met in person on 2 occasions and communicated by e-mail and conference calls to achieve consensus. A marketing study was carried out using focus groups to test the concept of the New Model with consumers. External consultants with expertise in health economics, health care finance, health policy, and practice management were engaged to assist the task force with developing the microeconomic (practice level) and macroeconomic (societal level) financial models necessary to achieve its goals. Model assumptions were derived from the published medical literature, existing practice management databases, and discussions with experienced physicians and other content experts. The results of the financial modeling exercise are included in this report. The initial draft report of the findings and recommendations was shared with a reactor panel representing a broad spectrum of constituencies. Feedback from these individuals was reviewed and incorporated, as appropriate, into the final report. The practice-level financial model suggests that full implementation of the New Model of care within the current fee-for-service system of reimbursement would result in a 26% increase in compensation (from 167,457 dollars to 210,288 dollars total annual compensation) for prototypical

  15. The novel interleukin-1 cytokine family members in inflammatory diseases.

    Science.gov (United States)

    Hahn, Madelaine; Frey, Silke; Hueber, Axel J

    2017-03-01

    This review provides an update on the new interleukin-1 (IL-1) cytokine family members in inflammatory diseases with focus on recent findings concerning the family members IL-36, IL-37, and IL-38 and their different expression patterns. The IL-1 cytokines are known to be involved in many different inflammatory and autoimmune diseases. The latest IL-1 family members, IL-36, IL-37, and IL-38 have been shown to be differently regulated during course of disease. Studies of patients suffering from inflammatory diseases revealed that those cytokines are upregulated in the serum as well as in inflamed tissue. Both, epithelial cells and infiltrating peripheral mononuclear blood cells serve as source of the cytokines IL-36, IL-37, and IL-38 triggering different outcomes. These results could be confirmed in different mouse models and in-vitro and ex-vivo studies. IL-36, IL-37, and IL-38 are involved in the pathogenesis of the inflammatory diseases psoriasis, rheumatoid arthritis, gout, systemic lupus erythematosus as well as Crohn's disease. Thereby IL-36 acts proinflammatory triggering further inflammatory mediators. In contrast, IL-37 and IL-38 are upregulated to counteract. Understanding the imbalance of the IL-1 family is crucial for future therapeutics.

  16. Familial prion diseases in the Basque Country (Spain).

    Science.gov (United States)

    Zarranz, Juan J; Digon, Anton; Atarés, Begoña; Arteagoitia, José M; Carrera, Nieves; Fernández-Manchola, Iñaki; Fernández-Martínez, Manuel; Fernández-Maiztegui, Covadonga; Forcadas, Isabel; Galdos, Luis; Ibáñez, Agustín; Lezcano, Elena; Martí-Massó, José F; Mendibe, María M; Urtasun, Miguel; Uterga, Juan M; Saracibar, Nieves; Velasco, Fernando; González de Galdeano, Luis

    2005-01-01

    In 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the period from January 1993 to December 2003, we diagnosed 21 patients with familial prion diseases prospectively and another 4 patients retrospectively. They represent 35% of all the cases referred to the epidemiological registry. Two main possible explanations for this unusual high incidence of familial prion diseases are proposed: first, comprehensive case ascertainment by public health neurologists; second, a probable cluster of the D178N mutation within families of Basque origin related to a still unconfirmed common ancestor. Further genetic and genealogical studies should resolve this issue.

  17. Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.

    Science.gov (United States)

    Rusina, Robert; Fiala, Jindřich; Holada, Karel; Matějčková, Milada; Nováková, Jana; Ampapa, Radek; Koukolík, František; Matěj, Radoslav

    2013-01-01

    Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.

  18. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2017. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  19. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2016. In this Table, provisional* cases of selected†infrequently reported notifiable diseases...

  20. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2014.In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  1. NNDSS - Table I. infrequently reported notifiable diseases

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2015. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...

  2. Familial associations of lymphoma and myeloma with autoimmune diseases

    OpenAIRE

    Hemminki, K; Försti, A; Sundquist, K.; Sundquist, J.; Li, X

    2017-01-01

    Many B-cell neoplasms are associated with autoimmune diseases (AIDs) but most evidence is based on a personal rather than a family history of AIDs. Here we calculated risks for non-Hodgkin lymphoma (NHL), Hodgkin lymphoma (HL) and multiple myeloma (MM) when family members were diagnosed with any of 44 different AIDs, or, independently, risk for AIDs when family members were diagnosed with a neoplasm. A total of 64 418 neoplasms and 531 155 AIDs were identified from Swedish nationwide health c...

  3. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

    Science.gov (United States)

    Nichols, W C; Pankratz, N; Marek, D K; Pauciulo, M W; Elsaesser, V E; Halter, C A; Rudolph, A; Wojcieszek, J; Pfeiffer, R F; Foroud, T

    2009-01-27

    To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased the risk for PD and were associated with an earlier onset of disease. We performed a comprehensive study of all GBA exons in one patient with PD from each of 96 PD families, selected based on the family-specific lod scores at the GBA locus. Identified GBA variants were subsequently screened in all 1325 PD cases from 566 multiplex PD families and in 359 controls. Nine different GBA variants, five previously reported, were identified in 21 of the 96 PD cases sequenced. Screening for these variants in the full sample identified 161 variant carriers (12.2%) in 99 different PD families. An unbiased estimate of the frequency of the five previously reported GBA variants in the familial PD sample was 12.6% and in the control sample was 5.3% (odds ratio 2.6; 95% confidence interval 1.5-4.4). Presence of a GBA variant was associated with an earlier age at onset (p = 0.0001). On average, those patients carrying a GBA variant had onset with PD 6.04 years earlier than those without a GBA variant. This study suggests that GBA is a susceptibility gene for familial Parkinson disease (PD) and patients with GBA variants have an earlier age at onset than patients with PD without GBA variants.

  4. Phenotypic commonalities in familial and sporadic Parkinson disease.

    Science.gov (United States)

    Baba, Yasuhiko; Markopoulou, Katerina; Putzke, John D; Whaley, Nathaniel R; Farrer, Matthew J; Wszolek, Zbigniew K; Uitti, Ryan J

    2006-04-01

    Parkinson disease (PD) is a clinically well-documented neurodegenerative disorder. However, the mechanism or mechanisms of its phenotypic expressions are still unknown. To compare phenotypes by examining demographic and clinical features of patients with familial PD and sporadic PD and with or without a family history of PD. Historical review of patients with sporadic PD in clinic-based samples and individual patients diagnosed with PD from families whose linkage to mutations or loci has been identified. Movement disorder clinic in a referral center. A total of 1277 patients with sporadic PD and 40 patients with familial PD. Clinical features, including distribution by sex, initial motor symptom, location of initial motor symptom, and frequency of asymmetric motor symptoms. Despite different etiologic backgrounds, both familial and sporadic PD exhibited several interesting commonalities, including a higher incidence in men, tremor as the initial motor symptom (predominantly involving the upper extremities), and asymmetric parkinsonism during disease course. The increased incidence of parkinsonism in men with familial PD suggests that the sex disparity is more likely the result of a protective effect against development of PD in women than of an increased risk in men that is associated with environmental factors. Phenotypic similarity among familial and sporadic PD indicates that a similar topographic distribution of the nigrostriatal lesion exists in patients with either form of PD regardless of apparent genetic influence.

  5. Aluminium in brain tissue in familial Alzheimer's disease.

    Science.gov (United States)

    Mirza, Ambreen; King, Andrew; Troakes, Claire; Exley, Christopher

    2017-03-01

    The genetic predispositions which describe a diagnosis of familial Alzheimer's disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer's disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to aluminium and aluminium has been shown to be present in brain tissue in sporadic Alzheimer's disease. We have made the first ever measurements of aluminium in brain tissue from 12 donors diagnosed with familial Alzheimer's disease. The concentrations of aluminium were extremely high, for example, there were values in excess of 10μg/g tissue dry wt. in 5 of the 12 individuals. Overall, the concentrations were higher than all previous measurements of brain aluminium except cases of known aluminium-induced encephalopathy. We have supported our quantitative analyses using a novel method of aluminium-selective fluorescence microscopy to visualise aluminium in all lobes of every brain investigated. The unique quantitative data and the stunning images of aluminium in familial Alzheimer's disease brain tissue raise the spectre of aluminium's role in this devastating disease. Copyright © 2016 The Authors. Published by Elsevier GmbH.. All rights reserved.

  6. The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease.

    Science.gov (United States)

    Netter, Patrick; Bardin, Thomas; Bianchi, Arnaud; Richette, Pascal; Loeuille, Damien

    2004-09-01

    Familial calcium pyrophosphate dihydrate deposition (CPPD) disease is a chronic condition in which CPPD microcrystals deposit in the joint fluid, cartilage, and periarticular tissues. Two forms of familial CPPD disease have been identified: CCAL1 and CCAL2. The CCAL1 locus is located on the long arm of chromosome 8 and is associated with CPPD and severe osteoarthritis. The CCAL2 locus has been mapped to the short arm of chromosome 5 and identified in families from the Alsace region of France and the United Kingdom. The ANKH protein is involved in pyrophosphate metabolism and, more specifically, in pyrophosphate transport from the intracellular to the extracellular compartment. Numerous ANKH gene mutations cause familial CCAL2; they enhance ANKH protein activity, thereby elevating extracellular pyrophosphate levels and promoting the formation of pyrophosphate crystals, which produce the manifestations of the disease. Recent studies show that growth factors and cytokines can modify the expression of the normal ANKH protein. These results suggest a role for ANKH in sporadic CPPD disease and in CPPD associated with degenerative disease.

  7. Dentinogenesis Inperfecta. Report of three cases in an Indian family.

    Science.gov (United States)

    Raji, M A; Vargheese, N O; Grorge, K

    1993-01-01

    An Indian family with Type II Dentinogenesis Imperfecta is reported in which the pedigree was traced through four generations. Clinical and radiological examination was done in three individuals in the family studied, which showed variation in expression of colour and attrition. No clinical evidence of Osteogenesis Imperfecta was noted in any of the family members. Theoretical considerations regarding the development of this disorder and its clinical features are presented.

  8. Cleido cranial dysplasia: report of a family.

    Science.gov (United States)

    González López, Blanca Silvia; Ortiz Solalinde, Clara; Kubodera Ito, Toshio; Lara Carrillo, Edith; Ortiz Solalinde, Estela

    2004-12-01

    A family case of Cleidocranial Dysplasia is presented. A mother and two adolescent girls were examined. In all three cases, a radiological series was performed over the entire body. Generalized dysplasia in bones, prolonged retention of primary teeth, and delayed eruption of permanent, as well as supernumerary teeth was diagnosed. The citogenetic study with GTG band showed normal 46, XX. Bilateral audiometry in the mother demonstrated a mild to moderate hypoacustic condition. Radiological findings are presented and the importance of early diagnosis is discussed.

  9. Familial Hypokalemic Periodic Paralysis: A Case Report

    Directory of Open Access Journals (Sweden)

    Semih KORKUT, Hayati KANDİŞ, Harun GÜNEŞ, Esin KORKUT

    2010-11-01

    Full Text Available Familial hypokalemic periodic paralysis is an autosomal dominantly inherited congenital diseasecharacterized by intermittent attacks of muscle weakness lasting for a few hours to a few daysand occurring a few times a year or once a day. Due to the shift of potassium into muscle cells,serum potassium level is decreased during attacks and it is in the normal range between twoattacks. A 21 year old male patient seen in the emergency department due to a hypokalemicparalysis attack occurring without any obvious triggering factor was presented in this article.

  10. Developmentally Disabled Persons in Family Settings: Report No. 2.

    Science.gov (United States)

    Cox, Wendy M.; Wilson, Wendell L.

    The second in a series of three reports, this document presents findings of clients of Washington's Division of Developmental Disabilities (DDD), ages 22-29, who were living with their families at age 18 but now live elsewhere (group B). Findings are based on telephone interviews with families of 224 DDD clients and analysis of DDD records. The…

  11. Population and Family Education. Report of an Asian Regional Workshop.

    Science.gov (United States)

    United Nations Educational, Scientific, and Cultural Organization, Bangkok (Thailand).

    This report summarizes information compiled at a Regional Workshop on Population and Family Education, organized by the UNESCO Regional Office for Education in Asia and held in Bangkok, Thailand, September 7 - October 7, 1970. The objectives of the workshop were to study how elements of population and family education can be incorporated in the…

  12. Knowledge of family physicians on common dermatological diseases and their diagnosis and management trends

    Directory of Open Access Journals (Sweden)

    Kemal Özyurt

    2014-12-01

    Full Text Available Background and Design: In clinical practice, dermatology specialists usually encounter misdiagnosis and inappropriate management approaches of other specialists for several dermatological diseases. This study aims to investigate the knowledge, diagnosis and management trends of family physicians in primary care on common dermatological diseases and their opinions about dermatology education. Materials and Methods: A multicenter study was conducted in six cities in Turkey including a total of 302 family physicians in primary care using an 82-item questionnaire through in-person interview. The questionnaire aimed at identifying demographic characteristics of family physicians, knowledge on common dermatological diseases, and their diagnosis and management trends. Results: Out of 1414 family physicians, 302 (21.53% subjects, who could be contacted and those accepted to respond the questionnaire, were included. 57.6% of participants reported that there was not a microscope, while 94.4% reported that potassium hydroxide solution was not available in their clinics. A higher rate of family physicians mentioned experience difficulties in the management of psoriasis and acne rosacea. The rate of family physicians, who assumed that hepatobiliary disorders and other visceral conditions play a role in the etiopathogenesis of atopic dermatitis, psoriasis and acne vulgaris and those who did not state an opinion about this issue, was high. Incorrect management trends for bacterial skin diseases and nail diseases were observed with higher rates. Conclusion: It is recommended that knowledge should be reinforced through both undergraduate and continuous medical education and, skills of family physicians on the management of dermatological diseases should be improved.

  13. Lifestyle, family history, and risk of idiopathic Parkinson disease

    DEFF Research Database (Denmark)

    Kenborg, Line; Lassen, Christina F.; Ritz, Beate

    2015-01-01

    The relationship between Parkinson disease (PD) and smoking has been examined in several studies, but little is known about smoking in conjunction with other behaviors and a family history of PD. Using unconditional logistic regression analysis, we studied individual and joint associations...

  14. The SPINK gene family and celiac disease susceptibility

    NARCIS (Netherlands)

    Wapenaar, Martin C.; Monsuur, Alienke J.; Poell, Jos; Slot, Ruben Van 't; Meijer, Jos W. R.; Meijer, Gerrit A.; Mulder, Chris J.; Mearin, Maria Luisa; Wijmenga, Cisca

    The gene family of serine protease inhibitors of the Kazal type (SPINK) are functional and positional candidate genes for celiac disease (CD). Our aim was to assess the gut mucosal gene expression and genetic association of SPINK1, -2, -4, and -5 in the Dutch CD population. Gene expression was

  15. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Holm, I.E.; Schwartz, M.

    2008-01-01

    We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre-symptomatic an......We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre...

  16. Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family

    Directory of Open Access Journals (Sweden)

    H S Mahapatra

    2015-01-01

    Full Text Available We report a family with a rare genetic disorder arising out of mutation in the gene that encodes for the enzyme lecithin-cholesterol acyltransferase (LCAT. The proband presented with nephrotic syndrome, hemolytic anemia, cloudy cornea, and dyslipidemia. Kidney biopsy showed certain characteristic features to suggest LCAT deficiency, and the enzyme activity in the serum was undetectable. Mother and younger sister showed corneal opacity and dyslipidemia but no renal or hematological involvement. These two members had a milder manifestation of the disease called fish eye disease. This case is presented to emphasize the importance of taking family history and doing a good clinical examination in patients with nephrotic syndrome and carefully analyze the lipid fractions in these subset of patients.

  17. Bromodomain and extra-terminal (BET) family proteins: New therapeutic targets in major diseases

    Indian Academy of Sciences (India)

    Balasundaram Padmanabhan; Shruti Mathur; Manjula Ramu; Shailesh Tripathi

    2016-06-01

    The bromodomains and extra-terminal domain (BET) family proteins recognize acetylated chromatin through their bromodomains (BDs) and helps in regulating gene expression. BDs are chromatin ‘readers’; by interacting with acetylated lysines on the histone tails, they recruit chromatin-regulating proteins on the promoter region to regulate gene expression and repression. Extensive efforts have been employed by the scientific communities worldwide, to identify and develop potential inhibitors of BET family BDs to regulate protein expression by inhibiting acetylated histone (H3/H4) interactions. Several small molecule inhibitors have been reported, which not only have high affinity, but also have high specificity to BET BDs. These developments make BET family proteins to be an important therapeutic targets, for major diseases such as cancer, neurological disorders, obesity and inflammation. Here, we review and discuss the structural biology of BET family BDs and their applications in major diseases.

  18. The impact of patients' chronic disease on family quality of life: an experience from 26 specialties

    Directory of Open Access Journals (Sweden)

    Golics CJ

    2013-09-01

    Full Text Available Catherine Jane Golics,1 Mohammad Khurshid Azam Basra,2 M Sam Salek,1 Andrew Yule Finlay2 1Centre for Socioeconomic Research, School of Pharmacy and Pharmaceutical Sciences, 2Department of Dermatology and Wound Healing, Cardiff University School of Medicine, Cardiff University, Cardiff, UK Background: Previous studies have assessed family quality of life in individual disease areas and specialties. The aim of this study was to investigate the impact of disease on family members of patients over a wide range of specialties and identify key impact areas. This information is essential in order to reveal the extent of this impact and to allow strategies to be developed to support the family members of patients with chronic disease. Methods: Semi-structured interviews were carried out with 133 family members of mostly chronically ill patients from 26 medical specialties. Family members were invited to discuss all areas of their lives that had been affected by having an unwell relative. Thematic analysis was carried out using NVivo9® software. Results: Most family members were female (61%, the partner or spouse of the patient (56%, or the parent (22%. Their mean age was 56.1 years (range: 21–85 years and the mean duration of the patient's disease was 8.9 years (range: 1 month to 60 years. Ten key themes of family quality of life were identified from interviews. The median number of themes reported by family members was six (range: 1–10. The key themes included: emotional impact (mentioned by 92% of subjects, daily activities (91%, family relationships (69%, sleep and health (67%, holidays (62%, involvement in medical care and support given to family members (61%, work and study (52%, financial impact (51%, social life (37%, and time planning (14%. Relationships between the themes were identified. Conclusion: This large scale multi-specialty study has demonstrated the significant, yet similar, impact that illness can have on the quality of life of

  19. Sustainability Reporting in Family Firms: A Panel Data Analysis

    Directory of Open Access Journals (Sweden)

    Giovanna Gavana

    2016-12-01

    Full Text Available We analyze the largely unexplored differences in sustainability reporting within family businesses using a sample of 230 non-financial Italian listed firms for the period 2004–2013. Drawing on legitimacy theory and stakeholder theory, integrated with the socio-emotional wealth (SEW approach, we study how family control, influence and identification shape a firm’s attitude towards disclosing its social and environmental behavior. Our results suggest that family firms are more sensitive to media exposure than their non-family counterparts and that family control enhances sustainability disclosure when it is associated to a family’s direct influence on the business, by the founder’s presence on the board or by having a family CEO. In cases of indirect influence, without family involvement on the board, the level of family ownership is negatively related to sustainability reporting. On the other hand, a formal identification of the family with the firm by business name does not significantly affect social disclosure.

  20. AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD IN A LARGE IRANIAN FAMILY

    Directory of Open Access Journals (Sweden)

    D.D. Farhud

    1999-08-01

    Full Text Available Study of a family with autosomal dominant polycystic kidney diseases (ADPKD in five generations, including 96 healthy and 47 affected individuals, has been carried out in Tehran. Investigation on individuals, including final diagnoses by clinical findings, sonography, radiography and laboratory results, have Lead to the completion of genealogical chart of the family. The affected individuals have reached a stage of the disease with confirmed occurrence of renal damages. Uncertain diagnoses, unconfirmed statements of the family members about probable presence of the disease in some other members, and also the death of some members by other reasons were not possible to be registered in the chart. Up to now the chart has been the largest and the most complete in Iran, compared with the ones reported in the available literature.

  1. Report: Genetics of complex diseases

    Institute of Scientific and Technical Information of China (English)

    MOTULSKY Arno G.

    2006-01-01

    Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.

  2. Progress Report on Alzheimer Disease: Volume III.

    Science.gov (United States)

    National Inst. on Aging (DHHS/PHS), Bethesda, MD.

    This report summarizes advances in the understanding of Alzheimer's disease, the major cause of mental disability among older Americans. The demography of the disease is discussed, noting that approximately 2.5 million American adults are afflicted with the disease and that the large increase in the number of Alzheimer's disease patients is due to…

  3. Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

    Directory of Open Access Journals (Sweden)

    Mohammed Saadah

    2014-01-01

    Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

  4. Familial aggregation of schizophrenia-like symptoms in Huntington's disease.

    Science.gov (United States)

    Tsuang, D; DiGiacomo, L; Lipe, H; Bird, T D

    1998-07-10

    An increased incidence of schizophrenia-like symptoms in Huntington's disease (HD) has been well-documented in the past. The reasons for this association, however, have never been explained. At the University of Washington Medical Genetics Clinic, we had the opportunity to evaluate a unique juvenile-onset HD proband who had schizophrenia-like symptoms. This patient was referred to our clinic because of new onset of somatic delusions and command auditory hallucinations early in the course of her illness. Since we had already evaluated other affected individuals in her family, we selected another family with a nonpsychotic juvenile-onset proband for comparison. Using these two families in a small case-control study, we investigated the following hypotheses which could explain the association between schizophrenia-like symptoms and HD: first, schizophrenia-like symptoms may be related to the number of CAG repeats in the HD gene; second, schizophrenia-like symptoms may segregate in certain HD families, for unknown reasons; and third, there may coincidentally be an unrelated gene for schizophrenia in certain HD families. Comparisons of clinical characteristics and the HD genotype showed that family history of schizophrenia-like symptoms segregated with the HD gene; however, age of onset of HD, size of CAG repeat, and sex of the transmitting parent were not associated with psychotic symptoms. Further genetic and neurobiological studies are necessary to investigate the potential mechanism underlying this association.

  5. Refuge Disease Report 1978-79

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  6. Disease Loss Report, 1986-87

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  7. Disease Loss Report, 1987-88

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  8. Disease Loss Report 1997-1998

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  9. Disease Loss Report, 1983-84

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  10. Disease Loss Report 1990-91

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  11. Disease Loss Report 1993-1994

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  12. Disease Loss Report 1994-1995

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Wildlife Disease Reports (mostly focused on birds) include information on distribution and summaries of disease pickups on refuges, and sometimes necropsy results.

  13. Pompe disease: A case report

    Directory of Open Access Journals (Sweden)

    Abdullah Çim

    2015-12-01

    Full Text Available Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA. There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.

  14. Pseudoachondroplasia: Report on a South African family

    Directory of Open Access Journals (Sweden)

    Shahida Moosa

    2013-06-01

    Full Text Available Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.

  15. Family Planning Evaluation. Abortion Surveillance Report--Legal Abortions, United States, Annual Summary, 1970.

    Science.gov (United States)

    Center for Disease Control (DHEW/PHS), Atlanta, GA.

    This report summarizes abortion information received by the Center for Disease Control from collaborators in state health departments, hospitals, and other pertinent sources. While it is intended primarily for use by the above sources, it may also interest those responsible for family planning evaluation and hospital abortion planning. Information…

  16. Mutations in DJ-1 are rare in familial Parkinson disease

    Science.gov (United States)

    Pankratz, Nathan; Pauciulo, Michael W.; Elsaesser, Veronika E.; Marek, Diane K.; Halter, Cheryl A.; Wojcieszek, Joanne; Rudolph, Alice; Shults, Clifford W.; Foroud, Tatiana; Nichols Ph.D., William C.

    2006-01-01

    Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specific multipoint LOD scores at the DJ-1 locus. In addition to sequencing all coding exons for alterations, we used multiplex ligation-dependent probe amplification (MLPA) to examine the genomic copy number of DJ-1 exons. A known polymorphism (R98Q) was found in five PD subjects, once as a homozygote and in the other four cases as heterozygotes. No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD. PMID:16997464

  17. Familial isolated congenital asplenia: case report and literature review.

    Science.gov (United States)

    Ahmed, Syed Ather; Zengeya, Stanley; Kini, Usha; Pollard, Andrew J

    2010-03-01

    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 appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.

  18. [Wilson's disease - a case report].

    Science.gov (United States)

    Karwowska, Kornelia; Skrzypek, Julita; Chabik, Grzegorz; Członkowska, Anna; Zaborowska, Marzena; Wawrzyniak, Sławomir

    2016-01-01

    Wilson's disease (WD) or hepatolenticular degeneration, is a rare autosomal recessive genetic disorder caused by mutations in the Wilson disease protein (ATP7B) gene. It is characterized by impaired copper metabolism leading to its accumulation in various tissues and organs, including the liver and central nervous system, this results in the development of characteristic liver disease and neuropsychiatric symptoms. Liver symptoms usually appear during first three decades of life, while psychiatric symptoms are observed in people who are in their twenties or older. WD is one of few genetic diseases that can be effectively treated with pharmacotherapy. However, some cases, especially diagnosed late in the course of the disease, may not respond well to treatment. Here we present a case of a 22-year-old male with neurological, psychiatric and liver disease symptoms as an example of diagnostic and therapeutic challenges in patients. Wilson's disease (WD) should be considered in all patients presenting with neurological, psychiatric and liver disease symptoms especially those of young age.

  19. Balancing needs as a family caregiver in Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C.

    2015-01-01

    support and health services to deal with challenges. Wewanted to explore coping strategies and behaviour patterns used byfamily caregivers to care for themselves, while caring for a familymember with HD. Participants were recruited from hospitals andcommunity-based healthcare. The sample represents...... experiences fromcare-giving in all stages of the disease. We conducted semi-structuredinterviews with 15 family caregivers in Norway. The transcribed materialwas analysed by use of systematic text condensation, a method for cross-case thematic analysis of qualitative data. We found that family membersused...... various coping strategies, adjusted to the stage and progression ofHD. They tried to regulate information about the disease, balancingconsiderations for protection and disclosure, within and outside thefamily. The participants made efforts to maintain a balance between theirown needs in everyday life...

  20. Risk factors in familial forms of celiac disease

    Institute of Scientific and Technical Information of China (English)

    Hugh; James; Freeman

    2010-01-01

    Celiac disease has been reported in up to 2% of some European populations. A similar risk has been identified in the America and Australia where immigration of Eu-ropeans has occurred. Moreover, an increasing number of celiac disease patients are being identified in many Asian countries, including China and India. Finally, celiac disease has also been detected in Asian immigrants and their descendants to other countries, such as Canada. Within these so-called "general" celiac populations, however, there are...

  1. Family Stress with Chronic Childhood Illness: Cystic Fibrosis, Neuromuscular Disease, and Renal Disease.

    Science.gov (United States)

    Holroyd, Jean; Guthrie, Donald

    1986-01-01

    Parents of children with neuromuscular disease, cystic fibrosis, and renal disease were compared with parents of control subjects matched by age to the clinical cases. The three clinical groups exhibited different patterns of stressful response, consistent with the nature of their illnesses and the requirements for care imposed on the families.…

  2. Parenting and Family Support for Families 'at risk' - Implications from Child Abuse Reports

    Directory of Open Access Journals (Sweden)

    Ann Marie Halpenny

    2012-01-01

    Full Text Available The importance of family experiences on children’s development and wellbeing has been widely documented. Yet, recent reports generated by inquiries into child abuse and neglect in the Irish context raise disturbing questions with regard to how the severe maltreatment of children can occur within the family context. It is imperative that the messages generated from these inquiries can effectively inform policy and practice in terms of protecting children from harm and providing support to families at-risk. The present paper draws together key issues for parenting and family support for families ‘at risk’ based on the Roscommon and Monageer inquiries with a view to gaining insight into key issues which need to be addressed in terms of protecting children from harm and providing support for parents experiencing adversity. A number of implications arising from these reports are outlined and discussed. Specifically, the need to amplify the focus on support for parenting in the context of poverty and substance abuse is highlighted with a particular emphasis on developing sensitive screening and assessment for parents who may be difficult to engage with due to chronic mental health issues. The importance of accessing the voice of children within the provision of family support is also underlined in these findings. A key recommendation from these reports is that the needs, wishes and feelings of each child must be considered as well as the totality of the family situation. Moreover, the need for staff in child welfare and protection services to have access to ongoing training and professional development to meet the complex and changing needs of the children and families they are working with is also highlighted. Specifically, ongoing training for frontline staff in understanding the effects of drug and alcohol dependency, and, in particular, the effects on parenting and parent-child relationships is underscored in findings from these reports.

  3. Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Allayee, H.; Aouizerat, B.E.; Lusis, A.J. [Univ. of California, Los Angeles, CA (United States); Cantor, R.M.; Lanning, C.D.; Rotter, J.I. [Cedars-Sinai Research Inst., Los Angeles, CA (United States); Dallinga-Thie, G.M. [University Hospital, Utrecht (Netherlands). Dept. of Medicine; Krauss, R.M. [Lawrence Berkeley Lab., CA (United States); Bruin, T.W.A. de [University Hospital, Utrecht (Netherlands). Dept. of Medicine]|[University Hospital, Maastricht (Netherlands). Dept. of Medicine and Endocrinology

    1998-08-01

    Small, dense LDL particles consistently have been associated with hypertriglyceridemia, premature coronary artery disease (CAD), and familial combined hyperlipidemia (FCH). Previously, the authors have observed linkage of LDL particle size with four separate candidate-gene loci in a study of families enriched for CAD. These loci contain the genes for manganese superoxide dismutase (MnSOD), on chromosome 6q; for apolipoprotein AI-CIII-AIV, on chromosome 11q; for cholesteryl ester transfer protein (CETP) and lecithin:cholesterol acyl-transferase (LCAT), on chromosome 16q; and for the LDL receptor (LDLR), on chromosome 19p. The authors have now tested whether these loci also contribute to LDL particle size in families ascertained for FCH. The members of 18 families (481 individuals) were typed for genetic markers at the four loci, and linkage to LDL particle size was assessed by nonparametric sib-pair linkage analysis. The presence of small, dense LDL (pattern B) was much more frequent in the FCH probands than in the spouse controls. Evidence for linkage was observed at the MnSOD (P = .02), CETP/LCAT (P = .03), and apolipoprotein AI0CIII0AIV loci (P = .005) but not at the LDLR locus. The authors conclude that there is a genetically based association between FCH and small, dense LDL and that the genetic determinants for LDL particle size are shared, at least in part, among FCH families and the more general population at risk for CAD.

  4. Familial Multiple Myeloma: Report on Two Families and Discussion of Screening Options

    Directory of Open Access Journals (Sweden)

    Gerkes Erica H

    2007-06-01

    Full Text Available Abstract Multiple myeloma (MM is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within a family. However, several families have been reported with multiple cases of MM, so that the existence of hereditary MM has been postulated although no causative germline mutations have been detected so far. First-degree relatives of MM patients have been reported to have a relative risk between two and four times higher than normal of developing MM and we presume the risks are higher for relatives in the case of familial MM. Here we report on two families with MM who requested presymptomatic screening of healthy relatives. Although risk estimates for asymptomatic relatives in these types of families are not available, a clinically significant risk of developing MM cannot be excluded. We suggest that, in a research setting, screening for MM could be offered to individuals with more than one first-degree affected relative, or to those with one first-degree and at least one second-degree relative with MM. We propose a screening programme of annual protein electrophoresis of blood and urine, starting at age 40 (or earlier if a family member presented with MM at a younger age.

  5. Benign multicystic peritoneal mesothelioma: cases reports in the family with diverticulosis and literature review.

    Science.gov (United States)

    Tangjitgamol, S; Erlichman, J; Northrup, H; Malpica, A; Wang, X; Lee, E; Kavanagh, J J

    2005-01-01

    We report on benign multicystic peritoneal mesothelioma in two siblings whose family had a history of multiple familial diseases including diverticulosis. After a genetic evaluation and a chromosomal analysis, we were not able to identify a specific genetic cause of the family's pattern of disease. We assumed that previous surgical procedures and the chronic inflammatory process from diverticulitis were the underlying etiology. Both patients had multiple recurrences with indolent courses similar to those reported in other cases. After the recurrences, one patient was treated with cystic aspiration and the other with hormones. The cysts in both cases regressed partially but the patients were relieved of their clinical symptoms, for 2 years after cystic drainage in one case and for 5 years after hormonal treatment in the other.

  6. Renal and suprarenal insufficiency secondary to familial Mediterranean fever associated with amyloidosis: a case report

    Directory of Open Access Journals (Sweden)

    Sari Nagehan

    2011-08-01

    Full Text Available Abstract Introduction Familial Mediterranean fever is an autosomal recessive disease that predominantly affects people of the Mediterranean coast. One of the most frequent complications of the disease is amyloidosis. This clinical entity is known as secondary (also called AA amyloidosis. Case presentation In this report, we describe the case of a 33-year-old Turkish man with familial Mediterranean fever and chronic renal insufficiency. He was admitted to our clinic with symptoms of suprarenal insufficiency. The patient died three months later as a result of cardiac arrest. Conclusion Our aim is to make a contribution to the literature by reporting a case of combined insufficiency due to the accumulation of renal and adrenal amyloid in a patient with familial Mediterranean fever, which has very rarely been described in the literature. We hope that adrenal insufficiency, which becomes fatal if not diagnosed and treated rapidly, will come to mind as easily as chronic renal failure in clinical practice.

  7. Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.

    Science.gov (United States)

    Hasani-Ranjbar, Shirin; Amoli, Mahsa M; Ebrahim-Habibi, Azadeh; Haghpanah, Vahid; Hejazi, Maryam; Soltani, Akbar; Larijani, Bagher

    2009-01-01

    von Hippel-Lindau (vHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. More than 300 germline VHL mutations have been identified that are involved in VHL disease. A large family (four generations) was evaluated. In this paper we report the presence of a single nucleotide mutation in exon 3 of VHL gene c499 C>T causing substitution of Arginine by Tryptophan at position 167 (R 167 W). It was detected in a family with bilateral malignant pheochromocytoma who has been followed for at least 9 years as RET negative isolated familial pheochromocytoma, finally diagnosed as von Hipple-Lindau disease according to retinal angioma and VHL gene mutation. VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene.

  8. Huntington disease in black Zimbabwean families living near the Mozambique border.

    Science.gov (United States)

    Scrimgeour, E M; Pfumojena, J W

    1992-12-01

    Huntington disease (HD) was identified in a black (Bantu) family living in the Manicaland region of Zimbabwe near the border with Mozambique. The pedigree included 11 affected individuals in 4 generations. There were 2 other probable HD patients from 2 unrelated black families in the same region. The prevalence rate of HD in this region of Zimbabwe was estimated to be 0.5-1 per 100,000. HD could have been introduced by Portuguese colonists from Mozambique, or by other European visitors, possibly before 1875. DNA studies may ultimately indicate if HD was introduced to this community, or if it arose by mutation. HD was previously reported in Zimbabwean blacks in 1978, when 4 cases of juvenile HD were described in a Bantu family with no apparent history of the disease.

  9. A report of a probable case of familial Guillain Barre syndrome

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    Mohammad Barzegar

    2012-01-01

    Full Text Available Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval.

  10. A pediatric approach to family history of cardiovascular disease: diagnosis, risk assessment, and management.

    Science.gov (United States)

    Miller, Erin M; Hinton, Robert B

    2014-02-01

    The medical family history is a comprehensive and dynamic record of illnesses and other pertinent health information among family members. Family history is used to facilitate diagnosis, to identify family members at risk for developing a particular disease, and increasingly to manage disease. This article reviews the application of family history to pediatric cardiovascular disease. As more is learned about the genetic basis of cardiovascular disease, the family history will play an increasingly central role in management. Improved understanding of the causes of pediatric cardiovascular disease promises the opportunity to develop new diagnostic and therapeutic strategies. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

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    Zhendi Wang

    2014-04-01

    Full Text Available Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD, a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq. Results: A unique 28 bp deletion (c.12605_12632del28 in exon 46 of the PKD1 gene was identified in two affected family members by LR PCR method, but not in any unaffected relatives or unrelated controls. Higher accuracy and less missing detection presented in LR PCR method compared with targeted DNA-HiSeq. This mutation c.12605_12632del28 (p.Arg4202ProextX146 resulted in a delayed termination of amino acid code, and was highly speculated pathogenic in this ADPKD family. Moreover, this newly identified frame-shift change was compared to the PKD gene database, but no similar mutation was yet reported. Conclusion: A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese ADPKD family. All evidence available suggested that it might be the mutation responsible for the disease in that family.

  12. A psychometric evaluation of the PedsQL™ Family Impact Module in parents of children with sickle cell disease

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    Hoffmann Raymond G

    2009-04-01

    Full Text Available Abstract Background Caring for a child with a chronic condition, such as sickle cell disease, can have a significant impact on parents and families. In order to provide comprehensive care and support to these families, psychometrically sound instruments are needed as an initial step in measuring the impact of chronic diseases on parents and families. We sought to evaluate the psychometric properties of the PedsQL™ Family Impact Module in populations of children with and without sickle cell disease. In addition, we sought to determine the correlation between parent's well being and their proxy report of their child's health-related quality of life (HRQL. Methods We conducted a cross-sectional study of parents of children with and without sickle cell disease who presented to an urban hospital-based sickle cell disease clinic and an urban primary care clinic. We assessed the HRQL and family functioning of both groups of parents utilizing the PedsQL™ Family Impact Module. The reliability, validity and factor structure of the instrument were determined and scores from the instrument were correlated with scores from parent-proxy report of their child's HRQL using the PedsQL™ 4.0 Generic Core Scales. Results Parents of 170 children completed the module (97 parents of children with sickle cell disease and 73 parents of children without sickle cell disease. The Family Impact Module had high ceiling effects but was reliable (Cronbach's alpha > 0.80 in all scales. The empirical factor structure was generally consistent with the theoretical factor structure and supported construct validity. The Family Impact Module discriminated between parents of children with severe sickle cell disease from parents of children with mild disease or no disease in the areas of communication and worry. There were no significant differences across any of the subscales between parents of children with mild sickle cell disease and those with no disease. Parents with higher

  13. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry.

    Science.gov (United States)

    Ramos, Bruna Ribeiro de Andrade; D'Elia, Maria Paula Barbieri; Amador, Marcos Antônio Trindade; Santos, Ney Pereira Carneiro; Santos, Sidney Emanuel Batista; da Cruz Castelli, Erick; Witkin, Steven S; Miot, Hélio Amante; Miot, Luciane Donida Bartoli; da Silva, Márcia Guimarães

    2016-06-01

    Ancestry information can be useful in investigations of diseases with a genetic or infectious background. As the Brazilian population is highly admixed physical traits tend to be poor indicators of ancestry. The assessment of ancestry by ancestry informative markers (AIMs) can exclude the subjectivity of self-declared ethnicity and reported family origin. We aimed to evaluate the reliability of self-reported ethnicity or reported family origin as indicators of genomic ancestry in a female population from the Southeast of Brazil. Two cohorts were included: 404 women asked to self-report their ethnicity (Pop1) and 234 women asked to report their family's origin (Pop2). Identification of AIMs was performed using a panel of 61 markers and results were plotted against parental populations-Amerindian, Western European and Sub-Saharan African-using Structure v2.3.4. In Pop1 57.4 % of women self-reported as white, 34.6 % as brown and 8.0 % as black. Median global European, Amerindian and African contributions were 66.8, 12.6 and 16.6 %. In Pop2, 66.4 % of women declared European origin, 23.9 % African origin and 26.9 % Amerindian. Median global European, Amerindian and African contributions were 80.8, 7.3 and 7.6 %, respectively. Only 31.0 and 21.0 % of the global variation in African and European contributions, respectively, could be explained by self-reported ethnicity and reported family origin only accounted for 20.0 and 5.0 % of the variations observed in African and European ancestries, respectively. Amerindian ancestry did not influence self-reported ethnicity or declared family origin. Neither self-reported ethnicity nor declared family origin are reliable indicators of genomic ancestry in these Brazilian populations.

  14. Parenting stress in pediatric IBD: relations with child psychopathology, family functioning, and disease severity.

    Science.gov (United States)

    Gray, Wendy N; Graef, Danielle M; Schuman, Shana S; Janicke, David M; Hommel, Kevin A

    2013-05-01

    Parenting stress in pediatric inflammatory bowel disease (IBD) has been under-examined. Data validating use of the Pediatric Inventory for Parents (PIP), a measure of parenting stress associated with caring for a chronically ill child, in chronic diseases with intermittent, unpredictable disease courses, such as IBD, are needed. This study presents validity data in support of the PIP in pediatric IBD and examines relations between parenting stress and important psychosocial and medical outcomes. Adolescents (N = 130) with IBD and their caregivers across 3 sites completed measures of parenting stress, family functioning, and emotional/behavioral functioning. Disease severity was also assessed for each participant. The PIP demonstrates excellent internal consistency. Parenting stress was significantly higher among those with unhealthy general family functioning and those with children with borderline or clinically elevated internalizing symptoms. Caregiving stress was greater among parents of youth with more active Crohn's disease. Results supported the reliability and validity of the PIP for assessing caregiving stress in pediatric IBD. Routine assessment of parenting stress is recommended, particularly among parents reporting unhealthy family functioning and parents of youth with borderline or clinically elevated internalizing symptoms and more active disease.

  15. Family history of vascular disease and the risk of cardiovascular events

    NARCIS (Netherlands)

    Weijmans, M.

    2015-01-01

    A positive family history of cardiovascular disease is an established risk factor for the development of cardiovascular disease. In clinical practice, this evident relation between the presence of cardiovascular disease in families and first cardiovascular events has resulted in family history being

  16. Dock-family exchange factors in cell migration and disease.

    Science.gov (United States)

    Gadea, Gilles; Blangy, Anne

    2014-10-01

    Dock family proteins are evolutionary conserved exchange factors for the Rho GTPases Rac and Cdc42. There are 11 Dock proteins in mammals, named Dock1 (or Dock180) to Dock11 that play different cellular functions. In particular, Dock proteins regulate actin cytoskeleton, cell adhesion and migration. Not surprisingly, members of the Dock family have been involved in various pathologies, including cancer and defects in the central nervous and immune systems. This review proposes an update of the recent findings regarding the function of Dock proteins, focusing on their role in the control of cell migration and invasion and the consequences in human diseases. Copyright © 2014 Elsevier GmbH. All rights reserved.

  17. The performance of oyster families exposed to Dermo disease is contingent on the source of pathogen exposure

    Science.gov (United States)

    Here we report preliminary results from a course of research integrating pathology, feeding ecology, genetics and genomics to address resistance to Dermo disease in eastern oysters. We challenged six oyster families with Perkinsus marinus, the etiological agent of Dermo disease, through either direc...

  18. Cleidocranial dysostosis: a report on two familial cases

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    Carlos Guilherme Gaelzer Porciuncula

    2013-12-01

    Full Text Available Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

  19. Familial occurence of mesiodens--a case report.

    Science.gov (United States)

    Sharma, A

    2003-06-01

    Molariform supernumerary teeth in the maxillary central incisor area are uncommon. This article reports the presence of a molariform mesiodens in daughter and a conical mesiodens in father. Detailed investigation into family history of patients with mesiodens is needed. Though the etiology of this dental anomaly remains unclear, genetics as a key factor in the development of supernumerary teeth is highlighted.

  20. Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives.

    Science.gov (United States)

    Janssens, A Cecile J W; Henneman, Lidewij; Detmar, Symone B; Khoury, Muin J; Steyerberg, Ewout W; Eijkemans, Marinus J C; Mushkudiani, Nino; Oostra, Ben A; van Duijn, Cornelia M; Mackenbach, Johan P

    2012-01-01

    We investigated the accuracy of self-reported family history for diabetes, hypertension, and overweight against two reference standards: family history based on physician-assessed health status of relatives and on self-reported personal health status of relatives. Subjects were participants from the Erasmus Rucphen Family study, an extended family study among descendants of 20 couples who lived between 1850 and 1900 in a southwest region of the Netherlands and their relatives (n=1,713). Sensitivity and specificity of self-reported family history were calculated. Sensitivity of self-reported family history was 89.2% for diabetes, 92.2% for hypertension, and 78.4% for overweight when family history based on relatives' self-reported personal health status was used as reference and 70.8% for diabetes, 67.4% for hypertension, and 77.3% for overweight when physician-assessed health status of relatives was used. Sensitivity and specificity of self-reported personal health status were 76.8% and 98.8% for diabetes, 38.9% and 98.0% for hypertension, and 80.9% and 75.7% for overweight, respectively. The accuracy of self-reported family history of diabetes and hypertension is strongly influenced by the accuracy of self-reported personal health status of relatives. Raising awareness of personal health status is crucial to ensure the utility of family history for the assessment of risk and disease prevention. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Treatment of Crohn's disease and familial Mediterranean fever by leukopheresis: single shot for two targets.

    Science.gov (United States)

    Yuksel, Mahmut; Saygili, Fatih; Coskun, Orhan; Suna, Nuretdin; Kaplan, Mustafa; Kuzu, Ufuk Baris; Kilic, Zeki Mesut Yalin; Ozin, Yasemin Ozderin; Kayacetin, Ertugrul

    2015-04-07

    Coexistence of Crohn's disease (CD) and familial Mediterranean fever (FMF) is a rare condition and knowledge about this clinical situation is limited with a few case reports in the literature. The treatment of both diseases depends on their individual therapies. However, it is very hard to deal with this coexistence when CD is refractory to standard therapies. Ongoing activity of CD triggers the clinical attacks of FMF and the symptoms like abdominal pain interfere with both disease presentations which can cause problems about diagnostic and therapeutic approach. The main therapeutic agent for FMF is colchicine and diarrhea is the most common side effect of this drug. This side effect also causes problems about management of these diseases when both of them are clinically active. Here we report probably the first case in the literature with coexisting CD and FMF who was successfully treated by leukopheresis since he was refractory to conventional therapies for CD.

  2. Juvenile Huntington's disease: a case report and literature review.

    Science.gov (United States)

    Reyes Molón, L; Yáñez Sáez, R M; López-Ibor Alcocer, M I

    2010-01-01

    Huntington's disease is the most frequent neurodegenerative disease with a prevalence of fewer than 10 cases per 10,000 inhabitants; the juvenile form is responsible for less than 10% of all cases. Huntington's disease belongs to the group known as "triad syndromes," which evolve with cognitive, motor and neuropsychiatric manifestations. Around 30% of patients debut with behavioral symptoms, which are a major challenge for management by patients, families, and caregivers. Huntington's disease (HD) is reviewed and a case of juvenile onset is reported in this article. The characteristics of juvenile-onset Huntington's disease (HD) differ from those of adult-onset HD, as chorea does not occur, although bradykinesia, dystonia, and signs of cerebellar disorder, such as rigidity, are present, frequently in association with convulsive episodes and psychotic manifestations.

  3. The Roles of ADAMs Family Proteinases in Skin Diseases

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    Masakazu Kawaguchi

    2011-01-01

    Full Text Available A disintegrin and metalloproteinases (ADAMs are members of a new gene family of transmembrane and secreted proteins, which belong to the zinc proteinase superfamily. These molecules are involved in various biological events such as cell adhesion, cell fusion, cell migration, membrane protein shedding, and proteolysis. Growing evidence now attests to the potential involvement of ADAMs proteinases in diverse processes such as skin wound healing, inflammation, pigmentation, tumor development, cell proliferation, and metastasis. This paper focuses on the roles of ADAMs proteinases in a wide variety of skin diseases.

  4. Mandatory reporting of occupational diseases by clinicians

    Energy Technology Data Exchange (ETDEWEB)

    Freund, E.; Seligman, P.J. (National Institute for Occupational Safety and Health, Cincinnati, OH (USA)); Chorba, T.L.; Safford, S.K.; Drachman, J.G. (Centers for Disease Control, Atlanta, GA (USA)); Hull, H.R. (New Mexico Health and Environment Department, Santa Fe (USA))

    1989-12-01

    Occupational disease surveillance is a critical step in the prevention of work-related injury and illness. Case reporting by health care providers to public health authorities is one way of identifying sources of exposure toward which control measures can be directed. Most health care providers are familiar with the existence of reporting requirements for infectious diseases; however, less attention has been paid by the medical community to recognizing and reporting occupationally related conditions. The Department of labor estimated that in 1978 approximately 1.9 million people were severely or partially disabled from occupationally related diseases, at an annual cost of $11.4 billion in lost wages alone.

  5. Weismann-Netter-Stuhl syndrome: a family report.

    Science.gov (United States)

    Alp, Hayrullah; Atabek, Mehmet Emre; Pirgon, Özgür

    2009-01-01

    Weismann-Netter-Stuhl (WNS) syndrome is a rare skeletal anomaly that affects the diaphyseal part of both the tibiae and fibulae with posterior cortical thickening and anteroposterior bowing. This anomaly is usually bilateral and symmetrical. The patients are generally of short stature. In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members.

  6. A case report of schizophrenia with severe disability: the eclectic family therapy approach

    Directory of Open Access Journals (Sweden)

    Bornali Das

    2017-01-01

    Full Text Available Schizophrenia is one of the most common mental disorders affecting perception, emotion, cognition, thinking, and behaviour of the person. The onset is generally in the second decade. Its manifestation varies from patient to patient but its effects are usually severe and long lasting. It can manifest as ‘positive symptoms’ such as hallucinations (hearing voices and seeing things and delusions (having strange beliefs. People with schizophrenia also suffer from disorganisation and ‘negative symptoms’ (such as tiredness, apathy, and loss of emotion. The patient becomes isolated socially and becomes a burden to the family due to lack of proper knowledge about the disease, frequent relapses due to poor drug compliance, side effects, high negative expressed emotions, poor coping skills, and disability. Due to the chronic nature of the disease, the family members and caregivers are also affected. This social casework report describes how a young adult girl with severe disability and dysfunctional family functioning has become hurdle in the treatment and management. Though pharmacotherapy is the mainstay of this disease, social casework based on structural family therapy approach undertaken along with family psychoeducation, behaviour modification techniques, social skills, and coping, and also supportive work with family members help. A home-based rehabilitation plan was worked to provide relief to the caregivers. It illustrates the positive outcome of individual as well as family intervention using structural, behavioural, psychoeducational, and rehabilitative approaches and techniques with an individual after completing 12 sessions and telephonic feedbacks. This resulted in adequate change of the family functioning as they were able to identify their problems, generate solutions, and apply them.

  7. A family living with Alzheimer's disease: The communicative challenges.

    Science.gov (United States)

    Jones, Danielle

    2015-09-01

    Alzheimer's disease irrevocably challenges a person's capacity to communicate with others. Earlier research on these challenges focused on the language disorders associated with the condition and situated language deficit solely in the limitations of a person's cognitive and semantic impairments. This research falls short of gaining insight into the actual interactional experiences of a person with Alzheimer's and their family. Drawing on a UK data set of 70 telephone calls recorded over a two-and-a-half year period (2006-2008) between one elderly woman with Alzheimer's disease, and her daughter and son-in-law, this paper explores the role which communication (and its degeneration) plays in family relationships. Investigating these interactions, using a conversation analytic approach, reveals that there are clearly communicative difficulties, but closer inspection suggests that they arise due to the contingencies that are generated by the other's contributions in the interaction. That being so, this paper marks a departure from the traditional focus on language level analysis and the assumption that deficits are intrinsic to the individual with Alzheimer's, and instead focuses on the collaborative communicative challenges that arise in the interaction itself and which have a profound impact on people's lives and relationships.

  8. Opposing functions of classic and novel IL-1 family members in gut health and disease

    Directory of Open Access Journals (Sweden)

    Loris R. Lopetuso

    2013-07-01

    Full Text Available In addition to their well-established role(s in the pathogenesis of gastrointestinal (GI-related inflammatory disorders, including inflammatory bowel disease (IBD and inflammation-associated colorectal cancer (CRC, emerging evidence confirms the critical involvement of the interleukin-1 (IL-1 cytokine family and their ligands in the maintenance of normal gut homeostasis. In fact, the paradigm that IBD occurs in two distinct phases is substantiated by the observation that classic IL-1 family members, such as IL-1, the IL-1 receptor antagonist (IL-1Ra, and IL-18, possess dichotomous functions depending on the phase of disease, as well as on their role in initiating vs. sustaining chronic gut inflammation. Another recently characterized IL-1 family member, IL-33, also possesses dual functions in the gut. IL-33 is upregulated in IBD and potently induces Th2 immune responses, while also amplifying Th1-mediated inflammation. Neutralization studies in acute colitis models, however, have yielded controversial results and recent reports suggest a protective role of IL-33 in epithelial regeneration and mucosal wound healing. Finally, although little is currently known regarding the potential contribution of IL-36 family members in GI inflammation/homeostasis, another IL-1 family member, IL-37, is emerging as a potent anti-inflammatory cytokine with the ability to downregulate colitis. This new body of information has important translational implications for both the prevention and treatment of patients suffering from IBD and inflammation-associated CRC.

  9. PARK1 gene mutation of autosomal dominant Parkinson's disease family

    Institute of Scientific and Technical Information of China (English)

    Ligang Jiang; Guohua Hu; Qiuhui Chen; Ying Zhang; Xinyu Hu; Jia Fan; Lifeng Liu; Rui Guo; Yajuan Sun; Yixhi Zhang

    2011-01-01

    Studies have shown that PARK1 gene is associated with the autosomal dominant inheritance of Parkinson's disease.PARK1 gene contains two mutation sites, namely Ala30Pro and AIa53Thr, which are located on exons 3 and 4, respectively.However, the genetic loci of the pathogenic genes remain unclear.In this study, blood samples were collected from 11 members of a family with high prevalence of Parkinson's disease, including four affected cases, five suspected cases,and two non-affected cases.Point mutation screening of common mutation sites on PARK1 gene exon 4 was conducted using PCR, to determine the genetic loci of the causative gene for Parkinson's disease.Gene identification and sequencing results showed that a T base deletion mutation was observed in the PARK1 gene exon 4 of all 11 collected samples.It was confirmed that the PARKf gene exon 4 gene mutation is an important pathogenic mutation for Parkinson's disease.

  10. Association of Peripheral Arterial and Cardiovascular Diseases in Familial Hypercholesterolemia

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    Carolina Pereira

    2014-08-01

    Full Text Available Background: Familial hypercholesterolemia (FH is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c. Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD. Objective: This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD, such as coronary artery and cerebrovascular disease, in patients with heterozygous FH. Methods: The diagnosis of PAD was established by ankle-brachial index (ABI values ≤ 0.90. This study assessed 202 patients (35% of men with heterozygous FH (90.6% with LDL receptor mutations, mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL. Results: The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049. Conclusion: Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients.

  11. Association of Peripheral Arterial and Cardiovascular Diseases in Familial Hypercholesterolemia

    Energy Technology Data Exchange (ETDEWEB)

    Pereira, Carolina [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Miname, Marcio [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Makdisse, Marcia [Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Kalil, Roberto Filho [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Santos, Raul D., E-mail: rdsf@cardiol.br [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Hospital Israelita Albert Einstein, São Paulo, SP (Brazil)

    2014-08-15

    Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by an elevation in the serum levels of total cholesterol and of low-density lipoproteins (LDL- c). Known to be closely related to the atherosclerotic process, FH can determine the development of early obstructive lesions in different arterial beds. In this context, FH has also been proposed to be a risk factor for peripheral arterial disease (PAD). This observational cross-sectional study assessed the association of PAD with other manifestations of cardiovascular disease (CVD), such as coronary artery and cerebrovascular disease, in patients with heterozygous FH. The diagnosis of PAD was established by ankle-brachial index (ABI) values ≤ 0.90. This study assessed 202 patients (35% of men) with heterozygous FH (90.6% with LDL receptor mutations), mean age of 51 ± 14 years and total cholesterol levels of 342 ± 86 mg /dL. The prevalences of PAD and previous CVD were 17% and 28.2 %, respectively. On multivariate analysis, an independent association between CVD and the diagnosis of PAD was observed (OR = 2.50; 95% CI: 1.004 - 6.230; p = 0.049). Systematic screening for PAD by use of ABI is feasible to assess patients with FH, and it might indicate an increased risk for CVD. However, further studies are required to determine the role of ABI as a tool to assess the cardiovascular risk of those patients.

  12. Familismo and its impact on the family caregiving of Latinos with Alzheimer's disease: a complex narrative.

    Science.gov (United States)

    Gelman, Caroline Rosenthal

    2014-01-01

    Despite the long-held view that Latinos' value and reliance on family leads to greater involvement of extended family in caring for sick members and reduced perception of burden, some research reports low levels of social support and high levels of distress among Latino caregivers. We explore this seeming discrepancy in a qualitative study of 41 Latino caregivers of family members with Alzheimer's disease, interviewing them regarding the role of familism in their caregiving experience. For some it facilitates caregiving in the traditional, expected manner. Other caregivers disavow its current relevance. Yet others feel a contrast between familism, which they may value in a general, abstract way and more personal, immediate negative feelings they are experiencing from caregiving. We discuss these complex, multidimensional findings, the variation among caregivers, and present implications for practice, policy, and research.

  13. A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.

    Science.gov (United States)

    Rodriguez, M-M; Peoc'h, K; Haïk, S; Bouchet, C; Vernengo, L; Mañana, G; Salamano, R; Carrasco, L; Lenne, M; Beaudry, P; Launay, J-M; Laplanche, J-L

    2005-04-26

    Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with prominent pyramidal and extrapyramidal symptoms, and long disease duration.

  14. A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Ram Nanik

    2012-12-01

    Full Text Available Abstract Background Familial glucocorticoid deficiency (FGD is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. Case presentation An eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to have isolated glucocorticoid deficiency. He later developed focal segmental glomerulosclerosis for which he underwent renal transplantation at the age of five years. Now at the age of twelve years, this boy is doing well on hydrocortisone treatment. His two siblings and a first degree cousin also had isolated glucocorticoid deficiency. One of the above two siblings died due to renal failure secondary to focal segmental glomerulosclerosis. Conclusion Patients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.

  15. CREUTZFELDT - JAKOB DISEASE : A CASE REPORT

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    Theophilus Premkumar

    2015-06-01

    Full Text Available Prion diseases are a group of fatal neurodegenerative diseases caused by the trans - formation of an endogenous protein, PrP (prion - related protein, into an abnormal conformation, the most common of which in humans is Creutzfeldt - Jakob disease. We report t he case of a 40 year old lady who presented with rapidly progressive dementia with pyramidal, extra - pyramidal, cerebellar symptoms, myoclonus and akinetic mutism. Her EEG showed typical periodic sharp wave complexes and MRI Brain revealed DWI>FLAIR intensi ty in bilateral caudate nuclei, putamen & bilateral subcortical frontal lobes . The clinico - radiological correlation was consistent with the diagnosis of Creutzfeldt - Jakob disease.

  16. Report of a case : Kimura disease

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    Behzad Mohsenpour1

    2009-01-01

    Full Text Available (Received 15 Jun, 2008 ; Accepted 4 Mar, 2009AbstractKimura is a rare disease that its etiology is not defined exactly. Immunologic and allergic responses are the probable cause of disease. Kimura is most often reported mostly in Asian men. Kimura is presented by subcutaneous nodule or multiple nodules in head and neck region. This Disease is benign. The kimura disease is rare and until 1994 about 120 were reported. In our literature research one documented case was reported in Iran. Treatment of disease include surgery, corticosteroid and cyclosporine. The presented case was a 36 years old man with right parotid gland and submentum lymph nodes enlargement. Excision of mass was done and kimura was documented by pathological examination. Recurrence of disease was happened and treatment was done by cyclosporine, prednisolon and cetirizine.kimura is a very rare disease that may be mistaken with malignancy. Therapy includes surgical excision and medical treatment. Correct diagnosis of disease can prevent radical surgery. J Mazand Univ Med Sci 2009; 19(68:84-88 (Persian

  17. Kikuchi-Fujimoto disease: pediatric case report.

    Science.gov (United States)

    Ojeda Lewis, Eduardo; Vásquez Paz, Héctor

    2015-09-28

    The Kikuchi-Fujimoto disease is a rare disease that occurs mostly in young adults, although some cases have been reported in children. It is usually characterized by fever and cervical lymphadenopathy. The etiology of the disease remains unknown. Its course is usually benign and self-limited. It has special histopathological features that allow the differential diagnosis with other entities, which from a clinical point of view can be very complicated. We report a 9 years 11 months old girl with lymphadenopathy and fever with five months evolution, which is the longest evolution among the cases reviewed by the authors in world literature. Given that the presentation of this disease in children is very rare, we estimate that the knowledge of this disease is relevant and pediatricians must consider it in the differential diagnosis of fever of unknown origin in children.

  18. Fixed subaortic stenosis associated with hypertrophic cardiomyopathy: report of a rare familial occurrence.

    Science.gov (United States)

    Conte, M R; Bongioanni, S; Dall'Orto, G; Nicastro, C; Bonfiglio, G; Morello, M; Mangiardi, L; Brusca, A

    1998-01-01

    Fixed subaortic stenosis is considered to be an acquired condition. It is often associated with congenital heart disease, creating a turbulence in the left ventricle outflow tract. Familial forms of fixed subaortic stenosis are very unusual. We report a remarkable familial cluster in which fixed subaortic stenosis is associated with hypertrophic cardiomyopathy. Fourteen relatives of a patient affected with hypertrophic cardiomyopathy and fixed subaortic stenosis underwent cardiological examination, electrocardiogram and echo-doppler study. Two of the proband's sisters showed an association between asymmetrical hypertrophic cardiomyopathy and fixed subaortic stenosis. The brother presented a subaortic ridge and concentric left ventricular hypertrophy. The other members of the family (another brother and the third-generation relatives) were unaffected. While the association between fixed subaortic stenosis and hypertrophic cardiomyopathy has commonly been reported, there is little in the literature to suggest the family-related nature of this association. The familial occurrence of this association reveals genetic transmission, with a recessive autosomal pattern of inheritance. This finding goes against the usual autosomal dominant pattern of inheritance in hypertrophic cardiomyopathy. Familial studies of FSS are needed in order to gain a better understanding of the genetic background of these patients.

  19. A RARE FAMILIAL CASE REPORT OF NAIL-PATELLA SYNDROME

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    Rakesh

    2014-10-01

    Full Text Available Nail-patella syndrome is a rare genetic disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia (HOOD syndrome, Fong’s syndrome, Turner-Kieser syndrome. (1 Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this case report we have described almost all the radiographic features of nail-patella syndrome including the pathognomic iliac horns and other skeletal features including absent or hypoplastic patellae, elbow abnormalities, as seen on radiographs. The magnetic resonance imaging (MRI of the features of this syndrome has been mentioned in only one report, (2 however, no images were actually presented. Considering the hereditary nature (autosomal dominant of the syndrome we wanted to rule out whether any other member in the family are involved and to our surprise we found two other members(mother and elder brother in the family with similar features.

  20. HLA is unlikely to be a major component of risk in familial inflammatory bowl disease

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    Mathew, C.G.; Naom, I.S.; Hodgson, S.V. [UMDS Guy`s Hospital, London (United Kingdom)] [and others

    1994-09-01

    Inflammatory bowel disease (IBD) is a chronic inflammation of the bowel which is confined to the colon in ulcerative colitis (UC) or may affect any part of the gastrointestinal tract in Crohn`s disease (CD). The cause of IBD is unknown, but a genetic component is suggested by a 10-fold increase in risk to first degree relatives, and a higher concordance of disease in MZ versus DZ twins. Distinct associations of HLA DR2 with UC and DR1/DQw5 with CD have been reported. We are searching for susceptibility genes in IBD by linkage analysis in a panel of 43 families with 3 or more living affected members, which includes 12 families with CD, 17 with UC and 14 {open_quotes}mixed{close_quotes} families with UC and CD. In view of the reported HLA associations in IBD, we have analyzed 5 microsatellite markers from the major histocompatibility complex for linkage to IBD using both parametric and nonparametric methods. LOD scores were calculated for 4 different genetic models, including both dominant and recessive inheritance, and haplotype sharing was analyzed in affected siblings. LOD scores for the MHC locus were negative in the full data set, and in the 3 classes of family (UC,CD,mixed). Haplotype sharing in affected sibs was very close to that expected if no linkage was present. We conclude that genes from the HLA region are unlikely to be a major component of risk in familial IBD. Linkage analysis of genes which cause chronic colitis when disrupted in transgenic mice is in progress.

  1. Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study.

    Science.gov (United States)

    Mundal, Liv; Veierød, Marit B; Halvorsen, Thomas; Holven, Kirsten B; Ose, Leiv; Iversen, Per Ole; Tell, Grethe S; Leren, Trond P; Retterstøl, Kjetil

    2016-12-01

    Background Familial hypercholesterolaemia increases the risk for cardiovascular disease. The primary aim of the present study was to describe sex differences in incidence and prevalence of cardiovascular disease leading to hospitalisation in a complete cohort of genotyped familial hypercholesterolaemia patients. Design and methods In this registry study data on 5538 patients with verified genotyped familial hypercholesterolaemia were linked to data on all Norwegian cardiovascular disease hospitalisations, and hospitalisations due to pre-eclampsia/eclampsia, congenital heart defects and diabetes. Results During 1994-2009 a total of 1411 of familial hypercholesterolaemia patients were hospitalised, and ischaemic heart disease was reported in 90% of them. Mean (SD) age at first hospitalisation and first re-hospitalisation was 45.1 (16.5) and 47.6 (16.3) years, respectively, with no sex differences ( P = 0.66 and P = 0.93, respectively). More men (26.9%) than women (24.1%) with familial hypercholesterolaemia were hospitalised ( P = 0.02). The median (25th-75th percentile) number of hospital admissions was four (two to seven) per familial hypercholesterolaemia patient, with no sex differences ( P = 0.87). Despite having familial hypercholesterolaemia at the time of hospitalisation, the diagnosis of familial hypercholesterolaemia was registered in only 45.7% of the patients at discharge. Conclusion Most cardiovascular disease hospitalisations were due to ischaemic heart disease. Familial hypercholesterolaemia patients were first time hospitalised at age 45.1 years, with no significant sex differences in age, which are important novel findings. The awareness and registration of the familial hypercholesterolaemia diagnosis during the hospital stays were disturbingly low.

  2. Familial Discoid Medial Meniscus Tear in Three Members of a Family: A Case Report and Review of Literature

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    Raheel Ahmed Ali

    2014-01-01

    Full Text Available Background. A discoid meniscus is a thickened variant of the normal C-shaped meniscus prone to injury. Discoid medial meniscal tears have rarely been reported within families and may suggest familial or developmental origins. Methods. We report the cases of two Caucasian brothers with symptomatic discoid medial meniscus tears. A literature review was conducted addressing discoid medial meniscus and cases of familial meniscus tears. Case Presentation. Physically active brothers presented with progressively worsening knee pain. MRI revealed medial meniscus tears in both brothers. The family history of medial meniscus tears in their mother and the discoid medial meniscus injuries found on arthroscopy suggested evidence for familial discoid medial meniscus tears. Conclusions. Discoid medial meniscus tears within a family have not been previously reported. Two cases of families with discoid lateral meniscus tears have been reported. Discoid medial meniscus is rare relative to the discoid lateral meniscus and predisposes children to symptomatic tears.

  3. Neurochemistry changes associated with mutations in familial Parkinson's disease.

    Science.gov (United States)

    Siddique, M M; Tan, E K

    2010-01-01

    Parkinson's disease (PD), a common neurodegenerative disease, is characterized by the progressive loss of dopamine neurons and the accumulation of Lewy bodies and neurites. The exact role of genetic and environmental factors in the pathogenesis of PD has frequently been debated. The association of MPTP (methyl-4-phenyl-1, 2, 3, 6- tetrahydropyridine) and toxins (such as rotenone) with parkinsonism highlights the potential etiologic role of environmental toxins in disease causation. The recent discoveries of monogenic (such as α-synuclein, Parkin, UCHL1, PINK1, DJ-1, LRRK2) forms of PD have provided considerable insights into its pathophysiology. Parkin, an ubiquitin protein ligase assists in the degradation of toxic substrates via the ubiquitin proteasome system. It can also mediate a nondegradative form of ubiquitination. PINK1 and LRRK2 are possibly involved in the phosphorylation of substrates important for various cellular functions. Some toxins could interact with α-synuclein, an endogenous protein that is implicated in pathology of PD. Increasing in vitro and in vivo studies suggest that deficits in mitochondrial function, oxidative and nitrosative stress, the accumulation of aberrant or misfolded proteins, and ubiquitin-proteasome system dysfunction underpin the pathogenesis of sporadic and familial forms of PD. Elucidation of the functions of the proteins encoded by the diseasecausing genes will provide an opportunity for identification of specific pathways that could be targeted in neurotherapeutics.

  4. A model for intra-familial distribution of an infectious disease (Chagas' disease

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    M. F. Feitosa

    1993-06-01

    Full Text Available A probabilistic model for intra-familial distribution of infectous disease is proposed and applied to the prevalence of positive serology for Trypanosoma cruzi infection in Northeastern Brazilian sample. This double with one tail excess model fits satisfactorily to the data and its interpretation says that around 51% of these 982 families are free of infection risk; among those that are at risk, 3% have a high risk (0.66, probably due to high domestic infestation of the vector bug; while 97% show a small risk (0.11, probably due to accidental, non-domestic transmission.

  5. Methylenetetrahydrofolate Reductase Polymorphisms at Familial Bladder Cancer: Case Report

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    Gulay Ceylan

    2016-02-01

    Full Text Available Bladder cancer is the seventh most common cancer in men in the world, it is the second most seen cancer after lung cancer and the first in urogenital tumours in Turkey. Many molecular epidemiologic studies have been reported to investigate the associations between the MTHFR C677T and A1298C polymorphisms and bladder cancer risk. In this report, a family with transitional bladder cancer have also MTHFR A1298C heterozygosity which supports the association between MTHFR variants and bladder cancer. This %uFB01nding should be further validated by prospective and larger studies with more diverse ethnic groups.

  6. A Unifying Hypothesis for Familial and Sporadic Alzheimer's Disease

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    Carole J. Proctor

    2012-01-01

    Full Text Available Alzheimer's disease (AD is characterised by the aggregation of two quite different proteins, namely, amyloid-beta (Aβ, which forms extracellular plaques, and tau, the main component of cytoplasmic neurofibrillary tangles. The amyloid hypothesis proposes that Aβ plaques precede tangle formation but there is still much controversy concerning the order of events and the linkage between Aβ and tau alterations is still unknown. Mathematical modelling has become an essential tool for generating and evaluating hypotheses involving complex systems. We have therefore used this approach to discover the most probable pathway linking Aβ and tau. The model supports a complex pathway linking Aβ and tau via GSK3β, p53, and oxidative stress. Importantly, the pathway contains a cycle with multiple points of entry. It is this property of the pathway which enables the model to be consistent with both the amyloid hypothesis for familial AD and a more complex pathway for sporadic forms.

  7. Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease.

    Science.gov (United States)

    Hancock, Dana B; Martin, Eden R; Stajich, Jeffrey M; Jewett, Rita; Stacy, Mark A; Scott, Burton L; Vance, Jeffery M; Scott, William K

    2007-04-01

    To assess associations between Parkinson disease (PD) and putatively protective factors-smoking, caffeine (coffee, tea, and soft drinks), and nonsteroidal anti-inflammatory drugs (aspirin, ibuprofen, and naproxen). Family-based case-control study. Academic medical center clinic. A total of 356 case subjects and 317 family controls who self-reported environmental exposures. Associations between PD and environmental measures (history, status, dosage, duration, and intensity) of smoking, coffee, caffeine, nonsteroidal anti-inflammatory drugs, and non-aspirin nonsteroidal anti-inflammatory drugs were examined using generalized estimating equations with an independent correlation matrix while controlling for age and sex. Individuals with PD were significantly less likely to report ever smoking (odds ratio = 0.56; 95% confidence interval, 0.41-0.78). Additional measures of smoking revealed significant inverse associations with PD (Pgenetic studies of PD.

  8. Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran

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    F. E. Mahjoub

    2016-01-01

    Full Text Available Introduction. Intractable diarrhea of infancy (IDI includes several types of early onset diarrhea; one of the rare etiologies is trichohepatoenteric (THE syndrome, also known as syndromic diarrhea (SD which was primarily described by Stankler et al. Hereby we report a family with several affected members which to our knowledge is the first case report from Iran. Report of Cases. A three-year-old boy referred with short stature, poor weight gain, and intermittent steatotic diarrhea to our center. He was born to healthy, relative parents (cousins. He did not gain any weight after four months of age and began having intermittent steatotic diarrhea, abdominal distension, and fever. He was hospitalized several times. Two other children in the family also showed somewhat similar symptoms. Two sweat tests were negative for cystic fibrosis. Workup for Celiac disease was performed several times which was negative; however, gluten-free diet was tried several times which was not effective. Workup for Hirschsprung’s disease was performed but colon was ganglionic. Evidence of liver involvement was approved by elevated liver enzymes and coarse echo of liver on sonography. Discussion. Trichoenterohepatic syndrome should be put in mind in cases of intractable diarrhea presenting in a family with several affected members. Early diagnosis would save patients from unnecessary workups.

  9. Comedonal Darier's disease: A case report

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    Ömer Faruk Elmas

    2014-12-01

    Full Text Available Darier's disease is an inherited dermatosis of hair follicles characterized by hyperkeratotic papules. The trunk and scalp are usually affected. Comedonal Darier's disease is a rare subtype of Darier's disease. Comedonal lesions are seen beside the typical signs. Our case was a 59-yearold woman presented with hyperkeratotic papules and comedonal lesions on her bilateral axillary area and trunk, and below the breasts. Focal parakeratosis, acantholytic dyskeratotic cells in these focuses, basophilic nuclear dusts, clefts, edema and perivascular nonspecific mononuclear cells infiltrations in dermis were found in histopathological investigations. We decided to report this case because comedonal Darier is a rare form of Darier's disease and there are only few reported cases in the literature.

  10. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

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    Pfeiffer Ronald F

    2010-04-01

    Full Text Available Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. Methods We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. Results The frequency of affected mothers of the proband with PD (83/167, 49.4% was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4% (Odds Ratio 1.22; 95%CI 0.83 - 1.81. After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. Conclusions These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic m

  11. Familial monomelic amyotrophy: a case report from India.

    Science.gov (United States)

    Nalini, A; Lokesh, L; Ratnavalli, E

    2004-05-15

    Monomelic amyotrophy (MMA) is a benign lower motor neuron disorder in the young with male preponderance. It is characterized by insidious onset and progressive weakness and wasting of a distal extremity over a few years followed by spontaneous arrest. The exact pathogenesis is unknown. It is predominantly a sporadic disorder but rarely familial forms have been documented. In this report, we describe the phenotype of a 21-year-old man and his mother who were diagnosed to have MMA. The index case presented with left upper limb weakness and wasting of 3 years duration while his mother had right upper limb amyotrophy and weakness of 34 years. A total of 190 patients were diagnosed to have MMA in our institute over the last 27 years and this is the first case of familial MMA.

  12. Attitude and knowledge of family medicine practitioners towards the association between periodontal disease and obesity.

    Science.gov (United States)

    Akram, Z; Abduljabbar, T; Hanif, A; Khan, A; Vohra, F

    2017-05-01

    To assess the attitude and knowledge of family medicine practitioners (FMPs) towards the association between periodontal disease and obesity. A cross-sectional study was performed and a 13-item survey questionnaire was given to FMPs practicing in 12 different teaching hospitals in Karachi, Pakistan. The questions were aimed at exploring the knowledge of FMP's regarding the association of obesity and periodontal disease and their attitude towards the association of obesity and periodontal disease. Chi-square and Spearman co-efficient were conducted to compare subgroups and correlate factors with the knowledge score of FMPs. A total of 314 questionnaires were completed (response rate = 92%). Median age of participants was 41 years and 57% were females. Almost 61% of FMPs answered all the knowledge questions correctly and 64% reported moderate understanding of the association between periodontal health and obesity. Nearly 73% FMPs inquired from obese patients regarding the periodontal disease and more than half (58%) refer patients to a dentist for evaluation. More than half of FMPs perform periodontal disease screening. Nearly all FMPs considered informing obese patients regarding periodontal disease as one of their roles. FMP's play an important role in the early diagnosis, prevention and treatment of periodontal conditions in obese patients. More than two thirds of FMPs showed good knowledge of the association of obesity and periodontal disease. The attitudes of FMPs towards assessing and referring obese patients at a risk of having periodontal disease were reassuring.

  13. RAB39B gene mutations are not linked to familial Parkinson’s disease in China

    Science.gov (United States)

    Kang, Ji-feng; Luo, Yang; Tang, Bei-sha; Wan, Chang-min; Yang, Yang; Li, Kai; Liu, Zhen-hua; Sun, Qi-ying; Xu, Qian; Yan, Xin-xiang; Guo, Ji-feng

    2016-01-01

    Recently, RAB39B mutations were reported to be a causative factor in patients with Parkinson’s disease (PD). To validate the role of RAB39B in familial PD, a total of 195 subjects consisting of 108 PD families with autosomal-dominant (AD) inheritance and 87 PD families with autosomal-recessive (AR) inheritance in the Chinese Han population from mainland China were included in this study. We did not identify any variants in the coding region or the exon-intron boundaries of the gene by Sanger sequencing method in the DNA samples of 180 patients (100 with AD and 80 with AR). Furthermore, we did not find any variants in the RAB39B gene when Whole-exome sequencing (WES) was applied to DNA samples from 15 patients (8 with AD and 7 with AR) for further genetic analysis. Additionally, when quantitative real-time PCR was used to exclude large rearrangement variants in these patients, we found no dosage mutations in RAB39B gene. Our results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population. PMID:27694831

  14. High Variability of Fabry Disease Manifestations in an Extended Italian Family

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    Giuseppe Cammarata

    2015-01-01

    Full Text Available Fabry disease (FD is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL. The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease.

  15. Molecular analysis of the (CAGN repeat causing Huntington′s disease in 34 Iranian families

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    Hormozian F

    2004-01-01

    Full Text Available Huntington′s disease (HD is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG n at the 5′ end of the IT 15 gene on chromosome 4. We have analyzed the distribution of CAG repeats in 71 Iranian individuals (34 patients and 37 unaffected family members belonging to 31 unrelated families thought to segregate HD. We found one expanded CAG allele in 22 individuals (65% belonging to 21 unrelated families. In these HD patients, expanded alleles varied from 40 to 83 CAG units and normal alleles varied from 13 to 36 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r= - 0.51; P=0. 1. In addition, we genotyped 25 unrelated control individuals (total of 50 alleles and found normal CAG repeats varying from 10 to 34 units. In conclusion, our results showed that molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling. This Study is the first report of molecular diagnosis of Huntington disease among Iranian population and ever in Middle East and with regard to high frequency of consanguinity marriage in this region.

  16. Spinocerebellar ataxia type 7: Report of an Indian family

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    Gurusidheshwar M Wali

    2013-01-01

    Full Text Available Spinocerebellar ataxia type 7 (SCA7 is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries . The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.

  17. Hippocampal Hyperactivation in Presymptomatic Familial Alzheimer’s Disease

    Science.gov (United States)

    Quiroz, Yakeel T.; Budson, Andrew E.; Celone, Kim; Ruiz, Adriana; Newmark, Randall; Castrillón, Gabriel; Lopera, Francisco; Stern, Chantal E.

    2011-01-01

    Objective The examination of individuals who carry fully penetrant genetic alterations that result in familial Alzheimer’s disease (FAD) provides a unique model for studying the early presymptomatic disease stages. In AD, deficits in episodic and associative memory have been linked to structural and functional changes within the hippocampal system. This study used functional MRI (fMRI) to examine hippocampal function in a group of healthy, young, cognitively-intact presymptomatic individuals (average age 33.7 years) who carry the E280A presenilin-1 (PS1) genetic mutation for FAD. These PS1 subjects will go on to develop the first symptoms of the disease around the age of 45 years. Our objective was to examine hippocampal function years before the onset of clinical symptoms. Methods Twenty carriers of the Alzheimer’s-associated E280A PS1 mutation and 19 PS1-negative control subjects participated. Both groups were matched for age, sex, education level, and neuropsychological test performance. All participants performed a face-name associative encoding task while in a Philips 1.5T fMRI scanner. Analysis focused on the hippocampal system. Results Despite identical behavioral performance, presymptomatic PS1 mutation carriers exhibited increased activation of the right anterior hippocampus during encoding of novel face-name associations compared to matched controls. Interpretation Our results demonstrate that functional changes within the hippocampal memory system occur years before cognitive decline in FAD. These presymptomatic changes in hippocampal physiology in FAD suggest that hippocampal fMRI patterns during associative encoding may also provide a preclinical biomarker in sporadic AD. PMID:21194156

  18. Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

    Science.gov (United States)

    Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S

    2015-08-01

    This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p'sfamily members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. The distinction of 'psychosomatogenic family types' based on parents' self reported questionnaire information: a cluster analysis.

    Science.gov (United States)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    2014-06-01

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of 12-year olds (n = 1428). We performed cluster analysis on 3 variables concerning parents' self-reported problems in family functioning. The distinguished clusters were examined for differences in marital problems, parental emotional problems, professional help for family members, demographics, and adolescents' somatization. Results showed the existence of 5 family types: 'chaotic family functioning,' 'average amount of family functioning problems,' 'few family functioning problems,' 'high amount of support and communication problems,' and 'high amount of sense of security problems' clusters. Membership of the 'chaotic family functioning' and 'average amount of family functioning problems' cluster was significantly associated with higher levels of somatization, compared with 'few family functioning problems' cluster membership. Among additional variables, only marital and parental emotional problems distinguished somatization relevant from non relevant clusters: parents in 'average amount of family functioning problems' and 'chaotic family functioning' clusters reported higher problems. The data showed that 'apparently perfect' or 'enmeshed' patterns of family functioning may not be assessed by means of parent report as adopted in this study. In addition, not only adolescents from 'extreme' types of family functioning may suffer from somatization. Further, professionals should be careful assuming that families in which parents report average to high amounts of family functioning problems also show different demographic characteristics.

  20. [Rosai-Dorfman disease: Case report].

    Science.gov (United States)

    Maffia, Silvia A; Peruffo, María V; Malvaso, Roque; Senor, Varinea; Pollono, Daniel; Altamirano, Eugenia M

    2015-12-01

    Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare dis order of unknown etiology, generally associated with enlargement of superficial and/or deep lymph nodes. Most patients do not require treatment. We report the case of a 10 month old infant who was admitted with a left cervical tumor of 25 days duration.

  1. Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Bigio, Eileen H; Johnson, Nancy A; Rademaker, Alfred W; Fung, Bing B; Mesulam, M-Marsel; Siddique, Nailah; Dellefave, Lisa; Caliendo, Janice; Freeman, Stefanie; Siddique, Teepu

    2004-08-01

    Ubiquitinated cytoplasmic inclusions (Ub-CIs) in superficial frontal cortex and dentate gyrus neurons are the hallmark of frontotemporal degeneration of the motor neuron disease-type (FTD-MND-type). To date, 2 reports have described intranuclear ubiquitinated inclusions (Ub-INIs) in 9 cases of familial FTD-MND-type (without clinical or pathologic motor neuron disease, MND). In the current study we found an additional 11 cases with Ub-INIs. We have identified for the first time among these cases 2 with a negative family history and 3 that have concomitant amyotrophic lateral sclerosis (ALS). The results of the present study i) confirm a previous report of significantly lower average brain weight and longer duration in cases with Ub-INIs, ii) reveal significantly greater striatal neuronal loss and gliosis in cases with intranuclear inclusions, and iii) demonstrate that intranuclear inclusions correlate with cytoplasmic inclusions and dystrophic neurites in frontal cortex and striatum but not in dentate gyrus. In addition, the current study confirms that Ub-INIs are found in familial FTD-MND-type, but also extends the presence of Ub-INIs to familial FTD-MND (with concomitant ALS), and probably also to non-familial FTD-MND-type.

  2. Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.

    Science.gov (United States)

    Gómez-Tortosa, Estrella; Barquero, Sagrario; Barón, Manuel; Gil-Neciga, Eulogio; Castellanos, Fernando; Zurdo, Martín; Manzano, Sagrario; Muñoz, David G; Jiménez-Huete, Adolfo; Rábano, Alberto; Sainz, M José; Guerrero, Rosa; Gobernado, Isabel; Pérez-Pérez, Julián; Jiménez-Escrig, Adriano

    2010-01-01

    We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare them with reported families with mutations in the same codons. Mutations were in exon 4 (Phe105Val), exon 5 (Pro117Arg, Glu120Gly), exon 6 (His163Arg), exon 7 (Leu226Phe), exon 8 (Val261Leu, Val272Ala, Leu282Arg), and exon 12 (Ile439Ser). Three of these amino acid changes (Phe105Val, Glu120Gly, and Ile439Ser) had not been previously reported. Distinct clinical features, including age of onset, symptoms and signs associated with the cortical-type dementia and aggressiveness of the disease, characterized the different mutations and were quite homogeneous across family members. Age of onset fell within a consistent range: some mutations caused the disease in the thirties (P117R, L226F, V272A), other in the forties (E120G, H163R, V261L, L282R), and other in the fifties (F105V, I439S). Associated features also segregated with specific mutations: early epileptic activity (E120G), spastic paraparesis (V261L), subcortical dementia and parkinsonism (V272A), early language impairment, frontal signs, and myoclonus (L226F), and late myoclonus and seizures (H163R, L282R). Neurological deterioration was particularly aggressive in PS1 mutations with earlier age of onset such as P117R, L226F, and E120G. With few exceptions, a similar clinical phenotype was found in families reported to have either the same mutation or different amino acid changes in the same codons. This series points to a strong influence of the specific genetic defect in the development of the clinical phenotype.

  3. Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

    Science.gov (United States)

    Chang, Xingzhi; Jin, Yiwen; Zhao, Haijuan; Huang, Qionghui; Wang, Jingmin; Yuan, Yun; Han, Ying; Qin, Jiong

    2013-03-01

    Central core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor type 1 gene. The clinical phenotype of the disease is highly variable. We report a Chinese pedigree with central core disease confirmed by the gene sequencing. All 3 patients in the family presented with mild proximal limb weakness. The serum level of creatine kinase was normal, and electromyography suggested myogenic changes. The histologic analysis of muscle biopsy showed identical central core lesions in almost all of the muscle fibers in the index case. Exon 90-106 in the C-terminal domain of the ryanodine receptor type 1 gene was amplified using polymerase chain reaction. One heterozygous missense mutation G14678A (Arg4893Gln) in exon 102 was identified in all 3 patients. This is the first report of a familial case of central core disease confirmed by molecular study in mainland China.

  4. Familial calcific band-shaped keratopathy: report of two new cases with early recurrence.

    Science.gov (United States)

    Arora, Ritu; Shroff, Daraius; Kapoor, Seema; Nigam, Sonu; Narula, Ritesh; Chauhan, Deepender; Jain, Priyanka

    2007-01-01

    We report two siblings with the rare entity of familial calcific band-shaped keratopathy (BSK). Detailed ophthalmic and systemic investigations failed to reveal any underlying causative pathology. Topical disodium ethylenediamine-tetraacetate (EDTA) was applied for 30 min to all four eyes. In addition the right eye of the younger sibling required a superficial keratectomy. An improvement in corneal clarity was seen in the immediate postoperative period in both siblings. Histopathology of the keratectomy specimen revealed linear extracellular sub-epithelial granular calcium deposits. However, an early recurrence was noted in all four eyes at four weeks postoperatively. We report the second instance in the English literature of this entity. Band-shaped keratopathy presenting without an obvious etiology merits a complete systemic and ophthalmic workup. Patients with familial idiopathic BSK could be cases with poor prognosis for treatment with EDTA due to an early recurrence of the disease.

  5. Familial calcific band-shaped keratopathy: Report of two new cases with early recurrence

    Directory of Open Access Journals (Sweden)

    Arora Ritu

    2007-01-01

    Full Text Available We report two siblings with the rare entity of familial calcific band-shaped keratopathy (BSK. Detailed ophthalmic and systemic investigations failed to reveal any underlying causative pathology. Topical disodium ethylenediamine-tetraacetate (EDTA was applied for 30 min to all four eyes. In addition the right eye of the younger sibling required a superficial keratectomy. An improvement in corneal clarity was seen in the immediate postoperative period in both siblings. Histopathology of the keratectomy specimen revealed linear extracellular sub-epithelial granular calcium deposits. However, an early recurrence was noted in all four eyes at four weeks postoperatively. We report the second instance in the English literature of this entity. Band-shaped keratopathy presenting without an obvious etiology merits a complete systemic and ophthalmic workup. Patients with familial idiopathic BSK could be cases with poor prognosis for treatment with EDTA due to an early recurrence of the disease.

  6. Clinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery

    Directory of Open Access Journals (Sweden)

    Jaqueline Scholz Issa

    2000-07-01

    Full Text Available Familial hypercholesterolemia is characterized by high serum levels of total cholesterol and LDL-cholesterol. It may be homozygous or heterozygous. In homozygous patients, LDL-cholesterol levels range from 500 to 1000mg/dL and coronary artery disease is precocious, usually manifesting itself between the 2nd and 3rd decades of life. The diagnosis is often made by the presence of xanthoma tuberosum and tendinous xanthomas that appear between the 1st and 2nd decades of life. The use of high doses of statins or even unusual procedures (apheresis, partial ileal bypass surgery, liver transplantation, gene therapy, or both, is necessary for increasing survival and improving quality of life, because a reduction in cholesterol levels is essential for stabilizing the coronary artery disease and reducing xanthomas. We report our experience with 3 patients with xanthomatous familial hypercholesterolemia and coronary artery disease, who underwent partial ileal bypass surgery. Their follow-up over the years (approximately 8 years showed a mean 30% reduction in total cholesterol, with a significant reduction in the xanthomas and stabilization of the coronary artery disease.

  7. Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy.

    Science.gov (United States)

    Alaygut, Demet; Torun-Bayram, Meral; Soylu, Alper; Kasap, Belde; Türkmen, Mehmet; Kavukçu, Salih

    2013-01-01

    Chronic kidney disease (CKD) is a life-long condition associated with substantial morbidity and premature death due to complications from a progressive decrease in kidney function. Especially in children, early diagnosis and detection of the etiologic factors are important to improve their health outcomes. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD. Genetic studies have revealed mutations in the uromodulin (UMOD) gene. Highlighting the importance of CKD in children, a 14-year-old girl with the rare diagnosis of FJHN is reported herein.

  8. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

    NARCIS (Netherlands)

    Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW

    1999-01-01

    Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormali

  9. Waardenburg Syndrome: A Report of Two Familial Case Series

    Directory of Open Access Journals (Sweden)

    Safal Khanal, BOptom

    2013-12-01

    Full Text Available Background: Waardenburg syndrome is a rare autosomally-inherited developmental disorder characterized by sensorineural deafness in association with pigmentary anomalies comprising various ocular features including dystopia canthorum, iris heterochromia, eyebrow flare, and fundus alterations. It is a congenital non-progressive genetic disorder that has been found to result in hearing loss, reduced vision, reduced self esteem, problems related to appearance, and decreased intellectual functioning.Case Reports: We report two familial case series that presented with the characteristic ocular findings and the systemic features of Waardenburg syndrome. The first series comprised a 32-year-old father with his two sons aged nine and six years. Two female siblings, aged 10 and eight years, both with cochlear implants, were included in the second series.Conclusion: Waardenburg syndrome manifests differently with dissimilar genetic penetration even within the same family. Some individuals will require no treatment, while others may need treatment or surgery for other abnormalities. Appropriate measures can be undertaken to negotiate the disabilities resulting from the ocular conditions associated with this syndrome.

  10. Adjustment for misclassification in studies of familial aggregation of disease using routine register data

    DEFF Research Database (Denmark)

    Andersen, Elisabeth Anne Wreford; Andersen, Per Kragh

    2002-01-01

    This paper discusses the misclassification that occurs when relying solely on routine register data in family studies of disease clustering. A register study of familial aggregation of schizophrenia is used as an example. The familial aggregation is studied using a regression model for the disease...... in the child including the disease status of the parents as a risk factor. If all the information is found in the routine registers then the disease status of the parents is only known from the time when the register started and if this information is used unquestioningly the parents who have had the disease...

  11. Predictors of Self-reported Sexually Transmitted Diseases among Homeless and Runaway Adolescents

    OpenAIRE

    Tyler, Kimberly A.; Whitbeck, Les B.; Hoyt, Dan R.; Yoder, Kevin A.

    2000-01-01

    Path analysis was used to investigate factors associated with self-reported sexually transmitted diseases among 569 homeless and runaway adolescents in four Midwestern states. Youth were interviewed by outreach workers directly on the streets, in shelters, and in drop-in centers. Results indicated that family abuse was positively related to substance use, affiliation with friends who sold sex, and time on own. Early family abuse indirectly increased the likelihood of self-reported sexually tr...

  12. The TET Family of Proteins: Functions and Roles in Disease

    Institute of Scientific and Technical Information of China (English)

    Adelene Y.Tan; James L.Manley

    2009-01-01

    Translocated in liposarcoma, Ewing's sarcoma and TATA-binding protein-associated factor 15 constitute an interesting and important family of proteins known as the TET proteins. The proteins function in several aspects of cell growth control, including multiple different steps in gene expression, and they are also found mutated in a number of specific diseases. For example, all contain domains for binding nucleic acids and have been shown to function in both RNA polymerase II-mediated transcription and premRNA splicing, possibly connecting these two processes. Chromosomal translocations in human sarcomas result in a fusion of the amino terminus of these proteins, which contains a transcription activation domain, to the DNA-binding domain of a transcription factor. Although the fusion proteins have been characterized in a clinical environment, the function of the cognate full-length protein in normal cells is a more recent topic of study. The first part of this review will describe the TET proteins, followed by detailed descriptions of their multiple roles in cells. The final sections will examine changes that occur in gene regulation in cells expressing the fusion proteins. The clinical implications and treatment of sarcomas will not be addressed but have recently been reviewed.

  13. Kikuchi-Fujimoto disease: three case reports

    Directory of Open Access Journals (Sweden)

    Alexandre de Andrade Sousa

    Full Text Available CONTEXT: Kikuchi-Fujimoto disease (KFD manifests in most cases as unilateral cervical lymphadenomegaly, with or without accompanying fever. The disease mainly affects young women and has a self-limited course. It is more common in oriental countries, with few reports of its occurrence in Brazil. KFD should be included in the differential diagnosis of suspected cases of viral infections, tuberculosis, reactive lymphadenitis, systemic lupus erythematosus and metastatic diseases. It can be histologically confused with lymphoma. The disease is benign and self-limiting and an excisional biopsy of an affected lymph node is necessary for diagnosis. There is no specific therapy. CASE REPORTS: This study reports on three cases of non-Asian female patients with KFD who were attended at our service between 2003 and 2006. A review of the literature was carried out, with a systematic search on this topic, with the aim of informing physicians about this entity that is manifested by cervical masses and fever.

  14. Family Health History Communication Networks of Older Adults: Importance of Social Relationships and Disease Perceptions

    Science.gov (United States)

    Ashida, Sato; Kaphingst, Kimberly A.; Goodman, Melody; Schafer, Ellen J.

    2013-01-01

    Older individuals play a critical role in disseminating family health history (FHH) information that can facilitate disease prevention among younger family members. This study evaluated the characteristics of older adults and their familial networks associated with two types of communication ("have shared" and "intend to share…

  15. Association between family members of dialysis patients and chronic kidney disease: a multicenter study in China

    Directory of Open Access Journals (Sweden)

    Kong Xianglei

    2013-01-01

    Full Text Available Abstract Background Family members of patients with end stage renal disease were reported to have an increased prevalence of chronic kidney disease (CKD. However, studies differentiated genetic and non-genetic family members are limited. We sought to investigate the prevalence of CKD among fist-degree relatives and spouses of dialysis patients in China. Methods Seventeen dialysis facilities from 4 cities of China including 1062 first-degree relatives and 450 spouses of dialysis patients were enrolled. Sex- and age- matched controls were randomly selected from a representative sample of general population in Beijing. CKD was defined as decreased estimated glomerular (eGFR 2 or albuminuria. Results The prevalence of eGFR less than 60 mL/min/1.73 m2, albuminuria and the overall prevalence of CKD in dialysis spouses were compared with their counterpart controls, which was 3.8% vs. 7.8% (P 2, albuminuria and the overall prevalence of CKD in dialysis relatives were also compared with their counterpart controls, which was 1.5% vs. 2.4% (P = 0.12, 14.4% vs. 8.4% (P  Conclusions The association between being family members of dialysis patients and presence of CKD is different between first-degree relatives and spouses. The underlying mechanisms deserve further investigation.

  16. Familial risk for lifestyle-related chronic diseases: can family health history be used as a motivational tool to promote health behaviour in young adults?

    Science.gov (United States)

    Prichard, I; Lee, A; Hutchinson, A D; Wilson, C

    2015-08-01

    Risk for colorectal cancer, breast cancer, heart disease and diabetes has both a familial and a lifestyle component. This quasi-experimental study aimed to determine whether a Family Health History (FHH) assessment and the subsequent provision of risk information would increase young adults' (17-29 years) intentions to modify health behaviours associated with the risk of these chronic diseases (i.e. alcohol consumption, fruit and vegetable intake and physical activity) and to talk to their family about their risk. After baseline measures of current and intended health-related behaviours, participants (n = 116) were randomly allocated to either a FHH assessment or control information. Based on the FHH provided, participants in the FHH condition were then classified as 'above-average risk' or 'average risk'. One week later, participants were provided with tailored health information and completed follow-up measures of intended health-related behaviours and perceived vulnerability. Participants classified as 'above-average risk' had increased perceptions of vulnerability to a chronic disease. Despite this, no group differences were found in intentions to change physical activity or fruit and vegetable consumption. Participants with above-average risk reported greater intentions to decrease the frequency of their alcohol consumption than average risk/control participants. In addition, completing a FHH assessment promoted intended communication with family members about chronic disease risk. FHH assessments may have the greatest value within the family context. SO WHAT? Future research could examine the impact of providing FHH information to different family members as a health promotion strategy.

  17. G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia.

    Science.gov (United States)

    Pchelina, Sofya N; Yakimovskii, Andrei F; Ivanova, Olga N; Emelianov, Anton K; Zakharchuk, Andrei H; Schwarzman, Alexander L

    2006-12-01

    Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group.

  18. Family history of premature death and risk of early onset cardiovascular disease

    DEFF Research Database (Denmark)

    Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina;

    2012-01-01

    The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease.......The purpose of this study was to examine the effect of a family history of premature death, cardiovascular death in particular, on the risk of early cardiovascular disease....

  19. INFLUENCE OF A POSITIVE FAMILY HISTORY AND ASSOCIATED ALLERGIC DISEASES ON THE NATURAL COURSE OF ASTHMA

    NARCIS (Netherlands)

    ROORDA, RJ; GERRITSEN, J; VANAALDEREN, WMC; KNOL, K

    1992-01-01

    The outcome of childhood asthma was studied in a cohort of 406 asthmatic children, with emphasis on the influence of family history for allergic disease, as well as the influence of associated allergic diseases on prognosis. Sixty-two per cent had a positive family history for atopy. In young adulth

  20. Clinical Guidance on Screening Chronic Kidney Disease in Type 2 Diabetic Patients for Family Physicians

    Directory of Open Access Journals (Sweden)

    Seyed Esmaeil Managheb

    2015-10-01

    Full Text Available Incidence of diabetes is increasing in developing countries as well as Iran. Half of the patients are not aware of their disease so screening of diabetes is necessary. Lifestyle changes in society, high-saturated fat diet and decreased physical activity are the factors that influence the growing rate of diabetes in Iran.1 The need for addressing type 2 diabetes has been clarified for family physicians.2 Diabetes is a common disease that is associated with significant morbidity and mortality. It has an asymptomatic stage that may be present for up to several years before diagnosis.3 Diabetes is the leading cause of kidney disease.4 In a study among patients over 45 years with type 2 diabetes, these results were reported: 22% suffered from retinopathy, 7% had impaired vision, 6% had kidney diseases, 9% had clinical symptoms, and 19.1% were at risk for foot ulcers.5 Early treatment of type 2 diabetes can reduce or delay complications.6 Optimal glycemia and BP are important in the prevention of diabetic chronic kidney disease (CKD.4 Therapeutic goals in patients with complications, such as CKD, include maintaining renal function and stopping the trend of renal deterioration.5 Progression of diabetic nephropathy can be slowed through the use of some medications.4 How to screen and manage chronic kidney disease in patients with type 2 diabetes is shown in Figure 1.

  1. Zika Virus Disease in Colombia - Preliminary Report.

    Science.gov (United States)

    Pacheco, Oscar; Beltrán, Mauricio; Nelson, Christina A; Valencia, Diana; Tolosa, Natalia; Farr, Sherry L; Padilla, Ana V; Tong, Van T; Cuevas, Esther L; Espinosa-Bode, Andrés; Pardo, Lissethe; Rico, Angélica; Reefhuis, Jennita; González, Maritza; Mercado, Marcela; Chaparro, Pablo; Martínez Duran, Mancel; Rao, Carol Y; Muñoz, María M; Powers, Ann M; Cuéllar, Claudia; Helfand, Rita; Huguett, Claudia; Jamieson, Denise J; Honein, Margaret A; Ospina Martínez, Martha L

    2016-06-15

    Background Colombia began official surveillance for Zika virus disease (ZVD) in August 2015. In October 2015, an outbreak of ZVD was declared after laboratory-confirmed disease was identified in nine patients. Methods Using the national population-based surveillance system, we assessed patients with clinical symptoms of ZVD from August 9, 2015, to April 2, 2016. Laboratory test results and pregnancy outcomes were evaluated for a subgroup of pregnant women. Concurrently, we investigated reports of microcephaly for evidence of congenital ZVD. Results By April 2, 2016, there were 65,726 cases of ZVD reported in Colombia, of which 2485 (4%) were confirmed by means of reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay. The overall reported incidence of ZVD among female patients was twice that in male patients. A total of 11,944 pregnant women with ZVD were reported in Colombia, with 1484 (12%) of these cases confirmed on RT-PCR assay. In a subgroup of 1850 pregnant women, more than 90% of women who were reportedly infected during the third trimester had given birth, and no infants with apparent abnormalities, including microcephaly, have been identified. A majority of the women who contracted ZVD in the first or second trimester were still pregnant at the time of this report. Among the cases of microcephaly investigated from January 2016 through April 2016, four patients had laboratory evidence of congenital ZVD; all were born to asymptomatic mothers who were not included in the ZVD surveillance system. Conclusions Preliminary surveillance data in Colombia suggest that maternal infection with the Zika virus during the third trimester of pregnancy is not linked to structural abnormalities in the fetus. However, the monitoring of the effect of ZVD on pregnant women in Colombia is ongoing. (Funded by Colombian Instituto Nacional de Salud and the Centers for Disease Control and Prevention.).

  2. A case report of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Anita Choudhary

    2017-09-01

    Full Text Available Huntington disease (HD is a progressive neurodegenerative disorder, characterized by autosomal dominant inheritance, movement disorder, dementia, and behavioural disturbances. It is caused by a mutation in IT15 gene on chromosome 4p16.3, which leads to unstable CAG trinucleotide repeat expansion. The onset of juvenile HD occurs before the 2nd decade of life and comprises approximately 10% of total HD patients. Juvenile HD differs in symptomatology and is usually transmitted from paternal side with genetic anticipation phenomenon. Magnetic resonance imaging (MRI of the brain shows specific changes of early affection of caudate nucleus and putamen. Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial. Hereby, we introduce a case of an 8-year-old boy, who presented with typical symptoms of juvenile HD, positive family history with genetic anticipation phenomenon and characteristic MRI findings.

  3. Dejerine-Sottas disease: a case report

    Directory of Open Access Journals (Sweden)

    Jaqueline Luvisotto Marinho

    Full Text Available CONTEXT: Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. OBJECTIVE: The objective of the present work was to describe a case of Dejerine-Sottas disease. CASE REPORT: A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.

  4. Menkes Disease: Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Mohammad Barzegar

    2007-09-01

    Full Text Available Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair abnormalities.Case Presentation: We report on two cases of classical Menkes disease with typical history, (progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance, with brittle, scattered and hypopigmented scalp hairs, and progression. Light microscopic examination of the hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis.Conclusion: Menkes disease is an under-diagnosed entity, being familiar with its manifestation and maintaining high index of suspicion are necessary for early diagnosis.

  5. Leigh’s Disease: A case Report

    Directory of Open Access Journals (Sweden)

    Nikhil Verma

    2014-12-01

    Full Text Available Leigh disease is a progressive degenerative, mitochondrial disorder of childhood with most cases become apparent during infancy. In most cases it presents as a progressive neurological disease with motor and intellectual developmental delay, developmental regression and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuro imaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 3years old male child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh’s disease.

  6. Genetic diagnosis of Huntington's disease: cases report

    Institute of Scientific and Technical Information of China (English)

    Liao Ting-ting; Wu Wei; Wan Qi; Cui Yu-gui; Liu Jia-yin

    2011-01-01

    Objective:To assess the efficiency of the PCR combined DNA sequencing to ascertain CAG repeat size of Huntington's disease(HD)gene as for gene diagnosis of HD.Method:Three patients with HD were diagnosed genetically with the technology of polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis by assessing the CAG repeat size of HD gene.DNA sequencing then was used as verification test for HD gene.Results:Nine members of three nuclear families were included in this study,three patients were HD proband.In those families,CAG repeats of all spouse of propositus were in normal range.CAG repeats of all propositus and their descendants with the normal allele were in normal range,while CAG copy number of the other mobigenous allele was obviously abnormal.Conclusion:PCR combined DNA sequencing can be used to effectively ascertain CAG repeat of HD gene.CAG-repeat expansion mutations were accounted for 99% of HD cases,so HD can be accurately diagnosed by this method.

  7. Self-reported Disability in Patients with Inflammatory Bowel Disease Largely Determined by Disease Activity and Illness Perceptions

    NARCIS (Netherlands)

    van der Have, Mike; Fidder, Herma H.; Leenders, Max; Kaptein, Ad A.; van der Valk, Mirthe E.; van Bodegraven, Ad A.; Dijkstra, Gerard; de Jong, Dirk J.; Pierik, Marieke; Ponsioen, Cyriel Y.; van der Meulen-de Jong, Andrea E.; van der Woude, C. Janneke; van de Meeberg, Paul C.; Romberg-Camps, Marielle J. L.; Clemens, Cees H. M.; Jansen, Jeroen M.; Mahmmod, Nofel; Bolwerk, Clemens J. M.; Vermeijden, J. Reinoud; Siersema, Peter D.; Oldenburg, Bas

    Background:The inflammatory bowel disease (IBD) disability index has recently been introduced to measure patients' physical, psychological, familial, and social limitations associated with IBD. We assessed factors related to self-reported disability and the relationship between disability and direct

  8. Mollaret meningitis: case report with a familial association.

    Science.gov (United States)

    Jones, Christopher W; Snyder, Graham E

    2011-09-01

    Mollaret meningitis is a syndrome characterized by recurrent bouts of meningitis that occur over a period of several years in an affected patient. Also known as recurrent lymphocytic meningitis, this entity involves repeated episodes of headache, stiff neck, fever, and cerebrospinal fluid pleocytosis. Herpes simplex virus type 2 is the most frequently implicated causative agent, and treatment involves the use of antiviral medications. We describe a case of Mollaret meningitis in a 47-year-old man who presented to the emergency department with his eighth episode of meningitis during a period of 20 years. Cerebrospinal fluid polymerase chain reaction testing for herpes simplex virus type 2 was positive, and further testing excluded other common viral, bacterial, and inflammatory causes of meningeal irritation. The patient's family history was significant for a brother who also had multiple episodes of aseptic meningitis during a period of several years. This represents the first published report of a possible familial association involving Mollaret meningitis. It is likely that Mollaret meningitis is underrecognized among emergency physicians, and improved recognition of this entity may limit unwarranted antibiotic use and shorten or eliminate unnecessary hospital admission.

  9. [Familial hemiplegic migraine type 2: two paediatric case reports].

    Science.gov (United States)

    Toledo-Bravo de Laguna, Laura; Santana-Rodríguez, Alfredo; Cabrera-López, José C; Santana-Artiles, Alexandre; Sebastián-García, Irma

    2012-02-16

    Familial hemiplegic migraine is a rare subtype of migraine with aura that includes, as it progresses, a motor defect together with visual or sensory symptoms or speech disorders. It may be associated to symptoms such as basilar migraine, coma and convulsions. Familial hemiplegic migraine type 2 accounts for 25% of them. Two patients, who started at the age of 4 years with episodes of motor deficits or seizures, together with an important sensory disorder that lasted for hours, which were sometimes triggered by banal traumatic injuries. A detailed description of the clinical and developmental features, as well as the studies conducted, is provided. The genetic study revealed mutations in gene ATP1A2: in one case this consisted in a nucleotide substitution in exon 18 (G2501A) that had already been reported, while in the other case there was a previously unknown change (c.381+3 G>T) in intron 4. We recommend that this condition should be suspected when a disagreement between the duration or the severity of the seizures and the duration and characteristics of the ensuing stupor is detected.

  10. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.

    Science.gov (United States)

    Ogun, Shamsideen Abayomi; Martins, Sandra; Adebayo, Philip B; Dawodu, Clara O; Sequeiros, Jorge; Finkel, Michael F

    2015-02-01

    Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent, predominant in families of Portuguese extraction, and the Joseph lineage, which is much older and worldwide spread, postulated to have an Asian origin. We report a Nigerian family with MJD from Calabar, once settled by Portuguese slave traders, and assessed its mutational origin. The proband was a 33-year-old man with progressive unsteady gait, weakness of all limbs, dysphagia, dysarthria, urinary frequency and diaphoresis. He had end-of-gaze nystagmus, spastic quadriparesis and atrophic small muscles of the hand. He showed fibrillation potentials on EMG, and nerve conduction studies suggested a central axonopathy without demyelination. This family bears the Joseph haplotype, which has a founder effect in the island of Flores, in the Azores (and their descendants in North-America), but is also the most common in non-Portuguese populations worldwide, with an estimated mutation age of around 7000 years.

  11. Reported practice patterns among family physicians with a geriatrics certificate of added qualifications.

    Science.gov (United States)

    Peterson, Lars E; Cochrane, Anneli; Bazemore, Andrew W; Petterson, Stephen

    2015-01-01

    Practice patterns of family physicians with additional certification are unknown but are important to workforce planners and policymakers, who may presume that all family physicians provide primary care to patients of all ages. We found that a majority of family medicine geriatricians self-report practicing primarily geriatric medicine. © Copyright 2015 by the American Board of Family Medicine.

  12. Partners Plus: Families and Caregivers in Partnerships. Model Demonstration. Final Report.

    Science.gov (United States)

    Garland, Corrine W.; Frank, Adrienne; Ownby, Lisa L.

    This final report discusses the activities and outcomes of Partners Plus: Families and Caregivers in Partnerships, a model demonstration project designed to expand respite care options for families of children (birth to 8 years old) with disabilities. The program uses a natural and family-centered model that involves families in the design,…

  13. Five cases of a Joseph disease family with non-REM sleep apnea and MRI study

    Energy Technology Data Exchange (ETDEWEB)

    Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru

    1987-09-01

    Four male and one female patients of a new Joseph disease family in southern Kyushu are presented. This disorder is inherited by autosomal dominant trait. The clinical symptoms are characterized by bulging eyes, ophthalmoplegia, dysarthria, rigospasticity of the lower limbs, marked dystonia and bradykinesia. In our cases, extrapyramidal symptoms were improved by amantadine and L-dopa therapy. CSF homovanilic acid (HVA) was markedly reduced. Muscle biopsy and electromyographic studies revealed neurogenic changes. MRI revealed mild atrophy of frontal lobe and cerebellum, and marked atrophy of brain stem. These findings were consistent with the clinical manifestations. Our case had central type sleep apnea by sleep EEG and polygraphic studies. This is the first report about sleep apnea and MRI of Joseph disease.

  14. Familial associations of Alzheimer disease and essential tremor with Parkinson disease.

    Science.gov (United States)

    Costello, S; Bordelon, Y; Bronstein, J; Ritz, B

    2010-06-01

    We constructed a cohort of first-degree relatives of participants in a population-based case-control study of Parkinson disease (PD) and compared the occurrence of Alzheimer disease (AD) and essential tremor (ET) in relatives of PD cases and controls. We relied on proband interviews to assess family history in 372 probands with incident PD confirmed by a movement disorder specialist and 404 controls from three rural California counties. Overall, for the 2980 first-degree relatives of PD cases, the risk of AD was not increased compared with the 2981 relatives of controls. But relatives of younger onset PD cases (familial susceptibility to AD amongst first-degree relatives of younger onset PD cases.

  15. Dizziness reported by elderly patients in family practice: prevalence, incidence, and clinical characteristics

    Directory of Open Access Journals (Sweden)

    van Weert Henk C

    2010-01-01

    Full Text Available Abstract Background Although dizziness in elderly patients is very common in family practice, most prevalence studies on dizziness are community-based and include a study population that is not representative of family practice. The aim of this study was to investigate the prevalence and incidence of dizziness reported by elderly patients in family practice, to describe their final diagnoses as recorded by the family physician, and to compare the clinical characteristics of dizzy patients with those of non-dizzy patients. Methods Data were obtained from the Second Dutch National Survey of General Practice, a prospective registration study which took place over a 12-month period in 2001. We developed a search strategy consisting of 15 truncated search terms (based on Dutch synonyms for dizziness, and identified all patients aged 65 or older who visited their family physician because of dizziness (N = 3,990. We used the mid-time population as denominator to calculate the prevalence and incidence, and for group comparisons we used the Student's t and Chi-square test, and logistic regression analysis. Results The one-year prevalence of dizziness in family practice in patients aged 65 or older was 8.3%, it was higher in women than in men, and it increased with age. In patients aged 85 or older the prevalence was similar for men and women. The incidence of dizziness was 47.1 per 1000 person-years. For 39% of the dizzy patients the family physicians did not specify a diagnosis, and recorded a symptom diagnosis as the final diagnosis. Living alone, lower level of education, pre-existing cerebrovascular disease, and pre-existing hypertension were independently associated with dizziness. Conclusions Dizziness in family practice patients increases with age. It is more common in women than in men, but this gender difference disappears in the very old. Because a large proportion of dizzy elderly patients in family practice remains undiagnosed, it would be

  16. Delirium Associated with Donepezil in a Patient with Alzheimer’s Disease: a Case Report

    Directory of Open Access Journals (Sweden)

    Kamyar Mollazadeh-Moghaddam

    2013-03-01

    Full Text Available Donepezil, a member of the acetylcholinesterase inhibitor family, is approved for management of cognitive impairments as well as behavioral complications in patients with neurodegenerative Alzheimer's disease. Generally, donepezil is regarded as a safe medication in patients with Alzheimer’s disease although there have been reports of several minor adverse events including gastrointestinal disturbances. Herein we describe a patient with Alzheimer’s disease who demonstrated delirious behavior upon treatment with donepezil.

  17. Emergency Temporary Assistance for Needy Families Data Report System (ETDR)

    Data.gov (United States)

    U.S. Department of Health & Human Services — Race data of each family member as a part of the demographic characteristics data of families receiving assistance under the State's Temporary Assistance for Needy...

  18. Nonalcoholic fatty liver disease and familial Mediterranean fever: Are they related?

    OpenAIRE

    Sarkis Cihat; Caglar Erkan; Ugurlu Serdal; Cetinkaya Emel; Tekin Nilüfer; Arslan Mubeccel; Özdemir Sebati; Tuncer Murat

    2012-01-01

    Introduction. Familial Mediterranean fever (FMF) is a periodic febrile disease characterized by acute recurrent episodes of serositis. Liver disease is not considered a part of the spectrum of clinical manifestations of FMF. Objective. The purpose of this study was to characterize the nonalcoholic fatty liver disease (NAFLD) that could be associated with familial Mediterranean fever (FMF). Methods. Clinical findings and treatment information of the patients with FMF were obtained from o...

  19. Collection of family health history for assessment of chronic disease risk in primary care.

    Science.gov (United States)

    Powell, Karen P; Christianson, Carol A; Hahn, Susan E; Dave, Gaurav; Evans, Leslie R; Blanton, Susan H; Hauser, Elizabeth; Agbaje, Astrid; Orlando, Lori A; Ginsburg, Geoffrey S; Henrich, Vincent C

    2013-01-01

    Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in primary care. Family health history data were collected and analyzed to determine the presence of quality indicators that are necessary for effective and accurate assessment of disease risk. More than 99% of the 390 paper charts analyzed contained information about family health history, which was usually scattered throughout the chart. Information on the health of the patient's parents was collected more often than information on the health of other relatives. Key information that was often not collected included age of disease onset, affected side of the family, and second-degree relatives affected. Less than 4% of patient charts included family health histories that were informative enough to accurately assess risk for common complex diseases. Limitations of this study include the small number of charts reviewed per provider, the fact that the sample consisted of primary care providers in a single geographic location, and the inability to assess ethnicity, consanguinity, and other indicators of the informativeness of family health history. The family health histories collected in primary care are usually not complete enough to assess the patient's risk for common complex diseases. This situation could be improved with use of tools that analyze the family health history information collected and provide risk-stratified decision support recommendations for primary care.

  20. Genetic polymorphism of MMP family and coronary disease susceptibility: a meta-analysis.

    Science.gov (United States)

    Li, Min; Shi, Jingpu; Fu, Lingyu; Wang, Hailong; Zhou, Bo; Wu, Xiaomei

    2012-03-01

    The issue that genetic polymorphism of matrix metalloproteinase (MMP) family is in association with coronary disease is controversial. So we did a meta-analysis to clarify it clearly. We made a literature search of PubMed, the Web of Science, and Cochrane Collaboration's database to identify eligible reports. The methodological quality of each included studies was assessed. We calculated the pooled ORs with their 95%CI for each genetic polymorphism in STATA 11 software. Separate analysis was performed to address the consistency of results across the subgroup with different continents. A total of 39 studies were included, with a sample of 42269 individuals. This meta-analysis provided evidence that genetic polymorphism of MMP1-1607 1G/2G, MMP3-Gly45lys, MMP3-376 G/C, MMP3-1171 5A/6A, MMP9-1562 C/T and MMP9-R279Q have a small to medium effect on incidence of coronary disease. There was no evidence that MMP1-519 A/G, MMP1-340 T/C and MMP2-1306 C/T polymorphism could increase risk of coronary disease. Results from subgroup analysis supported a relation between MMP3-1711 5A allele, MMP9-1562 C allele and coronary disease especially in Asian population. The results provide moderate association between the six common genetic polymorphism of matrix metalloproteinase family and coronary disease. However, the challenge for researcher is identifying separate effect on different races.

  1. The Efficacy of Family Camp Experience for Families Who Have Children with Visual Impairments. Research Report

    Science.gov (United States)

    Day, Janice Neibaur; Kleinschmidt, Julia

    2005-01-01

    This study was designed to address the paucity of research on the efficacy of camps for children with visual impairments and their families. The study evaluated the performance of a two-day camp for families with young visually impaired children at the Utah Schools for the Deaf and the Blind whose program was based on perceived family needs and…

  2. Hereditary Angioedema: Three Cases Report, Members of the Same Family

    Directory of Open Access Journals (Sweden)

    Alexandros Kolokotronis

    2010-01-01

    Full Text Available Background: This current clinical case report highlights three cases of Hereditary angioedema (HAE patients who are all members of the same family (father and his two daughters. The father has C1–INH deficiency, while his daughters have low C1–INH levels: the first possesses only 10% function and the second has low C1–INH level with 0% function. Of note, the second daughter was discovered to have HAE at the age of 2, thus making her the youngest known HAE case report in the English literature.Methods: Assess the efficacy of administration of C1-INH before dental operation as regards the prevention of HAE episode, when total or partial C1-INH deficiency exists.Results: Acute angioedema leading to laryngeal oedema is a possibly fatal complication for HAE patients undergoing dental procedures. Use of both short-term and long-term HAE prophylaxis prior to dental operations might be life saving for those patients.Conclusions: Prevention and early recognition of potential laryngeal oedema that can occur as a complication of dental procedures may be lifesaving for HAE patients.

  3. Chagas' Disease: an acute transfusional case report

    Directory of Open Access Journals (Sweden)

    Dalva Marli Valério Wanderley

    1988-12-01

    Full Text Available Report of a case of acute transfusional Chagas'disease in a four-year-old child with a previous diagnosis of acute lymphocytic leukemia, transmitted in São Paulo, the Capital of São Paulo State, Brazil. Epidemiological investigation disclosed the donor's serological positivity and his previous residence in an area where Chagas' disease is endemic. The importance of adequate sorological screening in blood donors is evident. It should be stressed that this is the first case notified to the Superintendência de Controle de Endemias (SUCEN (Superintendency for the Endemy Control of the State Secretariat of Health, São Paulo, for the last five years.

  4. A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

    Science.gov (United States)

    Edwards, Noel; Rice, Sarah J; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; Xu, Yaobo; Santibanez-Koref, Mauro; Thwaites, David T; Gale, Daniel P; Sayer, John A

    2015-02-01

    End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant disorder that may lead to ESRD caused by mutations in the transcription factor LMX1B. Renal-limited forms of this disease, termed nail-patella-like renal disease (NPLRD), and LMX1B nephropathy have recently been described. We report a large family, from the North East of England, with seven affected members with varying phenotypes of renal disease, ranging from ESRD at 28 years of age to microscopic haematuria and proteinuria and relatively preserved renal function. In this family, there were no extra-renal manifestations to suggest NPS. Genome-wide linkage studies and inheritance by descent (IBD) suggested disease loci on Chromosome 1 and 9. Whole exome sequencing (WES) analysis identified a novel sequence variant (p.R249Q) in the LMX1B gene in each of the three samples submitted, which was confirmed using Sanger sequencing. The variant segregated with the disease in all affected individuals. In silico modelling revealed that R249 is putatively located in close proximity to the DNA phosphoskeleton, supporting a role for this residue in the interaction between the LMX1B homeodomain and its target DNA. WES and analysis of potential target genes, including CD2AP, NPHS2, COL4A3, COL4A4 and COL4A5, did not reveal any co-inherited pathogenic variants. In conclusion, we confirm a novel LMX1B mutation in a large family with an autosomal dominant pattern of nephropathy. This report confirms that LMX1B mutations may cause a glomerulopathy without extra-renal manifestations. A molecular genetic diagnosis of LMX1B nephropathy thus provides a definitive diagnosis, prevents the need for renal biopsies and allows at risk family members to be screened.

  5. Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study.

    Science.gov (United States)

    Ishikawa, Noriyoshi; Amano, Chika; Taketani, Takeshi; Kumori, Koji; Harada, Yuji; Hiraiwa, Hisayuki; Itamura, Kayoko; Maruyama, Riruke

    2015-07-16

    Nephrogenic adenoma, also referred to nephrogenic metaplasia, is a benign proliferative lesion of urothelium, usually associated with chronic physical stimuli or inflammation. Familial Mediterranean fever is an inherited autosomal recessive disease characterized by recurrent short episodes of fever. The site of mutation is found in MEFV gene which controls inflammatory responses. We have experienced a case of nephrogenic adenoma in a 16-year-old girl with Familial Mediterranean Fever, showing proliferative lesions diffusely in the urinary bladder and multifocally in the other parts of urinary tract. These lesions disappeared after colchicine treatment. We searched for MEFV gene mutation using the specimen from the resected urinary bladder and detected heterozygous mutation of E148Q. There is a possibility that control of inflammation caused by the surgery for vesicoureteral reflux in the local site didn't work well on the background of heterozygous mutation of MEFV gene, and as a result, nephrogenic adenoma appeared. This is the first report of a combination of two rare diseases. We have to be aware that nephrogenic adenoma can occur in association with Familial Mediterranean Fever, and the former condition should be taken into consideration when rendering a correct pathological diagnosis.

  6. Pesticide exposure and risk of Parkinson's disease: A family-based case-control study

    Directory of Open Access Journals (Sweden)

    Scott Burton L

    2008-03-01

    Full Text Available Abstract Background Pesticides and correlated lifestyle factors (e.g., exposure to well-water and farming are repeatedly reported risk factors for Parkinson's disease (PD, but few family-based studies have examined these relationships. Methods Using 319 cases and 296 relative and other controls, associations of direct pesticide application, well-water consumption, and farming residences/occupations with PD were examined using generalized estimating equations while controlling for age-at-examination, sex, cigarette smoking, and caffeine consumption. Results Overall, individuals with PD were significantly more likely to report direct pesticide application than their unaffected relatives (odds ratio = 1.61; 95% confidence interval, 1.13–2.29. Frequency, duration, and cumulative exposure were also significantly associated with PD in a dose-response pattern (p ≤ 0.013. Associations of direct pesticide application did not vary by sex but were modified by family history of PD, as significant associations were restricted to individuals with no family history. When classifying pesticides by functional type, both insecticides and herbicides were found to significantly increase risk of PD. Two specific insecticide classes, organochlorines and organophosphorus compounds, were significantly associated with PD. Consuming well-water and living/working on a farm were not associated with PD. Conclusion These data corroborate positive associations of broadly defined pesticide exposure with PD in families, particularly for sporadic PD. These data also implicate a few specific classes of pesticides in PD and thus emphasize the need to consider a more narrow definition of pesticides in future studies.

  7. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.

    Science.gov (United States)

    Ramm-Pettersen, Anette; Nakken, Karl O; Haavardsholm, Kathrine C; Selmer, Kaja Kristine

    2017-05-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS. All members were offered genetic testing of the SLC2A1 gene. Affected members were offered treatment with ketogenic diet, and the effect of the treatment was registered. We sequenced the SLC2A1 gene in 13 members, and found that 10, all with symptoms, had the c.823G>A (p.Ala275Thr) variant. All affected members had experienced early-onset epilepsy, paroxysmal exercise-induced dyskinesias, and most had mild learning disability. Moreover, some had symptoms and signs of a distal neuropathy in addition to reduced sense of orientation and excessive daytime sleep. Their load of symptoms had decreased over the years, although that they never had received any treatment. Nevertheless, those who started dietary treatment all experienced an improved quality of life. We report a four-generation family with GLUT1-DS where the disease has a mild course, even when untreated. In addition to classical GLUT1-DS features, we also describe symptoms which have never been reported in GLUT1-DS previously. As such, this family extends the phenotypic spectrum of GLUT1-DS and underlines the importance of diagnosing also relatively mildly affected patients, even in adult life, as they also seem to benefit from dietary treatment. Published by Elsevier Inc.

  8. Individual and family strengths: an examination of the relation to disease management and metabolic control in youth with type 1 diabetes.

    Science.gov (United States)

    Mackey, Eleanor Race; Hilliard, Marisa E; Berger, Sarah Shafer; Streisand, Randi; Chen, Rusan; Holmes, Clarissa

    2011-12-01

    We examined the association of youths' positive qualities, family cohesion, disease management, and metabolic control in Type 1 diabetes. Two-hundred fifty-seven youth-parent dyads completed the Family Cohesion subscale of the Family Environment Scale, the Diabetes Behavior Rating Scale, 24-hour diabetes interview, and youth completed the Positive Qualities subscale of the Youth Self Report (YSR-PQ). Structural equation modeling demonstrated that YSR-PQ scores were associated with metabolic control mediated by associations with more family cohesion and better disease management. That is, youth with higher YSR-PQ scores had more cohesive families, better disease management, and, indirectly, better metabolic control. Family cohesion was indirectly associated with better metabolic control mediated by its association with better disease management, but not mediated by its association with YSR-PQ scores. Youth who reported more positive qualities, as measured by the YSR-PQ subscale, had better disease management and metabolic control through the association with more family cohesion. However, the current results did not support an alternative hypothesis that cohesive families display better diabetes management mediated by higher YSR-PQ scores.

  9. Family History of Alzheimer's Disease and Cortical Thickness in Patients With Dementia.

    Science.gov (United States)

    Ganske, Steffi; Haussmann, Robert; Gruschwitz, Antonia; Werner, Annett; Osterrath, Antje; Baumgaertel, Johanna; Lange, Jan; Donix, Katharina L; Linn, Jennifer; Donix, Markus

    2016-08-01

    A first-degree family history of Alzheimer's disease reflects genetic risks for the neurodegenerative disorder. Recent imaging data suggest localized effects of genetic risks on brain structure in healthy people. It is unknown whether this association can also be found in patients who already have dementia. Our aim was to investigate whether family history risk modulates regional medial temporal lobe cortical thickness in patients with Alzheimer's disease. We performed high-resolution magnetic resonance imaging and cortical unfolding data analysis on 54 patients and 53 nondemented individuals. A first-degree family history of Alzheimer's disease was associated with left hemispheric cortical thinning in the subiculum among patients and controls. The contribution of Alzheimer's disease family history to regional brain anatomy changes independent of cognitive impairment may reflect genetic risks that modulate onset and clinical course of the disease.

  10. Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease.

    Science.gov (United States)

    Lippa, C F; Schmidt, M L; Lee, V M; Trojanowski, J Q

    2001-11-01

    Alpha-synuclein is a major component of Lewy bodies (LBs) in Parkinson disease and dementia with LBs and of glial cytoplasmic inclusions in multiple system atrophy. However, epitope mapping for alpha-synuclein is distinctive in different neurodegenerative diseases. The reasons for this are poorly understood but may reflect fundamental differences in disease mechanisms. To investigate the alpha-synuclein epitope mapping properties of LBs in familial Alzheimer disease. We compared LBs in familial Alzheimer disease with those in synucleinopathies by probing 6 brains of persons with familial Alzheimer disease using a panel of antibodies to epitopes spanning the alpha-synuclein protein. Results were compared with data from brains of persons with Parkinson disease, dementia with LBs, and multiple system atrophy. The brains of persons with familial Alzheimer disease showed consistent staining of LBs with all antibodies, similar to Parkinson disease and dementia with LBs but different from alpha-synuclein aggregates that occurred in multiple system atrophy. These data suggest that the epitope profiles of alpha-synuclein in LBs are similar, regardless of whether the biological trigger is related to synuclein or a different genetic pathway. These findings support the hypothesis that the mechanism of alpha-synuclein aggregation is the same within cell types but distinctive between cell types.

  11. Emerging models for mobilizing family support for chronic disease management: a structured review.

    Science.gov (United States)

    Rosland, Ann-Marie; Piette, John D

    2010-03-01

    We identify recent models for programmes aiming to increase effective family support for chronic illness management and self-care among adult patients without significant physical or cognitive disabilities. We then summarize evidence regarding the efficacy for each model identified. Structured review of studies published in medical and psychology databases from 1990 to the present, reference review, general Web searches and conversations with family intervention experts. Review was limited to studies on conditions that require ongoing self-management, such as diabetes, chronic heart disease and rheumatologic disease. Programmes with three separate foci were identified: (1) Programmes that guide family members in setting goals for supporting patient self-care behaviours have led to improved implementation of family support roles, but have mixed success improving patient outcomes. (2) Programmes that train family in supportive communication techniques, such as prompting patient coping techniques or use of autonomy supportive statements, have successfully improved patient symptom management and health behaviours. (3) Programmes that give families tools and infrastructure to assist in monitoring clinical symptoms and medications are being conducted, with no evidence to date on their impact on patient outcomes. The next generation of programmes to improve family support for chronic disease management incorporate a variety of strategies. Future research can define optimal clinical situations for family support programmes, the most effective combinations of support strategies, and how best to integrate family support programmes into comprehensive models of chronic disease care.

  12. Age-Specific Incidence Rates for Dementia and Alzheimer Disease in NIA-LOAD/NCRAD and EFIGA Families

    Science.gov (United States)

    Vardarajan, Badri N.; Faber, Kelley M.; Bird, Thomas D.; Bennett, David A.; Rosenberg, Roger; Boeve, Bradley F.; Graff-Radford, Neill R.; Goate, Alison M.; Farlow, Martin; Sweet, Robert A.; Lantigua, Rafael; Medrano, Martin Z.; Ottman, Ruth; Schaid, Daniel J.; Foroud, Tatiana M.; Mayeux, Richard

    2014-01-01

    IMPORTANCE Late-onset Alzheimer disease (LOAD), defined as onset of symptoms after age 65 years, is the most common form of dementia. Few reports investigate incidence rates in large family-based studies in which the participants were selected for family history of LOAD. OBJECTIVE To determine the incidence rates of dementia and LOAD in unaffected members in the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) family studies. DESIGN, SETTING, AND PARTICIPANTS Families with 2 or more affected siblings who had a clinical or pathological diagnosis of LOAD were recruited as a part of the NIA-LOAD/NCRAD Family Study. A cohort of Caribbean Hispanics with familial LOAD was recruited in a different study at the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain in New York and from clinics in the Dominican Republic as part of the EFIGA study. MAIN OUTCOMES AND MEASURES Age-specific incidence rates of LOAD were estimated in the unaffected family members in the NIA-LOAD/NCRAD and EFIGA data sets. We restricted analyses to families with follow-up and complete phenotype information, including 396 NIA-LOAD/NCRAD and 242 EFIGA families. Among the 943 at-risk family members in the NIA-LOAD/NCRAD families, 126 (13.4%) developed dementia, of whom 109 (86.5%) met criteria for LOAD. Among 683 at-risk family members in the EFIGA families, 174 (25.5%) developed dementia during the study period, of whom 145 (83.3%) had LOAD. RESULTS The annual incidence rates of dementia and LOAD in the NIA-LOAD/NCRAD families per person-year were 0.03 and 0.03, respectively, in participants aged 65 to 74 years; 0.07 and 0.06, respectively, in those aged 75 to 84 years; and 0.08 and 0.07, respectively, in those 85 years or older. Incidence rates in the EFIGA families were slightly higher, at 0.03 and 0.02, 0.06 and 0.05, 0

  13. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS: case report and literature review of the disease clinical, genetic and radiological features

    Directory of Open Access Journals (Sweden)

    Zicari Anna

    2012-06-01

    Full Text Available Abstract Osteopathia striata with cranial sclerosis (OS-CS or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, sensory defects, internal organs anomalies, growth and mental retardation, depending on the severity of the disease. WTX gene (Xq11 has been recently identified as the disease causing gene. Aim of this article is to present the case of a 6 year old girl initially evaluated for bilateral hearing loss. Patient’s head CT scan pointed out sclerosis of skull base and mastoid cells, and abnormal middle-ear ossification. Clinical examination of the patient and her mother were suspicious for OS-CS. The diagnosis was confirmed by X-rays examination showing typical longitudinal striation. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X WTX gene mutation. We also provide a systematic review of currently available knowledge about clinical, radiologic and genetic features typical of the OS-CS.

  14. Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

    LENUS (Irish Health Repository)

    Horan, Paul G

    2006-01-01

    BACKGROUND: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Delta7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. METHODS: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Delta7aa region of the MEF2A gene was investigated based on amplicon size. RESULTS: The Delta7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. CONCLUSION: The Delta7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group.

  15. Canine Degenerative Valve Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Carmenza Janneth Benavides Melo

    2014-07-01

    Full Text Available Degenerative valvular disease or endocardiosis is the most common cardiovascular pathology in dogs. It is characterized by regurgitation of blood into the atria with decreased cardiac output, leading to volume overload with eccentric hypertrophy and congestive heart failure. This report describes the clinical and autopsy findings of a dog, suggestive of valvular endocardiosis. The patient was admitted to the outpatient Veterinary Clinic “Carlos Martínez Hoyos” at the University of Nariño (Pasto, Colombia. His owner said the dog was sick for two months, with signs of respiratory disease, weight loss, and decay. Clinical examination showed very pale mucous membranes, inspiratory dyspnea, rale, split S2, grade 4 mid-systolic murmur of regurgitation, and abdominal dilatation with sign of positive shock wave. Necropsy evidenced plenty of translucent watery material in the abdominal, chest and pericardium cavity, severely enlarged and rounded heart with thickened atrioventricular valves, moderate reduction in liver size and signs of lobulation, severely diminished and pale kidneys with irregular surface showing the presence of multiple cystic areas in corticomedullary region. Samples were taken from these tissues and fixed in 10% buffered formalin to be processed for histopathological analysis at the Laboratory of Pathology at the University of Nariño, using hematoxylin and eosin stain. This way, degenerative valvular disease was diagnosed.

  16. [Tuberculous rheumatism "Poncet's disease". Case report].

    Science.gov (United States)

    Lugo-Zamudio, Gustavo Esteban; Barbosa-Cobos, Rosa Elda; González-Ramírez, Laura Virginia; Delgado-Ochoa, Dolores

    2016-01-01

    Deaths due to tuberculosis have reached 2.5 million cases per year worldwide. Poncet's disease is an infrequent form of tuberculosis characterised by a clinical picture of polyarthritis. A 24-year-old male presented with morning stiffness, arthralgias, bilateral symmetric arthritis of the proximal interphalangeal joints, wrists, knees, ankles, and shoulders, and adenomegalies at the cervical, submandibular, left supraclavicular, axillary and inguinal levels, without fever. Laboratory results were as follows: ESR 44mm/h, C-reactive protein 4.35, normal levels of complement C3 and C4, negative rheumatoid factor and anticyclic citrullinated peptide antibodies, positive antinuclear antibodies with fine speckled pattern (1:320) and cytoplasm (1:160) pattern and negative anti-Smith, -double-stranded DNA, Sjogren's syndrome-antigen A and Sjogren's syndrome-antigen B. Histological report of cervical node tissue revealed granulomatous lesions compatible with tuberculosis. Rheumatoid arthritis and systemic lupus erythematosus were ruled out. Anti-tuberculosis agents were initiated that resolved the clinical picture. Diagnosis of Poncet's disease was confirmed. The differential diagnosis between tuberculosis and autoimmune inflammatory joint diseases is a clinical challenge. Copyright © 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. All rights reserved.

  17. Deadly outbreak of iron storage disease (ISD) in Italian birds of the family Turdidae.

    Science.gov (United States)

    Pavone, Silvia; Salamida, Sonia; Pecorelli, Ivan; Rossi, Elisabetta; Manuali, Elisabetta

    2014-09-01

    A widespread deadly outbreak occurred in captive birds belonging to the family Turdidae in Italy. The present study was performed on 46 dead birds coming from 3 small decoy-bird breeders in central Italy. Only Turdus pilaris, Turdus iliacus, Turdus philomelos and Turdus merula were affected. No other species of bird held by these breeders died. A change of diet before the hunting season was reported from all breeders. Full necropsy of the animals and histological investigations of representative tissue samples were performed. Microscopical examination showed marked iron deposits in liver samples. Bacteriological investigations and molecular analysis to exclude bacterial and viral diseases were carried out. Contamination of food pellet samples by mycotoxins and analysis to detect heavy metal contaminants in food pellet samples were considered. An interesting result was the high iron content found in food pellets. It was higher than that considered suitable for birds, especially for species susceptible to development iron storage disease (ISD). Taken together, the results suggested an outbreak of ISD caused by the high iron content of food given to the birds before the hunting season. The high mortality recorded only in species belonging to the family Turdidae suggests a genetic predisposition in the affected birds.

  18. Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

    Directory of Open Access Journals (Sweden)

    Mokni Mourad

    2010-04-01

    Full Text Available Abstract Introduction Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B gene (ARS, MIM: 606119 on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438 may result in both autosomal dominant and autosomal recessive congenital cataracts. Case presentation A Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1/20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8/10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms (-55G>C and -60G>C. The splice mutation (c.1327+4A-G within intron 12 of the HSF4 gene, which has been previously described in Tunisian families with congenital cataract, was not found in the two probands within this family. Conclusion To the best of our knowledge, such original clinical association has not been reported previously. The association of these two autosomal recessive diseases might have occurred in this family due to a high degree of inbreeding. The C99Y mutation may be specific to the Tunisian population as it has been exclusively reported so far in only three

  19. Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.

    Science.gov (United States)

    Potter, Huntington; Granic, Antoneta; Caneus, Julbert

    2016-01-01

    Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). Trisomy 21 and other forms of aneuploidy also arise among neurons and peripheral cells in both sporadic and familial AD and in mouse and cell models thereof, reinforcing the conclusion that AD and DS are two sides of the same coin. The demonstration that 90% of the neurodegeneration in AD can be attributed to the selective loss of aneuploid neurons generated over the course of the disease indicates that aneuploidy is an essential feature of the pathogenic pathway leading to the depletion of neuronal cell populations. Trisomy 21 mosaicism also occurs in neurons and other cells from patients with Niemann-Pick C1 disease and from patients with familial or sporadic frontotemporal lobar degeneration (FTLD), as well as in their corresponding mouse and cell models. Biochemical studies have shown that Aβ induces mitotic spindle defects, chromosome mis-segregation, and aneuploidy in cultured cells by inhibiting specific microtubule motors required for mitosis. These data indicate that neuronal trisomy 21 and other types of aneuploidy characterize and likely contribute to multiple neurodegenerative diseases and are a valid target for therapeutic intervention. For example, reducing extracellular calcium or treating cells with lithium chloride (LiCl) blocks the induction of trisomy 21 by Aβ. The latter finding is relevant in light of recent reports of a lowered risk of dementia in bipolar patients treated with LiCl and in the stabilization of cognition in AD patients treated with LiCl.

  20. Familial Alzheimer's disease: genetic analysis related to disease heterogeneity, Down syndrome and human brain evolution.

    Science.gov (United States)

    Schapiro, M B; Rapoport, S I

    1989-01-01

    Etiologically heterogeneous subgroups of patients with Alzheimer's disease (AD) exist and need to be distinguished so as to better identify genetic causes of familial cases. Furthermore, the presence of AD neuropathology in Down syndrome (trisomy 21) subjects older than 35 years suggests that AD in some cases is caused by dysregulation of expression of genes on chromosome 21. Cerebral metabolic abnormalities in life, and the distribution of AD neuropathology in the post-mortem brain, indicate that AD involves the association neocortices and subcortical regions with which they evolved during evolution of the human brain. Accordingly, understanding the molecular basis of this evolution should elucidate the genetic basis of AD, whereas knowing the genetics of AD should be informative about the genomic changes which promoted brain evolution.

  1. Prenatal Diagnosis in a Family of TNFRSF11A (RANK Gene Mutation Detection: A Case Report

    Directory of Open Access Journals (Sweden)

    Mutlu Karkucak

    2014-08-01

    Full Text Available Autosomal recessive osteoporosis (ARO is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by TNFRSF11A gene are important proteins for osteoclast maturation and it is indicated that mutation on these genes plays an important role for ARO development. It is reported in this article that c.508 A→G homozygote mutation (pArg170Gly is observed in TNFRSF11A gene of 2 children of consanguineous couple. Mutation analysis performed on CVS material during the next pregnancy revealed heterozygous mutation in the fetus. The pregnancy was continued to term and a healthy boy was delivered. Prenatal mutation analysis is important for diseases with known mutations to relieve parental anxiety and provide genetic counselling for the family.

  2. THE USE OF THE PARADOX TECHNIQUE IN FAMILY THERAPY WITH IRANIAN FAMILIES: REPORT OF TWO CAESES

    Directory of Open Access Journals (Sweden)

    HOSSEIN KAVIANI

    2016-05-01

    Full Text Available Aim: This study assessed the effect of the paradox in family therapy. The paradox, as a therapeutic tool, has been developed by a number of therapists, especially Mara Selvini Palazzoli. Cases: Two clients (both female were chosen for this study. These two girls were the symptomatic members of their families. They were both depressed and on medication for more than two years. Management and outcome: The therapist benefited the Milan Systems Approach to family. The families participated in 16 sessions of therapy. Then, they were followed up for two years. All family members filled in FAD and BDI questionnaires before the therapy, in the tenth session, after therapy and three months later. It was found that the paradox in appropriate cases had satisfactory outcome. This method reduced the symptomatic behavior, and affected family system as a whole. Family system became more workable and functional. Case 1 after two years was well functioning and got married. Case 2, after therapy, did not need to take medication, finished her high school and entered university. Conclusion: The paradox is a powerful tool for family therapy. It is a creative and critical solution for long-term illness. But Caution should be taken when using this technique in therapy. It should be the last option in the course of family therapy, after other techniques failed to be effective.

  3. Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study

    Science.gov (United States)

    Cabrera, Laura Y; Beattie, B Lynn; Dwosh, Emily; Illes, Judy

    2015-01-01

    Objectives: In 2007, a novel pathogenic genetic mutation associated with early onset familial Alzheimer disease was identified in a large First Nation family living in communities across British Columbia, Canada. Building on a community-based participatory study with members of the Nation, we sought to explore the impact and interplay of medicalization with the Nation’s knowledge and approaches to wellness in relation to early onset familial Alzheimer disease. Methods: We performed a secondary content analysis of focus group discussions and interviews with 48 members of the Nation between 2012 and 2013. The analysis focused specifically on geneticization, medicalization, and traditional knowledge of early onset familial Alzheimer disease, as these themes were prominent in the primary analysis. Results: We found that while biomedical explanations of disease permeate the knowledge and understanding of early onset familial Alzheimer disease, traditional concepts about wellness are upheld simultaneously. Conclusion: The analysis brings the theoretical framework of “two-eyed seeing” to the case of early onset familial Alzheimer disease for which the contributions of different ways of knowing are embraced, and in which traditional and western ways complement each other on the path of maintaining wellness in the face of progressive neurologic disease. PMID:27092264

  4. A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

    Directory of Open Access Journals (Sweden)

    Marco Ceccanti

    2016-11-01

    Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

  5. Family-based case-control study of cigarette smoking and Parkinson disease.

    Science.gov (United States)

    Scott, W K; Zhang, F; Stajich, J M; Scott, B L; Stacy, M A; Vance, J M

    2005-02-08

    To determine whether people with Parkinson disease (PD) are less likely to report a history of cigarette smoking than their unaffected siblings. Previous studies reported that individuals with PD are half as likely to have smoked as those unaffected by PD. Other studies reported that smoking modified the risk of PD due to polymorphisms in the MAO-B and nNOS genes. Thus, genetic studies of PD should consider confounding or interaction with smoking history as well. The authors have collected detailed smoking histories on a family-based case-control sample ascertained for genetic studies of PD. In a matched case-control study of 140 sibships, individuals with PD (n = 143) were compared to sibling controls (n = 168). Cigarette smoking history was collected by a structured telephone interview. Conditional logistic regression was used to examine the relationship between smoking and PD while controlling for confounding by age and sex. Ever smoking, current smoking, and increasing duration (in years), dose (in packs/day), and intensity (in pack-years) of smoking were significantly inversely associated with PD (p Parkinson disease are significantly less likely to have smoked regularly than their unaffected siblings. This association was detected even though discordant sibling pairs are more likely to be overmatched for environmental exposures than unmatched case and control groups.

  6. Researches Regarding the Testing of Bee Family Resistance to Bee Brood Diseases

    OpenAIRE

    Silvia Pătruică; Eliza Căuia; Eliza Simiz; Adrian Siceanu; Marian Bura; Ionut Bănăţean Dunea; Marioara Nicula; Cristian Fiştea

    2010-01-01

    In this work, we tested the resistance of bee families to young bee diseases. The researches were carried out in two apiaries from Timişoara and Comoraste, Caras-Severin County. The biological material was consisted of 10 bee families belonging to the species Apis mellifica carpatica, distributed in two experimental variants of 5 families, with almost equal power. During this experiment, we assessed the degree of cleaning and removing of the young bees that died of freezing. Successive to the...

  7. Selection bias in family reports on end of life with dementia in nursing homes

    OpenAIRE

    Steen, van, M.; Deliens, L.; Ribbe, M.W.; Onwuteaka-Philipsen, B. D.

    2012-01-01

    Background: Selective participation in retrospective studies of families recruited after the patient's death may threaten generalizability of reports on end-of-life experiences. Objectives: To assess possible selection bias in retrospective study of dementia at the end of life using family reports. Methods: Two physician teams covering six nursing home facilities in the Netherlands reported on 117 of 119 consecutive decedents within two weeks after death unaware of after-death family ...

  8. Clinical Decision Support for Vascular Disease in Community Family Practice

    Science.gov (United States)

    Keshavjee, K; Holbrook, AM; Lau, E; Esporlas-Jewer, I; Troyan, S

    2006-01-01

    The COMPETE III Vascular Disease Tracker (C3VT) is a personalized, Web-based, clinical decision support tool that provides patients and physicians access to a patient’s 16 individual vascular risk markers, specific advice for each marker and links to best practices in vascular disease management. It utilizes the chronic care model1 so that physicians can better manage patients with chronic diseases. Over 1100 patients have been enrolled into the COMPETE III study to date.

  9. Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2012-04-01

    Full Text Available Abstract Introduction Familial glucocorticoid deficiency, or hereditary unresponsiveness to adrenocorticotropic hormone, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Here, we report the case of an 18-month-old Egyptian boy with familial glucocorticoid deficiency. Case presentation An 18-month-old Egyptian boy was referred to our institution for evaluation of generalized hyperpigmentation of the body associated with recurrent convulsions; one of his siblings, who had died at the age of nine months, also had generalized hyperpigmentation of the body. The initial clinical examination revealed generalized symmetrical deep hyperpigmentation of the body as well as hypotonia, normal blood pressure and normal male genitalia. He had low blood glucose and cortisol levels, normal aldosterone and high adrenocorticotropic hormone levels. Based on the above mentioned data, a provisional diagnosis of familial glucocorticoid deficiency was made, which was confirmed by a molecular genetics study. Oral hydrocortisone treatment at a dose of 10 mg/m2/day was started. The child was followed up after two months of treatment; the hyperpigmentation has lessened in comparison with his initial presentation and his blood sugar and cortisol levels were normalized. Conclusion Familial glucocorticoid deficiency is a rare, treatable disease that can be easily missed due to nonspecific presentations. The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

  10. GVHD (Graft-Versus-Host Disease): A Guide for Patients and Families After Stem Cell Transplant

    Science.gov (United States)

    ... Disease): A guide for patients and families after stem cell transplant The immune system is the body's tool ... and attacking them. When you receive a donor's stem cells (the “graft”), the stem cells recreate the donor's ...

  11. Lyme Disease: Knowledge and Practices of Family Practitioners in Southern Quebec

    Directory of Open Access Journals (Sweden)

    Cécile Ferrouillet

    2015-01-01

    Full Text Available BACKGROUND: Public health authorities in Quebec have responded to the progressive emergence of Lyme disease (LD with surveillance activities and education for family physicians (FPs who are key actors in both vigilance and case management.

  12. Airway wall thickening and emphysema show independent familial aggregation in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Patel, Bipen D; Coxson, Harvey O; Pillai, Sreekumar G

    2008-01-01

    RATIONALE: It is unclear whether airway wall thickening and emphysema make independent contributions to airflow limitation in chronic obstructive pulmonary disease (COPD) and whether these phenotypes cluster within families. OBJECTIVES: To determine whether airway wall thickening and emphysema (1...

  13. Online information as support to the families of children and adolescents with chronic disease.

    Science.gov (United States)

    Mazza, Verônica de Azevedo; Lima, Vanessa Ferreira de; Carvalho, Ana Karoline da Silva; Weissheimer, Gisele; Soares, Larissa Gramazio

    2017-04-20

    To describe the use of online information as support to families of children and adolescents with chronic disease. This is an integrative review conducted in August 2015, with an online search in the following databases: PubMed, Biblioteca Virtual em Saúde, Cumulative Index to Nursing & Allied Health Literature, and Science Direct. Twelve studies were selected from the 293 studies found in the databases. After analysis, the following two categories emerged: Potentialities of the use of online information by families of children and adolescents with chronic disease, and Weaknesses of the use of online information by families of children and adolescents with chronic disease. The internet offers a wide range of information that helps families manage the care of children and adolescents with chronic diseases, but it also has characteristics that need to be analysed.

  14. Experiences of Supporting People with Down Syndrome and Alzheimer's Disease in Aged Care and Family Environments

    Science.gov (United States)

    Carling-Jenkins, Rachel; Torr, Jennifer; Iacono, Teresa; Bigby, Christine

    2012-01-01

    Background: Research addressing the experiences of families of adults with Down syndrome and Alzheimer's disease in seeking diagnosis and gaining support is limited. The aim of this study was to gain a greater understanding of these processes by exploring the experiences of families and carers in supporting people with Down syndrome and…

  15. Family Stigma and Caregiver Burden in Alzheimer's Disease

    Science.gov (United States)

    Werner, Perla; Mittelman, Mary S.; Goldstein, Dovrat; Heinik, Jeremia

    2012-01-01

    Purpose: The stigma experienced by the family members of an individual with a stigmatized illness is defined by 3 dimensions: caregiver stigma, lay public stigma, and structural stigma. Research in the area of mental illness suggests that caregivers' perception of stigma is associated with increased burden. However, the effect of stigma on…

  16. Family Stigma and Caregiver Burden in Alzheimer's Disease

    Science.gov (United States)

    Werner, Perla; Mittelman, Mary S.; Goldstein, Dovrat; Heinik, Jeremia

    2012-01-01

    Purpose: The stigma experienced by the family members of an individual with a stigmatized illness is defined by 3 dimensions: caregiver stigma, lay public stigma, and structural stigma. Research in the area of mental illness suggests that caregivers' perception of stigma is associated with increased burden. However, the effect of stigma on…

  17. Towards Genetic Prediction of Coronary Heart Disease in Familial Hypercholesterolemia

    NARCIS (Netherlands)

    J.B. van der Net (Jeroen)

    2009-01-01

    textabstractFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism caused by mutations in the gene coding for the low-density lipoprotein (LDL) receptor. The LDL receptor is a transmembrane protein that regulates plasma cholesterol levels by uptake of LDL particles

  18. [Focal epithelial hyperplasia (Heck's disease) in a Turkish family].

    Science.gov (United States)

    Weidner, F

    1996-12-01

    A 31-year-old Turkish patient and some family members suffered from multiple hyperplastic oral mucosal papules. Intralesional papilloma virus was not found but the patient had elevated levels of CD8 lymphocytes in his peripheral blood. We diagnosed focal epithelial hyperplasia of Heck.

  19. Toward an integrated science of research on families: workshop report

    National Research Council Canada - National Science Library

    Olson, Steve

    2011-01-01

    .... The purpose of The Science of Research on Families: A Workshop, held in Washington, DC, on July 13-14, 2010, was to examine the broad array of methodologies used to understand the impact of families on children's health and development...

  20. [Chronic disease, the chronic patient and his family. Psychosocial impact of diabetes mellitus].

    Science.gov (United States)

    Rebelo, L

    1992-07-01

    Concerning a revision about the mutual influence between the diabetes, the diabetic and his family, the author reviews the literature about the psychosocial area of the Family Physician content's work. It is also confirmed the high prevalency of the chronic disease and the importance of the family ecosystem, not only as support but also as problem to the bearing person of such type of disease. Studies of chronic disease indicate that family dysfunction is associated with poor health outcomes. The areas which more and better have been studied in this scope are reviewed. Thus, having as backdrop the diabetes management, the family's diabetic influence in general is reviewed, as well as the parental attitudes, the family organization and the family life events. Finally, the health care team role is reviewed and particulary the role of the family physician in the management of this type of patients. It is pointed out, as example of the Family Medicine specific contribution, the improving cooperation with medical treatment from the diabetic.

  1. The phylogeny and evolutionary history of the Lesion Simulating Disease (LSD) gene family in Viridiplantae.

    Science.gov (United States)

    Cabreira, Caroline; Cagliari, Alexandro; Bücker-Neto, Lauro; Margis-Pinheiro, Márcia; de Freitas, Loreta B; Bodanese-Zanettini, Maria Helena

    2015-12-01

    The Lesion Simulating Disease (LSD) genes encode a family of zinc finger proteins that play a role in programmed cell death (PCD) and other biological processes, such as plant growth and photosynthesis. In the present study, we report the reconstruction of the evolutionary history of the LSD gene family in Viridiplantae. Phylogenetic analysis revealed that the monocot and eudicot genes were distributed along the phylogeny, indicating that the expansion of the family occurred prior to the diversification between these clades. Sequences encoding proteins that present one, two, or three LSD domains formed separate groups. The secondary structure of these different LSD proteins presented a similar composition, with the β-sheets being their main component. The evolution by gene duplication was identified only to the genes that contain three LSD domains, which generated proteins with equal structure. Moreover, genes encoding proteins with one or two LSD domains evolved as single-copy genes and did not result from loss or gain in LSD domains. These results were corroborated by synteny analysis among regions containing paralogous/orthologous genes in Glycine max and Populus trichocarpa. The Ka/Ks ratio between paralogous/orthologous genes revealed that a subfunctionalization process possibly could be occurring with the LSD genes, explaining the involvement of LSD members in different biological processes, in addition to the negative regulation of PCD. This study presents important novelty in the evolutionary history of the LSD family and provides a basis for future research on individual LSD genes and their involvement in important pathway networks in plants.

  2. Skin diseases in family medicine: prevalence and health care use.

    NARCIS (Netherlands)

    Verhoeven, E.W.M.; Kraaimaat, F.W.; Weel, C. van; Kerkhof, P.C.M. van de; Duller, P.; Valk, P.G.M. van der; Hoogen, H.J.M. van den; Bor, J.H.J.; Schers, H.J.; Evers, A.W.M.

    2008-01-01

    PURPOSE: Ongoing care for patients with skin diseases can be optimized by understanding the incidence and population prevalence of various skin diseases and the patient-related factors related to the use of primary, specialty, and alternative health care for these conditions. We examined the recent

  3. The Distinction of 'Psychosomatogenic Family Types' Based on Parents' Self Reported Questionnaire Information : A Cluster Analysis

    NARCIS (Netherlands)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    2014-01-01

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of 12-y

  4. Familial congenital bilateral agenesis of the acromion : a radiologically illustrated case report

    NARCIS (Netherlands)

    Hermans, JJ; Mooyaart, EL; Hendriks, JGE; Diercks, RL

    1999-01-01

    Familial congenital bilateral acromion absence was found in four members of one family. Only one of them presented with gradually increasing pain in his left shoulder, resembling a shoulder impingement syndrome. The other members did not have any symptoms. This is the first report of familial occurr

  5. The Distinction of 'Psychosomatogenic Family Types' Based on Parents' Self Reported Questionnaire Information : A Cluster Analysis

    NARCIS (Netherlands)

    Rousseau, Sofie; Grietens, Hans; Vanderfaeillie, Johan; Ceulemans, Eva; Hoppenbrouwers, Karel; Desoete, Annemie; Van Leeuwen, Karla

    The theory of 'psychosomatogenic family types' is often used in treatment of somatizing adolescents. This study investigated the validity of distinguishing 'psychosomatogenic family types' based on parents' self-reported family features. The study included a Flemish general population sample of

  6. Creating Opportunity for Families: A Two-Generation Approach. KIDS COUNT Policy Report

    Science.gov (United States)

    Gencer, Arin

    2014-01-01

    Nearly half of the nation's families with young children struggle to make ends meet. A new KIDS COUNT policy report makes the case for creating opportunity for families by addressing the needs of parents and their children simultaneously. "Creating Opportunity for Families: A Two-Generation Approach" describes a new approach to reducing…

  7. Evaluating the contribution of genetics and familial shared environment to common disease using the UK Biobank.

    Science.gov (United States)

    Muñoz, María; Pong-Wong, Ricardo; Canela-Xandri, Oriol; Rawlik, Konrad; Haley, Chris S; Tenesa, Albert

    2016-09-01

    Genome-wide association studies have detected many loci underlying susceptibility to disease, but most of the genetic factors that contribute to disease susceptibility remain unknown. Here we provide evidence that part of the 'missing heritability' can be explained by an overestimation of heritability. We estimated the heritability of 12 complex human diseases using family history of disease in 1,555,906 individuals of white ancestry from the UK Biobank. Estimates using simple family-based statistical models were inflated on average by ∼47% when compared with those from structural equation modeling (SEM), which specifically accounted for shared familial environmental factors. In addition, heritabilities estimated using SNP data explained an average of 44.2% of the simple family-based estimates across diseases and an average of 57.3% of the SEM-estimated heritabilities, accounting for almost all of the SEM heritability for hypertension. Our results show that both genetics and familial environment make substantial contributions to familial clustering of disease.

  8. Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013.

    Science.gov (United States)

    Mundal, Liv; Igland, Jannicke; Ose, Leiv; Holven, Kirsten B; Veierød, Marit B; Leren, Trond P; Retterstøl, Kjetil

    2017-01-01

    Background Patients with familial hypercholesterolemia have increased cardiovascular disease mortality but the magnitude of the increased risk is uncertain. The primary aim of this study was to investigate all causes of death and place and manner of deaths in a large sample of genotyped familial hypercholesterolemia patients. Design, methods and results In this registry study data on 5518 patients with genotyped familial hypercholesterolemia were linked to the Norwegian Cause of Death Registry during 1992-2013. Standardized mortality ratios and 95% confidence intervals (CIs) were estimated. There were in total 189 deaths. Cardiovascular disease was the most common cause of death (42.3%). Mean age at cardiovascular disease death was 64.5 years (range 33-91). Cardiovascular disease mortality including all cardiovascular disease deaths mentioning any place on the death certificate was significantly higher in familial hypercholesterolemia patients compared to the general Norwegian population under 70 years of age. Standardized mortality ratio (95% CI) was highest in the 20-39 years age group; 4.12 (1.85-9.18) decreasing to 0.77 (0.50-1.19) for those over 80 years. For total cardiovascular disease deaths occurring out of hospital, standardized mortality ratio was 12.35 (5.14-29.70) for those aged 20-39 years. Conclusion Familial hypercholesterolemia patients under 70 years of age have significantly higher cardiovascular disease mortality compared to the general Norwegian population. For those aged 20-39 years the risk of cardiovascular disease deaths occurring out of hospital was increased 12-fold. In spite of genotyped familial hypercholesterolemia and premature cardiovascular disease deaths, the majority of all death certificates did not include familial hypercholesterolemia among any of the contributing causes of death.

  9. Development of Aortic Valve Disease in Familial Hypercholesterolemic Swine: Implications for Elucidating Disease Etiology.

    Science.gov (United States)

    Porras, Ana M; Shanmuganayagam, Dhanansayan; Meudt, Jennifer J; Krueger, Christian G; Hacker, Timothy A; Rahko, Peter S; Reed, Jess D; Masters, Kristyn S

    2015-10-27

    Familial hypercholesterolemia (FH) is a prevalent hereditary disease associated with increased atherosclerosis and calcific aortic valve disease (CAVD). However, in both FH and non-FH individuals, the role of hypercholesterolemia in the development of CAVD is poorly understood. This study used Rapacz FH (RFH) swine, an established model of human FH, to investigate the role of hypercholesterolemia alone in the initiation and progression of CAVD. The valves of RFH swine have not previously been examined. Aortic valve leaflets were isolated from wild-type (0.25- and 1-year-old) and RFH (0.25-, 1-, 2-, and 3-year-old) swine. Adult RFH animals exhibited numerous hallmarks of early CAVD. Significant leaflet thickening was found in adult RFH swine, accompanied by extensive extracellular matrix remodeling, including proteoglycan enrichment, collagen disorganization, and elastin fragmentation. Increased lipid oxidation and infiltration of macrophages were also evident in adult RFH swine. Intracardiac echocardiography revealed mild aortic valve sclerosis in some of the adult RFH animals, but unimpaired valve function. Microarray analysis of valves from adult versus juvenile RFH animals revealed significant upregulation of inflammation-related genes, as well as several commonalities with atherosclerosis and overlap with human CAVD. Adult RFH swine exhibited several hallmarks of early human CAVD, suggesting potential for these animals to help elucidate CAVD etiology in both FH and non-FH individuals. The development of advanced atherosclerotic lesions, but only early-stage CAVD, in RFH swine supports the hypothesis of an initial shared disease process, with additional stimulation necessary for further progression of CAVD. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  10. Relational Issues Within Couples Coping With Parkinson's Disease: Implications and Ideas for Family-Focused Care.

    Science.gov (United States)

    Martin, Summer C

    2016-05-01

    The ways in which Parkinson's disease (PD) impacts, and is experienced by, the couple (i.e., the individual with PD and his or her spouse or other romantic partner) have not been fully elucidated. Such research is strongly warranted because when one member of a couple is chronically ill, it can cause major distress for not only the patient but also for his or her partner and their relationship. Therefore, the goal of this study was to examine how PD affects a couple's relationship. Data from 44 individual, in-depth interviews (with 21 persons with PD and 23 partners) revealed several challenges that PD commonly invokes in the patient-partner relationship, though most participants reported that PD had not decreased their overall relational closeness. The findings have significant practical implications for family-focused care.

  11. Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

    Science.gov (United States)

    Gutiérrez-Amavizca, B E; Orozco-Castellanos, R; R Padilla-Gutiérrez, J; Valle, Y; Figuera, L E

    2014-08-28

    Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males.

  12. Coexistence of Behçet’s disease with ankylosing spondylitis and familial Mediterranean fever: a rare occurrence

    Directory of Open Access Journals (Sweden)

    Makram Frigui

    2011-05-01

    Full Text Available Behçet's disease (BD and familial Mediterranean fever (FMF, which are two separate diseases sharing some clinical features, may also coexist in the same patient. Further investigations are needed to understand whether this coexistence is due to either chance or geographical distribution patterns of these diseases or to common etiopathogenetic characteristics. Spondylarthritis as part of the clinical picture in these two diseases has been questioned and probably it is not a prominent characteristic of any of them. We report a 35- year-old Tunisian man who had an association of BD, FMF and Human Leukocyte Antigen (HLA B27 positive ankylosing spondylitis. Although that spondylarthritis is an infrequent joint involvement of FMF and BD, it must be looked for in case of association of these diseases.

  13. Disease evolution and outcomes in familial AML with germline CEBPA mutations

    DEFF Research Database (Denmark)

    Tawana, Kiran; Wang, Jun; Renneville, Aline

    2015-01-01

    therapies were observed, with prolonged median survival after relapse (8 years) and long-term overall survival (10-year overall survival, 67%). Our data reveal that familial CEBPA-mutated AML exhibits a unique model of disease progression, associated with favorable long-term outcomes.......In-depth molecular investigation of familial leukemia has been limited by the rarity of recognized cases. This study examines the genetic events initiating leukemia and details the clinical progression of disease across multiple families harboring germ-line CEBPA mutations. Clinical data were...

  14. Generalized Vitiligo Associated Autoimmune Diseases in Japanese Patients Their Families

    Directory of Open Access Journals (Sweden)

    Tomohiko Narita

    2011-01-01

    Conclusions: Among Japanese vitiligo patients, there is a subgroup with strong evidence of genetically determined susceptibility to not only vitiligo, but also to autoimmune thyroid disease and other autoimmune disorders.

  15. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

    National Research Council Canada - National Science Library

    Simon, David K; Pankratz, Nathan; Kissell, Diane K; Pauciulo, Michael W; Halter, Cheryl A; Rudolph, Alice; Pfeiffer, Ronald F; Nichols, William C; Foroud, Tatiana

    2010-01-01

    .... We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168...

  16. The eye in systemic disease | Lenake | South African Family Practice

    African Journals Online (AJOL)

    Abstract. The eye is a unique organ which is often involved in systemic disease. ... virus/acquired immune deficiency syndrome, syphilis, some dermatological conditions and the ocular side-effects of certain drugs, are discussed in this article.

  17. Familial aggregation in inflammatory bowel disease: Is it genes or environment?

    Institute of Scientific and Technical Information of China (English)

    Tiago Nunes; Gionata Fiorino; Silvio Danese; Miquel Sans

    2011-01-01

    Inflammatory bowel disease (IBD) develops in genetically susceptible individuals due to the influence of environmental factors, leading to an abnormal recognition of microbiota antigens by the innate immune system which triggers an exaggerated immune response and subsequent bowel tissue damage. IBD has been more frequently found in families, an observation that could be due to either genetic, environmental or both types of factors present in these families. In addition to expanding our knowledge on IBD pathogenesis, defining the specific contribution to familial IBD of each one of these factors might have also clinical usefulness. We review the available evidence on familial IBD pathogenesis.

  18. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

    Directory of Open Access Journals (Sweden)

    Ragesh Panikkath MD

    2016-07-01

    Full Text Available A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2. Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists.

  19. An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

    Science.gov (United States)

    Panikkath, Ragesh; Panikkath, Deepa; Sanchez-Iglesias, S.; Araujo-Vilar, D; Lado-Abeal, Joaquin

    2016-01-01

    A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at exon 8 (c.1444C>T) causing amino acid change, p.R482W. She later developed severe coronary artery disease requiring multiple percutaneous coronary interventions and coronary artery bypass surgery. She was later diagnosed with diabetes, primary hyperparathyroidism, and euthyroid multinodular goiter. She had sinus nodal and atrioventricular nodal disease and had an implantable cardioverter defibrillator implantation due to persistent left ventricular dysfunction. The device eroded through the skin few months after implantation and needed a re-implant on the contralateral side. She had atrial flutter requiring ablation. This patient with FPLD2 had most of the reported cardiac complications of FPLD2. This case is presented to improve the awareness of the presentation of this disease among cardiologists and internists. PMID:27504462

  20. Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.

    Science.gov (United States)

    Muranen, Taru A; Mavaddat, Nasim; Khan, Sofia; Fagerholm, Rainer; Pelttari, Liisa; Lee, Andrew; Aittomäki, Kristiina; Blomqvist, Carl; Easton, Douglas F; Nevanlinna, Heli

    2016-08-01

    The risk of developing breast cancer is increased in women with family history of breast cancer and particularly in families with multiple cases of breast or ovarian cancer. Nevertheless, many women with a positive family history never develop the disease. Polygenic risk scores (PRSs) based on the risk effects of multiple common genetic variants have been proposed for individual risk assessment on a population level. We investigate the applicability of the PRS for risk prediction within breast cancer families. We studied the association between breast cancer risk and a PRS based on 75 common genetic variants in 52 Finnish breast cancer families including 427 genotyped women and pedigree information on ~4000 additional individuals by comparing the affected to healthy family members, as well as in a case-control dataset comprising 1272 healthy population controls and 1681 breast cancer cases with information on family history. Family structure was summarized using the BOADICEA risk prediction model. The PRS was associated with increased disease risk in women with family history of breast cancer as well as in women within the breast cancer families. The odds ratio (OR) for breast cancer within the family dataset was 1.55 [95 % CI 1.26-1.91] per unit increase in the PRS, similar to OR in unselected breast cancer cases of the case-control dataset (1.49 [1.38-1.62]). High PRS-values were informative for risk prediction in breast cancer families, whereas for the low PRS-categories the results were inconclusive. The PRS is informative in women with family history of breast cancer and should be incorporated within pedigree-based clinical risk assessment.

  1. Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

    Science.gov (United States)

    Ionita-Laza, Iuliana; Ottman, Ruth

    2011-11-01

    The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease variants in families containing multiple affected individuals and to investigate the optimal design of studies aiming to identify rare disease variants in complex traits. We show that for many complex diseases with small values for the overall sibling recurrence risk ratio, such as Alzheimer's disease and most cancers, sequencing affected individuals with a positive family history of the disease can be extremely advantageous for identifying rare disease variants. In contrast, for complex diseases with large values of the sibling recurrence risk ratio, sequencing unselected affected individuals may be preferable.

  2. Lewandowsky and Lutz dysplasia: Report of two cases in a family

    Directory of Open Access Journals (Sweden)

    Bhawna Bhutoria

    2011-01-01

    Full Text Available Lewandowsky and Lutz dysplasia, also known as epidermodysplasia verruciformis (EV, is an inherited disorder in which there is widespread and persistent infection with human papilloma virus, defect in cell-mediated immunity and propensity for malignant transformation. Differential clinical and histopathologic evolutions of lesions in two cases of familial EV are compared and discussed in detail. Cases were followed up for 7 years. Detailed history, clinical features and investigations, including skin biopsy from different sites at different times, were examined. Generalized pityriasis versicolor like hypopigmented lesions in both the cases, together with variable pigmented nodular actinic keratosis like lesions on sun-exposed areas, were present. Multiple skin biopsies done from various sites on different occasions revealed features typical of EV along with lesions, i.e., actinic keratosis, Bowen′s disease, basal and squamous cell carcinoma, in the elder sibling. However, skin biopsy of the other sibling showed features of EV and seborrheic keratosis only till date. This study reveals that the disease progression is variable among two individuals of the same family. Malignant lesions were seen only on sun-exposed areas and may be associated with other skin lesions or infections such as angiokeratoma of Fordyce and tinea cruris, as seen in this report.

  3. Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

    Science.gov (United States)

    Peces, Ramón; Afonso, Sara; Peces, Carlos; Nevado, Julián; Selgas, Rafael

    2017-08-31

    Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Subsequently, they were diagnosed with renal amyloidosis secondary to familial Mediterranean fever and were successfully treated with anakinra and colchicine. Two brothers with familial Mediterranean fever and renal amyloidosis were the inadvertent donor and recipient, respectively, of a kidney. The recipient had presented recurrent acute febrile episodes of familial Mediterranean fever, developed nephrotic syndrome secondary to amyloidosis and needed bilateral nephrectomy and chronic dialysis. His elder brother, in apparent good health, donated his left kidney to his brother. Immediately after the kidney transplantation, both the donor and recipient presented massive proteinuria, impaired renal function and elevated serum amyloid A levels. Biopsies of the brothers' kidneys showed amyloidosis. Genetic studies thereafter revealed a homozygous variant for the MEFV gene (NM_000243.2.c.2082G > A; p.M694I) in both brothers. At this point, both the donor and recipient were treated with colchicine and anakinra, resulting in improved renal function, decreased proteinuria, undetectable serum amyloid A levels and stable renal function at 62 months of follow-up and no major adverse effects. In familial Mediterranean fever, analyses of the MEFV gene should be performed in potential live kidney donors from a direct family member (either between siblings or between parents and children). In addition, genetic studies are required when consanguinity is suspected between members involved in

  4. Using family history information to promote healthy lifestyles and prevent diseases; a discussion of the evidence

    Directory of Open Access Journals (Sweden)

    Yoon Paula W

    2010-05-01

    Full Text Available Abstract Background A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers. Discussion The purpose of the present paper is to discuss the evidence for the use of family history as a tool for primary prevention of common chronic diseases, in particular for tailored interventions aimed at promoting healthy lifestyles. The following questions are addressed: (1 What is the value of family history information as a determinant of personal disease risk?; (2How can family history information be used to motivate at-risk individuals to adopt and maintain healthy lifestyles in order to prevent disease?; and (3 What additional studies are needed to assess the potential value of family history information as a tool to promote a healthy lifestyle? Summary In addition to risk assessment, family history information can be used to personalize health messages, which are potentially more effective in promoting healthy lifestyles than standardized health messages. More research is needed on the evidence for the effectiveness of such a tool.

  5. Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

    Directory of Open Access Journals (Sweden)

    Karam Simone M.

    2000-01-01

    Full Text Available Cockayne syndrome (CS is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance. In the present study we report the first Brazilian CS family in which diagnosis was confirmed by the demonstration of decreased RNA synthesis in cultured fibroblasts exposed to UV-C radiation. Despite the progressive course of the disease and the unavailability of an effective treatment, diagnosis may be very important for the benefits to be gained by the afflicted family from genetic counseling and/or prenatal diagnosis.

  6. Using family history information to promote healthy lifestyles and prevent diseases; A discussion of the evidence

    NARCIS (Netherlands)

    L. Claassen (Liesbeth); L. Henneman (Lidewij); A.C.J.W. Janssens (Cécile); M. Wijdenes-Pijl (Miranda); N. Qureshi (Nadeem); F.M. Walter (Fiona); P.W. Yoon (Paula); D.R.M. Timmermans (Danielle)

    2010-01-01

    textabstractBackground. A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers. Discussion. The purpose of the

  7. Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis

    NARCIS (Netherlands)

    Sepulveda-Falla, Diego; Barrera-Ocampo, Alvaro; Hagel, Christian; Korwitz, Anne; Vinueza-Veloz, Maria Fernanda; Zhou, Kuikui; Schonewille, Martijn; Zhou, Haibo; Velazquez-Perez, Luis; Rodriguez-Labrada, Roberto; Villegas, Andres; Ferrer, Isidro; Lopera, Francisco; Langer, Thomas; De Zeeuw, Chris I; Glatzel, Markus

    2014-01-01

    Familial Alzheimer's disease (FAD) is characterized by autosomal dominant heritability and early disease onset. Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia w

  8. Using family history information to promote healthy lifestyles and prevent diseases; A discussion of the evidence

    NARCIS (Netherlands)

    L. Claassen (Liesbeth); L. Henneman (Lidewij); A.C.J.W. Janssens (Cécile); M. Wijdenes-Pijl (Miranda); N. Qureshi (Nadeem); F.M. Walter (Fiona); P.W. Yoon (Paula); D.R.M. Timmermans (Danielle)

    2010-01-01

    textabstractBackground. A family history, reflecting genetic susceptibility as well as shared environmental and behavioral factors, is an important risk factor for common chronic multifactorial diseases such as cardiovascular diseases, type 2 diabetes and many cancers. Discussion. The purpose of the

  9. Familial Analysis of Seropositivity to Trypanosoma cruzi and of Clinical Forms of Chagas Disease

    Science.gov (United States)

    Silva-Grecco, Roseane L.; Balarin, Marly A. S.; Correia, Dalmo; Prata, Aluízio; Rodrigues, Virmondes

    2010-01-01

    A cross-sectional study was carried out in Água Comprida, MG, Brazil, a region previously endemic to Chagas disease whose vectorial transmission was interrupted around 20 year ago. A total of 998 individuals were examined for anti-Trypanosoma cruzi antibodies. Seropositivity was observed in 255 subjects (25.5%), and 743 subjects were negative. Forty-one families with 5–80 individuals with similar environmental conditions were selected for familial analysis. In 15 families, seropositivity to T. cruzi was observed in > 50% of individuals. The segregation analysis confirmed family aggregation for the seropositivity to the T. cruzi. Heart commitment was the major clinical form observed, and in six families, > 50% of the individuals display cardiopathy that may be attributed to T. cruzi infection. Our results support the hypothesis that there is a family aggregation for the seropositivity but without the effect of one major gene. PMID:20064994

  10. Family Influences on Self-Reported Delinquency among High School Students.

    Science.gov (United States)

    Peiser, Nadine C.; Heaven, Patrick C. L.

    1996-01-01

    Analyzes the effect of certain family processes on adolescents' self-reported delinquency and investigates whether self-esteem and locus of control mediate these effects. Results indicate that parental discipline style predicts self-reported delinquency. Also, a link between positive family relations and high self-esteem among males emerged. (RJM)

  11. Repeated Dientamoeba fragilis infections: a case report of two families from Sydney, Australia

    Directory of Open Access Journals (Sweden)

    Damien Stark

    2009-11-01

    Full Text Available We report cases of two unrelated families who both presented with recurrent Dienta-moeba fragilis infections. Subsequent antimicrobial therapy resulted in the clearance of D. fragilis and total resolution of gastrointestinal symptoms in both families. This report highlights the potentially recurrent nature of D. fragilis infections and the need for laboratories to routinely test for this organism.

  12. Self-Reported Work and Family Stress of Female Primary Teachers.

    Science.gov (United States)

    Thomas, Narelle; Clarke, Valerie; Lavery, Judy

    2003-01-01

    Results of a self-report questionnaire indicated that female primary teachers in Australia report moderate levels of global, work, and family stress. Time and workload pressure was the major work stressor, and responsibility for child rearing the major family stressor. Work stress and home stress both impacted on each other. (EV)

  13. Familial clustering of hepatitis B infection in South India: A case report

    Directory of Open Access Journals (Sweden)

    Anand Pai

    2015-01-01

    Full Text Available Hepatitis B is a public health problem of worldwide importance. Familial clustering of HBV infection has been reported infrequently. Intrafamilial transmission of HBV plays a substantial role in maintaining the endemicity of the virus in the region. We report a family of 8 members, among which 5 members across 3 generations were HBsAg positive.

  14. Family Influences on Self-Reported Delinquency among High School Students.

    Science.gov (United States)

    Peiser, Nadine C.; Heaven, Patrick C. L.

    1996-01-01

    Analyzes the effect of certain family processes on adolescents' self-reported delinquency and investigates whether self-esteem and locus of control mediate these effects. Results indicate that parental discipline style predicts self-reported delinquency. Also, a link between positive family relations and high self-esteem among males emerged. (RJM)

  15. Self-Reported Work and Family Stress of Female Primary Teachers.

    Science.gov (United States)

    Thomas, Narelle; Clarke, Valerie; Lavery, Judy

    2003-01-01

    Results of a self-report questionnaire indicated that female primary teachers in Australia report moderate levels of global, work, and family stress. Time and workload pressure was the major work stressor, and responsibility for child rearing the major family stressor. Work stress and home stress both impacted on each other. (EV)

  16. Familial hemiplegic migraine type 1 associated with parkinsonism: a case report.

    Science.gov (United States)

    Bruun, Marie; Hjermind, Lena Elisabeth; Thomsen, Carsten; Danielsen, Else; Thomsen, Lise Lykke; Pinborg, Lars Hageman; Khabbazbavani, Nastaran; Nielsen, Joergen Erik

    2015-01-01

    Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

  17. Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report

    Directory of Open Access Journals (Sweden)

    Marie Bruun

    2015-04-01

    Full Text Available Familial hemiplegic migraine type 1 (FHM1, episodic ataxia type 2 (EA2 and spinocerebellar ataxia type 6 (SCA6 are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

  18. Caregiver roles in families affected by Huntington's disease

    DEFF Research Database (Denmark)

    Røthing, Merete; Malterud, Kirsti; Frich, Jan C

    2013-01-01

    and the hierarchical order between spouses, partners, and parents and children. The relationship between spouses and partners changed during the course of the disease. A reciprocal relationship was difficult to maintain, as the role as carer overshadowed other roles. Children of an affected parent could compensate...

  19. Genetic lipid disorders, Familial Dysbetalipoproteinemia and cardiovascular disease

    NARCIS (Netherlands)

    Koopal, C.

    2017-01-01

    Background Cardiovascular disease (CVD) is a large worldwide medical burden, with yearly increasing morbidity and mortality. An important risk factor for CVD are high cholesterol levels, with low-density lipoprotein cholesterol (LDL-C) as the main focus of research up to now. The introduction of

  20. Self-reported disability in patients with inflammatory bowel disease largely determined by disease activity and illness perceptions.

    Science.gov (United States)

    van der Have, Mike; Fidder, Herma H; Leenders, Max; Kaptein, Ad A; van der Valk, Mirthe E; van Bodegraven, Ad A; Dijkstra, Gerard; de Jong, Dirk J; Pierik, Marieke; Ponsioen, Cyriel Y; van der Meulen-de Jong, Andrea E; van der Woude, C Janneke; van de Meeberg, Paul C; Romberg-Camps, Mariëlle J L; Clemens, Cees H M; Jansen, Jeroen M; Mahmmod, Nofel; Bolwerk, Clemens J M; Vermeijden, J Reinoud; Siersema, Peter D; Oldenburg, Bas

    2015-02-01

    The inflammatory bowel disease (IBD) disability index has recently been introduced to measure patients' physical, psychological, familial, and social limitations associated with IBD. We assessed factors related to self-reported disability and the relationship between disability and direct health care costs. A large cohort of patients with Crohn's disease (CD) and ulcerative colitis (UC) was prospectively followed for 2 years by 3 monthly web-based questionnaires. At 2 years, patients completed the IBD disability index, with lower score indicating more disability. Linear regression analysis was used to examine the impact of demographics, clinical characteristics, and illness perceptions on self-reported disability. Trends in direct health care costs across the disability severity groups minimal, mild, moderate, and severe, were tested. A total of 554 patients with CD and 424 patients with UC completed the IBD disability index (response rate, 45%). Both clinical characteristics and illness perceptions significantly contributed to self-reported disability (45%-47%, P = 0.000 and 8%-12%, P = 0.000, respectively). Patients with CD scored lower on the self-reported IBD disability index than patients with UC (0.255 versus 3.890, P disease activity, illness identity (higher number of symptoms attributed to IBD), and stronger emotional response. Disease duration and disease phenotype were not associated with self-reported disability. Direct health care costs increased with the worsening of self-reported disability (P = 0.000). More disability was reported by patients with CD than by UC. Self-reported disability in IBD was mainly determined by clinical disease activity and illness perceptions but not by disease duration or disease phenotype.

  1. Lyme disease associated neuroretinitis - Case report.

    Science.gov (United States)

    Vanya, Melinda; Fejes, Imre; Jako, Maria; Tula, Areta; Terhes, Gabriella; Janaky, Marta; Bartfai, Gyorgy

    2015-12-01

    We describe a rare case of Lyme disease complicated by unilateral neuroretinitis in the right eye. We report a case of a 27-year-old woman with blurred vision on her right eye. Because of the suspicion of optic neuritis (multiplex sclerosis) neurological examination was ordered. Surprisingly, computer tomography of the brain revealed incomplete empty sella, which generally results not monocular, but bilateral optic nerve swelling. Opthalmological examination (ophthalmoscopy and optical coherence tomography) indicated not only monocular optic nerve, but retinal oedema next to the temporal part of the right optic disk. Visual evoked potentials (VEP) demonstrated no P100 latency delay and mild differences between the amplitudes of the responses of the left and right eye. Optical coherence tomography (OCT) demonstrated the swelling of the optic nerve head and oedematous retina at the temporal part of the disk. Suspicion of an inflammatory cause of visual disturbance blood tests was ordered. Doxycycline treatment was ordered till the result of the blood test arrived. The Western blot and ELISA test were positive for Borrelia burgdorferi sensu lato. Following one week corticosteroide and ceftriaxone treatments, the patient displayed a clinical improvement. Unilateral neuroretinitis with optic disk swelling due to neuroborreliosis is a rare complication and in many cases it is difficult to distinguish between inflammatory and ischemic lesions. Further difficulty in the diagnosis can occur when intracranial alterations such as empty sella is demonstrated by CT examination.

  2. The prevalence of celiac disease among patients with familial mediterranean Fever.

    Science.gov (United States)

    Işikay, Sedat; Işikay, Nurgül; Kocamaz, Halil

    2015-01-01

    Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.

  3. THE PREVALENCE OF CELIAC DISEASE AMONG PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER

    Directory of Open Access Journals (Sweden)

    Sedat IŞIKAY

    2015-03-01

    Full Text Available Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA. Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81. Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.

  4. Relevance of Chronic Lyme Disease to Family Medicine as a Complex Multidimensional Chronic Disease Construct: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Liesbeth Borgermans

    2014-01-01

    Full Text Available Lyme disease has become a global public health problem and a prototype of an emerging infection. Both treatment-refractory infection and symptoms that are related to Borrelia burgdorferi infection remain subject to controversy. Because of the absence of solid evidence on prevalence, causes, diagnostic criteria, tools and treatment options, the role of autoimmunity to residual or persisting antigens, and the role of a toxin or other bacterial-associated products that are responsible for the symptoms and signs, chronic Lyme disease (CLD remains a relatively poorly understood chronic disease construct. The role and performance of family medicine in the detection, integrative treatment, and follow-up of CLD are not well studied either. The purpose of this paper is to describe insights into the complexity of CLD as a multidimensional chronic disease construct and its relevance to family medicine by means of a systematic literature review.

  5. Relevance of chronic lyme disease to family medicine as a complex multidimensional chronic disease construct: a systematic review.

    Science.gov (United States)

    Borgermans, Liesbeth; Goderis, Geert; Vandevoorde, Jan; Devroey, Dirk

    2014-01-01

    Lyme disease has become a global public health problem and a prototype of an emerging infection. Both treatment-refractory infection and symptoms that are related to Borrelia burgdorferi infection remain subject to controversy. Because of the absence of solid evidence on prevalence, causes, diagnostic criteria, tools and treatment options, the role of autoimmunity to residual or persisting antigens, and the role of a toxin or other bacterial-associated products that are responsible for the symptoms and signs, chronic Lyme disease (CLD) remains a relatively poorly understood chronic disease construct. The role and performance of family medicine in the detection, integrative treatment, and follow-up of CLD are not well studied either. The purpose of this paper is to describe insights into the complexity of CLD as a multidimensional chronic disease construct and its relevance to family medicine by means of a systematic literature review.

  6. Characteristics of familial aggregation in early-onset Alzheimer`s disease: Evidence of subgroups

    Energy Technology Data Exchange (ETDEWEB)

    Campion, D. [INSERM, Paris (France); Martinez, M.; Babron, M.C. [and others

    1995-06-19

    Characteristics of familial aggregation of Alzheimer`s Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrant by age 90 years, is segregating within all these pedigrees. Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early-onset Alzheimer`s disease. 58 refs., 5 figs., 2 tabs.

  7. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

    OpenAIRE

    Pfeiffer Ronald F; Rudolph Alice; Halter Cheryl A; Pauciulo Michael W; Kissell Diane K; Pankratz Nathan; Simon David K; Nichols William C; Foroud Tatiana

    2010-01-01

    Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to t...

  8. Pyroglutamate Abeta pathology in APP/PS1KI mice, sporadic and familial Alzheimer's disease cases.

    Science.gov (United States)

    Wirths, Oliver; Bethge, Tobias; Marcello, Andrea; Harmeier, Anja; Jawhar, Sadim; Lucassen, Paul J; Multhaup, Gerd; Brody, David L; Esparza, Thomas; Ingelsson, Martin; Kalimo, Hannu; Lannfelt, Lars; Bayer, Thomas A

    2010-01-01

    The presence of Abeta(pE3) (N-terminal truncated Abeta starting with pyroglutamate) in Alzheimer's disease (AD) has received considerable attention since the discovery that this peptide represents a dominant fraction of Abeta peptides in senile plaques of AD brains. This was later confirmed by other reports investigating AD and Down's syndrome postmortem brain tissue. Importantly, Abeta(pE3) has a higher aggregation propensity, and stability, and shows an increased toxicity compared to full-length Abeta. We have recently shown that intraneuronal accumulation of Abeta(pE3) peptides induces a severe neuron loss and an associated neurological phenotype in the TBA2 mouse model for AD. Given the increasing interest in Abeta(pE3), we have generated two novel monoclonal antibodies which were characterized as highly specific for Abeta(pE3) peptides and herein used to analyze plaque deposition in APP/PS1KI mice, an AD model with severe neuron loss and learning deficits. This was compared with the plaque pattern present in brain tissue from sporadic and familial AD cases. Abundant plaques positive for Abeta(pE3) were present in patients with sporadic AD and familial AD including those carrying mutations in APP (arctic and Swedish) and PS1. Interestingly, in APP/PS1KI mice we observed a continuous increase in Abeta(pE3) plaque load with increasing age, while the density for Abeta(1-x ) plaques declined with aging. We therefore assume that, in particular, the peptides starting with position 1 of Abeta are N-truncated as disease progresses, and that, Abeta(pE3) positive plaques are resistant to age-dependent degradation likely due to their high stability and propensity to aggregate.

  9. Sibling Sexual Fantasies in Family Therapy: A Case Report

    Science.gov (United States)

    Mordock, John B.

    1974-01-01

    Therapist describes work with a family troubled about the behavior of a preadolescent daughter. Through the session the group is able to discuss the sexual fantasies and child-play that have occurred, and each member is better able to open up to the others. Relationships improve. (CJ)

  10. SECONDARY RETENTION OF PERMANENT MOLARS - A REPORT OF 5 FAMILIES

    NARCIS (Netherlands)

    RAGHOEBAR, GM; TENKATE, LP; HAZENBERG, CAM; BOERING, G; VISSINK, A

    1992-01-01

    The aetiopathogenesis of secondary retention is not fully understood, but heredity is involved in at least some cases. In this study first-degree relatives of 52 patients with secondary retention of permanent molars were screened for the presence of the same phenomenon in their dentition. Familial o

  11. Child and Family Development Research. OPRE Report 2014-89

    Science.gov (United States)

    Administration for Children & Families, 2014

    2014-01-01

    This catalog provides short descriptions of major Division of Child and Family Development (DCFD) projects from Fiscal Year 2014. Multiple projects are described in the areas of child care, Head Start/Early Head Start, child welfare promotion, and the recognition of cultural diversity. An additional section features projects that fall into more…

  12. [Sarcoptic mange: report of an outbreak in a family and their pet].

    Science.gov (United States)

    Gallegos, José L; Budnik, Isolda; Peña, Anamaría; Canales, Marilena; Concha, Mónica; López, Javier

    2014-02-01

    Scabies caused by the genus Sarcoptes scabiei var canis is a prevalent infection in dogs and affects abandoned, malnourished and overcrowded animals, causing hair loss and an intensely pruritic crusting dermatitis. In humans the manifestation is a self-limiting pruritic dermatitis, but persistent cases are described. An outbreak of sarcoptic mange is reported in a family group (seven people, including a 5 month infant and his mother). The infective source was their own house dog who was taken from the street. The diagnosis was confirmed by the detection of mites and eggs in the acarotest of the dog and mites of S. scabei in the infant. Sarcoptic mange should be suspected in individuals with allergic dermatitis who have contact with dogs. Treatment in humans is usually symptomatic and may need miticides if the infection persists. The control of the disease requires an appropriate pet treatment.

  13. Family Members' Reports of the Technology Use of Family Members with Intellectual and Developmental Disabilities

    Science.gov (United States)

    Palmer, S. B.; Wehmeyer, M. L.; Davies, D. K.; Stock, S. E.

    2012-01-01

    Background: A nationwide survey of family members of people with intellectual and developmental disabilities ranging in age from birth through adulthood was conducted to replicate a similar effort by Wehmeyer and update the knowledge base concerning technology use by people with intellectual and developmental disabilities. Method: Survey responses…

  14. Familial congenital hepatic fibrosis: report of a family with three affected children.

    Directory of Open Access Journals (Sweden)

    Fatemeh Farahmand

    2013-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. Herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (CHF. Prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affected patients.

  15. Familial hyperhomocysteinemia, age and peripheral vascular diseases - an Italian study

    Directory of Open Access Journals (Sweden)

    Sandro Michelini

    2013-01-01

    Full Text Available Hyperhomocysteinemia is a widely recognized, although not yet entirely understood, risk factor for cardiovascular disease. Particularly, the complex relationships between age, hyperhomocysteinemia, predisposing genetic factors and peripheral vascular diseases have not been fully evaluated. Our contribution to this issue is a retrospective analysis of a large series of patients with peripheral arterial, venous and lymphatic disease, and of their blood relatives, with special reference to homocysteine plasma levels, age and methylenetetrahydrofolate reductase (MTHFR polymorphisms. Serum homocysteine was measured in 477 patients (286 males, 191 females, age range 19-78 years with various vascular clinical conditions: postphlebitic syndrome (46 recurrent venous ulcers (78, arterial diseases (101 primary lymphoedema (87, secondary lymphoedema (161 and outlet thoracic syndrome (4, and in 50 normal controls. A MTHFR study for polymorphisms was carried on in the subjects with homocysteine values exceeding 15 mol/L. Serum homocysteine determination and MTHFR polymorphism studies were performed also in 1430 healthy blood related relatives (mainly siblings, descendents and sibling descendents of the subjects with hyperhomocysteinemia and MTHFR polymorphisms. We found MTHFR polymorphisms in 20% of controls and in 69.3%, 69.5% and 53.8% of hyperhomocysteinemic subjects with arterial diseases, postphlebitic syndrome and venous ulcers, respectively. As expected, the percentage of hyperhomocysteinemia in patients with secondary lymphoedema and with thoracic outlet syndrome did not show significant differences compared to the control group. A MTHFR polymorphism was found in 116 out of the 214 hyperhomocysteinemic patients, i.e., in the 54% of the overall patient population with hyperhomocysteinemia (214 patients. Interestingly 750 (52% out of the 1430 blood relatives of the 116 patients with hyperhomocysteinemia and MTHFR polymorphisms showed at least one

  16. Family history and disease outcomes in patients with Crohn's disease: A comparison between China and the United States.

    Science.gov (United States)

    Wang, Pei-Qi; Hu, Jun; Al Kazzi, Elie S; Akhuemonkhan, Eboselume; Zhi, Min; Gao, Xiang; de Paula Pessoa, Raquel Holand; Ghazaleh, Sami; Cornelius, Tuhina; Sabunwala, Suhel Abbas; Ghadermarzi, Shadi; Tripathi, Kartikeya; Lazarev, Mark; Hu, Pin-Jin; Hutfless, Susan

    2016-11-06

    To investigate the differences in family history of inflammatory bowel disease (IBD) and clinical outcomes among individuals with Crohn's disease (CD) residing in China and the United States. We performed a survey-based cross-sectional study of participants with CD recruited from China and the United States. We compared the prevalence of IBD family history and history of ileal involvement, CD-related surgeries and IBD medications in China and the United States, adjusting for potential confounders. We recruited 49 participants from China and 145 from the United States. The prevalence of family history of IBD was significantly lower in China compared with the United States (China: 4.1%, United States: 39.3%). The three most commonly affected types of relatives were cousin, sibling, and parent in the United States compared with child and sibling in China. Ileal involvement (China: 63.3%, United States: 63.5%) and surgery for CD (China: 51.0%, United States: 49.7%) were nearly equivalent in the two countries. The lower prevalence of familial clustering of IBD in China may suggest that the etiology of CD is less attributed to genetic background or a family-shared environment compared with the United States. Despite the potential difference in etiology, surgery and ileal involvement were similar in the two countries. Examining the changes in family history during the continuing rise in IBD may provide further insight into the etiology of CD.

  17. Prevalence of self reported musculoskeletal diseases is high

    NARCIS (Netherlands)

    H.S.J. Picavet (Susan); J.M.W. Hazes (Mieke)

    2003-01-01

    textabstractOBJECTIVES: To present the prevalence of self reported musculoskeletal diseases, the coexistence of these diseases, the test-retest reliability with six months in between, and the association with musculoskeletal pain symptoms. METHODS: Twelve layman descriptions of com

  18. Family history of atherosclerotic vascular disease is associated with the presence of abdominal aortic aneurysm.

    Science.gov (United States)

    Ye, Zi; Bailey, Kent R; Austin, Erin; Kullo, Iftikhar J

    2016-02-01

    We investigated whether family history (FHx) of atherosclerotic cardiovascular disease (ASCVD) was associated with presence of abdominal aortic aneurysm (AAA). The study cohort comprised of 696 patients with AAA (70±8 years, 84% men) and 2686 controls (68±10 years, 61% men) recruited from noninvasive vascular and stress electrocardiogram (ECG) laboratories at Mayo Clinic. AAA was defined as a transverse diameter of abdominal aorta ⩾ 3 cm or history of AAA repair. Controls were not known to have AAA. FHx was defined as having at least one first-degree relative with aortic aneurysm or with onset of ASCVD (coronary, cerebral or peripheral artery disease) before age 65 years. FHx of aortic aneurysm or ASCVD were each associated with presence of AAA after adjustment for age, sex, conventional risk factors and ASCVD: adjusted odds ratios (OR; 95% confidence interval): 2.17 (1.66-2.83, p aortic aneurysm: adjusted OR: 1.27 (1.05-1.55, p = 0.01). FHx of ASCVD in multiple arterial locations was associated with higher odds of having AAA: the adjusted odds were 1.23 times higher for each additionally affected arterial location reported in the FHx (1.08-1.40, p = 0.01). Our results suggest both unique and shared environmental and genetic factors mediating susceptibility to AAA and ASCVD.

  19. Fahr’s Disease: A Case Report

    OpenAIRE

    İlhan Kılınç

    2007-01-01

    Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type...

  20. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia

    OpenAIRE

    Long Cui; Emily Hoi-Man Wong; Guo Cheng; Manoel Firmato de Almeida; Man-Ting So; Pak-Chung Sham; Stacey S Cherny; Paul Kwong-Hang Tam; Maria-Mercè Garcia-Barceló

    2013-01-01

    We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4). WS4 is characterized by pigmentary abnormalities of the skin, eyes and/or hair, sensorineural deafness and HSCR. None of the members had sensorineural deafness. The family was screened for copy number variations (CNVs)...

  1. A Family with Russel Silver Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Alpaslan Tuzcu

    2004-01-01

    Full Text Available Russel Silver Syndrome (RSS is a very rare syndrome with phenotypicchanges and its etiology has not explained yet. In 1953 and 1954, a specialgroup of Intrauterin Growth Reterdation, childiren with short staturealong a small triangular face, low-set ears, incurved fifth fingers and othercharactheristics were described. Our patient who come us with shortstature was a twenty years old man. His parents were relatives and he wasthe second child of a family with six children. His length was 155 cm, under-3SD. Also he had a small triangular face, his lips were towards downrightand a small mandibula. Incurved fifth fingers and short stature werepresent in all members of the family.As the result, RSS must be thought inpatients with short sature, especially who has similar phenotypicspecialities as our patient.

  2. Hospital Admissions, Biological Therapy, and Surgery in Familial and Sporadic Cases of Inflammatory Bowel Disease

    DEFF Research Database (Denmark)

    Trier Moller, Frederik; Andersen, Vibeke; Andersson, Mikael;

    2015-01-01

    -related hospitalization, biological treatment, and surgery in familial versus sporadic cases of IBD. RESULTS: A total of 27,886 IBD cases, including 1006 IBD-relative pairs, were followed-up for up to 16 years, totaling 164,979 person-years. We observed no difference in risk of hospital admissions between familial...... and sporadic cases of IBD. However, patients with familial CD had significantly higher risk of major surgery than sporadic CD cases after 2 years of disease duration (hazard ratio, 1.62; 95% confidence interval, 1.26-2.07). Also, sensitivity analysis suggested a slightly reduced time from diagnosis to first...... tumor necrosis factor-α inhibitor treatment among familial CD and UC cases as compared with sporadic cases. CONCLUSION: We found only minor differences in surgery rates and tumor necrosis factor exposure, between familial and sporadic cases of IBD. These findings may represent purely social rather than...

  3. Parental consanguinity and family history of coronary artery disease strongly predict early stenosis.

    Science.gov (United States)

    Youhanna, Sonia; Platt, Daniel E; Rebeiz, Abdallah; Lauridsen, Michael; Deeb, Mary E; Nasrallah, Antoine; Alam, Samir; Puzantian, Houry; Kabbani, Samer; Ghoul, Melanie; Zreik, Tony G; el Bayeh, Hamid; Abchee, Antoine; Zalloua, Pierre

    2010-10-01

    Coronary artery disease (CAD) is a multifactorial disease with acquired and inherited components. We investigated the roles of family history and consanguinity on CAD risk and age at diagnosis in 4284 patients. The compounded impact of diabetes, hyperlipidemia, hypertension, smoking, and BMI, which are known CAD risk factors, on CAD risk and age at diagnosis was also explored. CAD was determined by cardiac catheterization. Logistic regression and stratification were performed to determine the impact of family history and consanguinity on risk and onset of CAD, controlling for diabetes, hyperlipidemia, hypertension, smoking, and BMI. Family history of CAD and gender significantly increased the risk for young age at diagnosis of CAD (p<0.001). Consanguinity did not promote risk of CAD (p=0.38), but did affect age of disease diagnosis (p<0.001). The mean age at disease diagnosis was lowest, 54.8 years, when both family history of CAD and consanguinity were considered as unique risk factors for CAD, compared to 62.8 years for the no-risk-factor patient category (p<0.001). Family history of CAD and smoking are strongly associated with young age at diagnosis. Furthermore, parental consanguinity in the presence of family history lowers the age of disease diagnosis significantly for CAD, emphasizing the role of strong genetic and cultural CAD modifiers. These findings highlight the increased role of genetic determinants of CAD in some population subgroups, and suggest that populations and family structure influence genetic heterogeneity between patients with CAD. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  4. Life in low income families in Scotland: research report

    OpenAIRE

    McKendrick, John H; Cunningham-Burley, Sarah; Backett-Milburn, Kathryn

    2003-01-01

    Living on a low income is a problem that the Scottish Executive and UK Parliament want to tackle. Previous work has focused on measuring the number of people living on a low income. This research was commissioned to understand better what life is like for people living in low income families with children in Scotland. It also investigated what people living on a low income think about poverty. The research involved a literature review and 18 focus group interviews with adults, young ...

  5. Intraoral Morgellons disease or delusional parasitosis: a first case report.

    Science.gov (United States)

    Dovigi, Allan J

    2010-08-01

    Morgellons disease is a new emerging disease that is still controversial and believed to be, by some practitioners, as nothing more than delusional parasitosis. The Center for Disease Control has recently launched an epidemiological investigation into this disease due to the increased number of reports. A first case is reported of an oral lesion and symptoms consistent with Morgellons disease. The nature of the characteristic fibers associated with the intraoral lesion is investigated. Research has started at a number of institutions to elucidate the nature of this emerging disease.

  6. Prevention of cardiovascular disease in patients with familial hypercholesterolaemia: The role of PCSK9 inhibitors.

    Science.gov (United States)

    Pećin, Ivan; Hartgers, Merel L; Hovingh, G Kees; Dent, Ricardo; Reiner, Željko

    2017-09-01

    Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolaemia is relatively common, but is often underdiagnosed and undertreated. Cardiologists are likely to encounter many individuals with familial hypercholesterolaemia; however, patients presenting with premature ASCVD are rarely screened for familial hypercholesterolaemia and fasting lipid levels are infrequently documented. Given that individuals with familial hypercholesterolaemia and ASCVD are at a particularly high risk of subsequent cardiac events, this is a missed opportunity for preventive therapy. Furthermore, because there is a 50% chance that first-degree relatives of individuals with familial hypercholesterolaemia will also be affected by the disorder, the underdiagnosis of familial hypercholesterolaemia among patients with ASCVD is a barrier to cascade screening and the prevention of ASCVD in affected relatives. Targeted screening of patients with ASCVD is an effective strategy to identify new familial hypercholesterolaemia index cases. Statins are the standard treatment for individuals with familial hypercholesterolaemia; however, low-density lipoprotein cholesterol targets are not achieved in a large proportion of patients despite treatment. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors have been shown to reduce low-density lipoprotein cholesterol levels considerably in individuals with familial hypercholesterolaemia who are concurrently receiving the maximal tolerated statin dose. The clinical benefit of PCSK9 inhibitors must, however, also be considered in terms of their cost-effectiveness. Increased awareness of familial hypercholesterolaemia is required among healthcare professionals, particularly cardiologists and primary care physicians, in order to start early preventive

  7. Cystic disease, family history of breast cancer, and use of oral contraceptives.

    Science.gov (United States)

    Vakil, D V; Elinson, L; Morgan, R W

    1981-01-01

    Epidemiologic studies show a lower frequency of fibrocystic breast disease among users of oral contraceptives than among women who have never used them. Family history of breast cancer appears to be more common among benign breast disease patients than among their controls. To determine the use of oral contraceptives and the presence of family history of breast cancer, information was obtained from 211 cystic cases and their matched controls from the metropolitan Toronto area. Cystic cases compared to controls had a higher proportion of women with a family history of breast cancer (21% vs 15%). For both a positive and negative family history of breast cancer, as well as for all women combined, the mean duration of oral contraceptive use was lower for cystic cases than for controls. The odds ratio for oral contraceptive use according to family history of breast cancer for cystic cases and controls was 0.42 and 0.81 respectively. The possibility that a woman is more protected against benign breast disease by using oral contraceptives if she has a family history of breast cancer deserves more attention in future investigations on the long-term effects of birth control pills.

  8. Correlates of Adolescent-reported and Parent-reported Family Conflict Among Canadian Adolescents With Bipolar Disorder.

    Science.gov (United States)

    Timmins, Vanessa; Swampillai, Brenda; Hatch, Jessica; Scavone, Antonette; Collinger, Katelyn; Boulos, Carolyn; Goldstein, Benjamin I

    2016-01-01

    Family conflict exacerbates the course of bipolar disorder (BP) among adults. However, few studies have examined family conflict among adolescents with BP, and fewer have looked at adolescent-reported and parent-reported family conflict separately. Subjects were 89 adolescents, aged 13 to 19 years, with a diagnosis of BP on the basis of the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (KSADS-PL). Subjects were divided into high-conflict and low-conflict groups using a median split on the Conflict Behavior Questionnaire (child report and parent report). The χ(2) analyses and independent samples t tests were performed for univariate analyses. Multivariable logistic regression analyses were performed on variables with Padolescent-reported Conflict Behavior Questionnaire scores were significantly correlated (r=0.50, Padolescent-reported family conflict was positively associated with recent manic symptoms and emotional dysregulation, and negatively associated with socioeconomic status and lifetime psychiatric hospitalization. Bipolar subtype was significantly associated with high versus low family conflict. The limitations of this study included being a cross-sectional study, use of a medium-sized sample, and lack of a control group. Despite substantial agreement between adolescents and parents regarding the amount of family conflict, there were meaningful differences in the factors associated with adolescent-reported and parent-reported conflict. These findings demonstrate the importance of ascertaining family conflict from adolescents as well as from parents. Moreover, these findings can potentially inform family therapy, which is known to be effective for adolescents with BP.

  9. Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history.

    Science.gov (United States)

    Ries, F; Ferster, A; Rieux-Laucat, F; Biwer, A; Dicato, M

    2010-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease caused by defective lymphocyte apoptosis and is characterized by non-malignant lymphoproliferation, hepatosplenomegaly, autoimmune manifestations and increased risk of both Hodgkin's and non-Hodgkin's lymphoma. Most forms of the disease are due to germ line mutations of the FAS gene and manifest during the first years of life with fluctuating lymphadenopathies, hemolysis, immune thrombocytopenia. During the second decade of life disease manifestations improve spontaneously but autoimmune problems still occur and there is an increased risk of lymphoproliferative malignancy. We describe a typical case of ALPS in a now 44 year old man, followed since the age of 2 for disease manifestations that were unclear at the beginning.

  10. Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters.

    Science.gov (United States)

    Tehranifar, Parisa; Wu, Hui-Chen; Shriver, Tom; Cloud, Ann J; Terry, Mary Beth

    2015-02-01

    Information on family cancer history (FCH) is often collected for first-degree relatives, but more extensive FCH information is critical for greater accuracy in risk assessment. Using self-reported diagnosis of cancer as the gold standard, we examined differences in the sensitivity and specificity of relative-reported FCH by cancer site, race/ethnicity, language preference, and kinship degree (1,524 individuals from 557 families; average number of relatives per family = 2.7). We evaluated the impact of FCH data collected in 2007-2013 from multiple relatives by comparing mean values and proportions for the number of relatives with any cancer, breast cancer, or ovarian cancer as reported by a single relative and by multiple relatives in the same family. The sensitivity of FCH was lower in Hispanics, Spanish-speaking persons, and third-degree relatives (e.g., for all cancers, sensitivities were 80.7%, 87.4%, and 91.0% for third-, second-, and first-degree relatives, respectively). FCH reported by multiple relatives included a higher number of relatives with cancer than the number reported by a single relative (e.g., mean increase of 1.2 relatives with any cancer), with more relatives diagnosed with any cancer, breast cancer, and ovarian cancer in 52%, 36% and 12% of families, respectively. Collection of FCH data from multiple relatives may provide a more comprehensive picture of FCH and may potentially improve risk assessment and preventive care. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. Self-reported chronic somatic diseases among adolescent students in Mansoura, Egypt

    Directory of Open Access Journals (Sweden)

    Abdel-Hady El-Gilany

    2011-04-01

    Full Text Available Objectives: To estimate the prevalence of the common self-reported chronic diseases among adolescent students in public secondary schools in Mansoura, Egypt.Methods: This is a cross-sectional study conducted on a sample of 1493 adolescent students. Thirty clusters were selected to cover both general and vocational public schools of both sexes in urban and rural areas. A self-administered questionnaire was used to collect sociodemographic data from the students and their families, as well as a checklist of 15 chronic diseases.Results: About 6% of students reported one or more chronic somatic disease. The most frequent are acne vulgaris (4.2%, rheumatic heart disease (3.4%, refractive errors (1.4 and bronchial asthma (1.1%. This pattern does not show significant differences between males and females.Conclusions: Despite the self-reported nature, our findings indicate that Egyptian adolescents are not healthy as it is often considered.

  12. Ewing’s Sarcoma Family Tumors in the Jaws: Case Report, Immunohistochemical Analysis and Literature Review

    Science.gov (United States)

    CASAROTO, ANA REGINA; SAMPIERI, MARCELO BONIFACIO DA SILVA; SOARES, CLEVERSON TEIXEIRA; SANTOS, PAULO SERGIO DA SILVA; YAEDU, RENATO YASSUTAKA FARIA; DAMANTE, JOSÉ HUMBERTO; LARA, VANESSA SOARES

    2017-01-01

    Due to the low incidence of the Ewing’s Sarcoma (ES) family tumors, the available epidemiology is likely to be unreliable, and at present, there are no standard diagnostic or clinical guidelines outlining their management. This report describes a case of peripheral primitive neuroectodermal tumor (ES/pPNET) which initially mimicked cystic lesions, and describes a comparison between ES and ES/pPNET in the jaws by the World Health Organization classification. This review addressed 63 cases published in the English literature between 1950 and 2016. The majority of cases were ES. Both ES and ES/pPNET mimicked other benign entities such as traumatic, cystic and inflammatory lesions. The patients who died of their disease had a history of metastatic tumors, and primary tumor located in the mandible and maxilla for ES and ES/pPNET, respectively. The differentiation of the ES family tumors from other small blue-cell tumors may be difficult and requires familiarity with histological and immunohistochemical features. PMID:28438883

  13. Hereditary gingival fibromatosis: A report of two cases in the same family

    Directory of Open Access Journals (Sweden)

    Vanali V Umrania

    2016-01-01

    Full Text Available Overgrowth of keratinized gingival tissues is a common condition and is described under variety of names. Causes of such enlargement can be medications, hereditary, and/or local irritating factors. Mutation in SOS1, son-of-sevenless gene, is thought to be responsible for hereditary gingival fibromatosis. This report shows a case of 19-year-old male and his 15-year-old sister, with a chief complaint of overgrowth of gingival and irregularly placed teeth. A similar overgrowth was also found in other members of the same family, without any drug history or syndromic conditions. An occurrence of the disease has been found in two generations of this family and therefore, it may be following autosomal dominant trait of inheritance. Since it is idiopathic and has a genetic cause for its occurrence, it cannot be prevented. Both cases underwent a surgical intervention to rectify the abnormality and were followed from 6 months to 1 year, during which there was no recurrence.

  14. Exploring employment in consultation reports of patients with neuromuscular diseases

    NARCIS (Netherlands)

    Heerkens, Yvonne; Kuyk-Minis, Marie Antoinette van; Cup, Edith; Engels, Josephine; Engelen, Baziel van; Oostendorp, Rob

    2012-01-01

    To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients with neuromuscular diseases (NMDs). Eighty percent of the included consultation reports contained information on employment. Less than half the patients with NMD were emplo

  15. Exploring employment in consultation reports of patients with neuromuscular diseases

    NARCIS (Netherlands)

    Minis, M.A.H; Cup, E.H.C.; Heerkens, Y.F.; Engels, J.A.; Engelen, B.G. van; Oostendorp, R.A.B.

    2012-01-01

    Minis MA, Cup EH, Heerkens YF, Engels JA, van Engelen BG, Oostendorp RA. Exploring employment in consultation reports of patients with neuromuscular diseases. OBJECTIVES: To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients

  16. Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study.

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    Shufang Xu

    Full Text Available BACKGROUND: Genetic variants make some contributions to inflammatory bowel disease (IBD, including Crohn's disease (CD and ulcerative colitis (UC. More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understanding of the genetics and pathogenesis of IBD. The aim of this study, which focuses on a Han Chinese CD family, is to identify high-risk variants and potentially novel loci using whole exome sequencing technique. METHODS: Exome sequence data from 4 individuals belonging to a same family were analyzed using bioinformatics methods to narrow down the variants associated with CD. The potential risk genes were further analyzed by genotyping and Sanger sequencing in family members, additional 401 healthy controls (HC, 278 sporadic CD patients, 123 UC cases, a pair of monozygotic CD twins and another Chinese CD family. RESULTS: From the CD family in which the father and daughter were affected, we identified a novel single nucleotide variant (SNV c.374T>C (p.I125T in exon 4 of discs large homolog 1 (DLG1, a gene has been reported to play multiple roles in cell proliferation, T cell polarity and T cell receptor signaling. After genotyping among case and controls, a PLINK analysis showed the variant was of significance (PA (p.R278Q in exon 9 of DLG1. CONCLUSIONS: We have discovered novel genetic variants in the coding regions of DLG1 gene, the results support that DLG1 is a novel potential susceptibility gene for CD in Chinese patients.

  17. Comorbidity in patients with chronic obstructive pulmonary disease in family practice: a cross sectional study

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    García-Olmos Luis

    2013-01-01

    Full Text Available Abstract Background Chronic obstructive pulmonary disease (COPD is frequent and often coexists with other diseases. The aim of this study was to quantify the prevalence of COPD and related chronic comorbidity among patients aged over 40 years visiting family practices in an area of Madrid. Methods An observational, descriptive, cross-sectional study was conducted in a health area of the Madrid Autonomous Region (Comunidad Autónoma de Madrid. The practice population totalled 198,670 persons attended by 129 Family Physicians (FPs, and the study population was made up of persons over the age of 40 years drawn from this practice population. Patients were deemed to have COPD if this diagnosis appeared on their clinical histories. Prevalence of COPD; prevalence of a further 25 chronic diseases in patients with COPD; and standardised prevalence ratios, were calculated. Results Prevalence of COPD in family medicine was 3.2% (95% CI 3.0–3.3 overall, 5.3% among men and 1.4% among women; 90% of patients presented with comorbidity, with a mean of 4 ± 2.04 chronic diseases per patient, with the most prevalent related diseases being arterial hypertension (52%, disorders of lipid metabolism (34%, obesity (25%, diabetes (20% and arrhythmia (15%. After controlling for age and sex, the observed prevalence of the following ten chronic diseases was higher than expected: heart failure; chronic liver disease; asthma; generalised artherosclerosis; osteoporosis; ischaemic heart disease; thyroid disease; anxiety/depression; arrhythmia; and obesity. Conclusions Patients with COPD, who are frequent in family practice, have a complex profile and pose a clinical and organisational challenge to FPs.

  18. Navy Family Advocacy Program. Appendix. Analysis of Central Registry Reports.

    Science.gov (United States)

    1983-12-01

    2/76) 2 Suspected Abuzso/Malect/Sexua1 Assault an ae2404 65.) "Suspected Abuso /Neglect/ Sexual Assault and Rape Report" 2226 60.5 NAVMED 6320/15A...ANALYSIS OF SEXUAL ASSAULT REPORTS ........... 50 HAPTER V: SUMAY ANALYSIS Or rAMILY ADVOCACY PROGRAM REPORTS . 56 APPENDIX...cont’d)I PAGE CHAPTER IV: SEXUAL ASSAULT TV-1 Fore . . . . . . . . . . . . . . . . . . . . . 51 IV-2 Type of Maltreatment ............... 53 IV-3

  19. Nonsyndromic Familial Hyperdontia: Two Case Reports and Review of Literature

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    Pradhuman Verma

    2010-01-01

    Early clinical and radiographic examination of the supernumerary teeth allow for optimal yet minimal treatment. This article reports two rare cases of nonsyndromic hereditary hyperdontia both in the maxillary anterior region. First case report with bilateral mesiodentes palatal to the central incisors in sister and brother and second case report with presence of fused mesiodentes in father and conical mesiodens in son. Though the exact etiology of this dental anomaly remains unclear, genetics as key factor in development of supernumerary teeth is highlighted.

  20. Addison's disease and pregnancy: case report.

    Science.gov (United States)

    Cosimo, Caterina; Franco, Ciro

    2009-10-01

    Addisonian crises, a rare but life-threatening event in pregnant women, may accompany stressful conditions such as labor, puerperium, infection, hyperemesis gravidarum or surgery. A 36-year-old woman, primigravida, with Addison's disease, diagnosed when she was 10 year-old and treated with cortisone and fludrocortisone. The therapy was regulated to avoid adrenal crisis during pregnancy. The woman underwent to caesarean section at 38th week and gave birth to a normal baby. The successful management of pregnant women with Addison's disease, regarding her state and that of the foetus, reassures those women that nowadays Addison's disease and pregnancy are not incompatible when proper monitoring and management is provided.

  1. A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report.

    Science.gov (United States)

    Zhang, Yang; Chen, Ning; Zhou, Muke; Guo, Jian; Guo, Jiang; He, Li

    2016-11-08

    Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics. © International Headache Society 2016.

  2. Correlation of gastroesophageal reflux disease with positive family history and headache in Shiraz city, Southern Iran

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    Saberi-Firoozi Mehdi

    2007-01-01

    Full Text Available Background/Aims: To analyze the potential correlation of a positive family history of gastroesophageal reflux disease (GERD and the history of headaches as a risk factor for and complication of the disease. Materials and Methods: Three thousand and six hundred subjects were selected by cluster random sampling from all seven districts of Shiraz city, who were invited for interview. In five months, 1956 subjects participated in this study. A questionnaire organized into three sections of demographic, signs and symptoms of GERD, headache and family history of GERD was completed for each patient. Social and demographic variables were also recorded. Results: The presence of GERD symptoms (72% had a significant correlation with a positive family history of the disease ( P = 0.000. Patients showed a variable frequency of headache, ranging from once daily (16.7%, three to five times a week (5.6%, once-twice a week (26.7%, once to three times a month (15.0% and less than once a month (8.3%. There was a significant correlation between the headaches and the GERD symptoms ( P = 0.000. Conclusion: A positive family history of GERD can be considered as a risk factor for the disease and the presence of headache at the time of diagnosis as a complication of this disease. Therefore, in the management of GERD, attention should be given to these factors.

  3. Germline mutation screening and predictive testing in families with von Hippel-Lindau disease

    Energy Technology Data Exchange (ETDEWEB)

    Brauch, H.; Glavac, D.; Pausch, F. [Univ. of Munich (Germany)] [and others

    1994-09-01

    von Hippel-Lindau (VHL) disease is an autosomal inheritable disease that predisposes gene carriers to develop tumors in the eyes, central nervous system, kidney, adrenal gland, pancreas and epididymis. VHL type 1 is without phenochromocytoma (P); VHL type 2 is with P. Screening for germline mutations and preclinical diagnosis in families with VHL disease has become feasible since the VHL gene was isolated. We applied Southern blotting and hybridization with g7cDNA to detect rearrangements, PCR-SSCP and sequencing to detect missense, nonsense and splice mutations, and primer-specified restriction map modification to detect a P-specific missense mutation. In 48 apparently unrelated VHL families mainly from Germany, we identified 20/48 (42%) VHL mutations: 7 (14.5%) rearrangements, 9/48 (19%) missense mutations affecting nt505, 1/48 (2%) splice site mutation, 2/48 (4%) other missense mutations, and 1/48 (2%) nonsense mutation. The predominance of the nt505 mutation in 9 German families with VHL type 2 suggests that this genotype expresses the VHL/P disease pattern. Predictive testing for VHL gene carriers in families with specific mutations identified 7 asymptomatic gene carriers. VHL manifestations have been confirmed by clinical examination in two individuals. Early molecular diagnosis may result in a successful management of VHL disease and prolong survival of VHL patients.

  4. Alcoholic patients' response to their disease: perspective of patients and family

    Directory of Open Access Journals (Sweden)

    Joaquín Salvador Lima-Rodríguez

    2015-12-01

    Full Text Available Objective: to know the perspective of alcoholic patients and their families about the behavioral characteristics of the disease, identifying the issues to modify the addictive behavior and seek rehabilitation. Method: ethnographic research using interpretative anthropology, via participant observation and a detailed interview with alcoholic patients and their families, members of Alcoholics Anonymous (AA and Alanon in Spain. Results: development of disease behavior in alcoholism is complex due to the issues of interpreting the consumption model as a disease sign. Patients often remain long periods in the pre-contemplation stage, delaying the search for assistance, which often arrives without them accepting the role of patient. This constrains the recovery and is related to the social thought on alcoholism and self-stigma on alcoholics and their families, leading them to deny the disease, condition of the patient, and help. The efforts of self-help groups and the involvement of health professionals is essential for recovery. Conclusion: understanding how disease behavior develops, and the change process of addictive behavior, it may be useful for patients, families and health professionals, enabling them to act in a specific way at each stage.

  5. Non-Communicable Disease Risk Factors among Employees and Their Families of a Saudi University: An Epidemiological Study.

    Science.gov (United States)

    Alzeidan, Rasmieh; Rabiee, Fatemeh; Mandil, Ahmed; Hersi, Ahmad; Fayed, Amel

    2016-01-01

    To assess the prevalence of noncommunicable disease (NCD) risk factors among Saudi university employees and their families; to estimate the cardiovascular risk (CVR) amongst the study population in the following 10years. The NCD risk factors prevalence was estimated using a cross-sectional approach for a sample of employees and their families aged ≥ 18 years old, in a Saudi university (Riyadh in Kingdom of Saudi Arabia; KSA). WHO STEPwise standardized tools were used to estimate NCD risk factors and the Framingham Coronary Heart Risk Score calculator was used to calculate the CVR. Five thousand and two hundred subjects were invited, of whom 4,500 participated in the study, providing a response rate of 87%. The mean age of participants was 39.3±13.4 years. The majority of participants reported low fruit/vegetables consumption (88%), and physically inactive (77%). More than two thirds of the cohort was found to be either overweight or obese (72%), where 36% were obese, and 59% had abdominal obesity. Of the total cohort, 22-37% were found to suffer from dyslipidaemia, 22% either diabetes or hypertension, with rather low reported current tobacco use (12%). One quarter of participants was estimated to have >10% risk to develop cardiovascular disease within the following 10-years. The prevalence of NCD risk factors was found to be substantially high among the university employees and their families in this study.

  6. Addison's disease secondary to connective tissue diseases: a report of six cases.

    Science.gov (United States)

    Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie

    2009-04-01

    Addison's disease is an autoimmune process. However, Addison's disease associated with connective tissue diseases (CTD) is only occasionally reported. Here, we report six cases of Addison's disease secondary to a variety of CTD, which include systemic lupus erythematosus, Takayasu arteritis, systemic sclerosis, ankylosing spondylitis (AS) and antiphospholipid antibody syndrome. The association of Addison's disease with Takayasu arteritis and AS is reported for the first time. We also found high prevalence of hypothyroidism as concomitant autoimmune disorder. Our case series highlight the autoimmune features of Addison's disease. Therefore, we suggest considering adrenal dysfunction in patients with CTD.

  7. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  8. Families' First Experiences with Early Intervention: National Early Intervention Longitudinal Study. NEILS Data Report.

    Science.gov (United States)

    Bailey, Don; Scarborough, Anita; Hebbeler, Kathleen

    This report describes several aspects of families' experiences in beginning early intervention services using data from the National Early Intervention Longitudinal Study (NEILS). Funded by the U.S. Department of Education, NEILS is following a nationally representative sample of 3,338 infants and toddlers and their families from the time they…

  9. Mothers' Self-Reported Emotional Expression in Mainland Chinese, Chinese American and European American Families

    Science.gov (United States)

    Camras, Linda; Kolmodin, Karen; Chen, Yinghe

    2008-01-01

    This study compared Mainland Chinese, Chinese American and European American mothers' self-reported emotional expression within the family. Mothers of 3-year-old European American (n = 40), Chinese American (n = 39) and Mainland Chinese (n = 36) children (n = 20 girls per group) completed the Self-Expressiveness in the Family Questionnaire (SEFQ),…

  10. Fahr’s Disease: A Case Report

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    İlhan Kılınç

    2007-01-01

    Full Text Available Fahr’s disease is characterized with presence of calcifications in basal ganglions, dentate nucleus, and centrum semiovale. Common clinical findings of the disease are Parkinsonism, dystonia, chorea, ataxia, dementia, and mood disorders. We present a patient, in whom a diagnosis of Fahr disease established, with clinical and radiological findings. Neurological and physical exam of the 56 year-old female with complaints of memory loss and speech disorder for one year. Brain CT showed Fahr type calcification in the basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum. Fahr’s disease must be present in differential diagnosis of patients with calcification in basal ganglion, thalamus, periventricular white matter, centrum semiovale, and cerebellum on CT or MRI that could not be explained otherwise.

  11. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.

    Science.gov (United States)

    Peces, Ramón; Drenth, Joost P H; Te Morsche, Rene H M; González, Pedro; Peces, Carlos

    2005-12-28

    Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations. Recently, mutations in two causative genes for ADPLD, independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.

  12. Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation

    Institute of Scientific and Technical Information of China (English)

    Ramón Peces; Joost PH Drenth; Rene HM te Morsche; Pedro González; Carlos Peces

    2005-01-01

    Polycystic liver disease (PLD) is characterized by the presence of multiple bile duct-derived epithelial cysts scattered in the liver parenchyma. PLD can manifest itself in patients with severe autosomal dominant polycystic kidney disease (ADPKD). Isolated autosomal dominant polycystic liver disease (ADPLD) is genetically distinct from PLD associated with ADPKD, although it may have similar pathogenesis and clinical manifestations.Recently, mutations in two causative genes for ADPLD,independently from ADPKD, have been identified. We report here a family (a mother and her daughter) with a severe form of ADPLD not associated with ADPKD produced by a novel missense protein kinase C substrate 80K-H (PRKCSH) mutation (R281W). This mutation causes a severe phenotype, since the two affected subjects manifested signs of portal hypertension. Doppler sonography, computed tomography (CT) and magnetic resonance (MR) imaging are effective in documenting the underlying lesions in a non-invasive way.

  13. Family cord blood banking for sickle cell disease: a twenty-year experience in two dedicated public cord blood banks.

    Science.gov (United States)

    Rafii, Hanadi; Bernaudin, Françoise; Rouard, Helene; Vanneaux, Valérie; Ruggeri, Annalisa; Cavazzana, Marina; Gauthereau, Valerie; Stanislas, Aurélie; Benkerrou, Malika; De Montalembert, Mariane; Ferry, Christele; Girot, Robert; Arnaud, Cecile; Kamdem, Annie; Gour, Joelle; Touboul, Claudine; Cras, Audrey; Kuentz, Mathieu; Rieux, Claire; Volt, Fernanda; Cappelli, Barbara; Maio, Karina T; Paviglianiti, Annalisa; Kenzey, Chantal; Larghero, Jerome; Gluckman, Eliane

    2017-06-01

    Efforts to implement family cord blood banking have been developed in the past decades for siblings requiring stem cell transplantation for conditions such as sickle cell disease. However, public banks are faced with challenging decisions about the units to be stored, discarded, or used for other endeavors. We report here 20 years of experience in family cord blood banking for sickle cell disease in two dedicated public banks. Participants were pregnant women who had a previous child diagnosed with homozygous sickle cell disease. Participation was voluntary and free of charge. All mothers underwent mandatory serological screening. Cord blood units were collected in different hospitals, but processed and stored in two public banks. A total of 338 units were stored for 302 families. Median recipient age was six years (11 months-15 years). Median collected volume and total nucleated cell count were 91 mL (range 23-230) and 8.6×10(8) (range 0.7-75×10(8)), respectively. Microbial contamination was observed in 3.5% (n=12), positive hepatitis B serology in 25% (n=84), and homozygous sickle cell disease in 11% (n=37) of the collections. Forty-four units were HLA-identical to the intended recipient, and 28 units were released for transplantation either alone (n=23) or in combination with the bone marrow from the same donor (n=5), reflecting a utilization rate of 8%. Engraftment rate was 96% with 100% survival. Family cord blood banking yields good quality units for sibling transplantation. More comprehensive banking based on close collaboration among banks, clinical and transplant teams is recommended to optimize the use of these units. Copyright© Ferrata Storti Foundation.

  14. Family cord blood banking for sickle cell disease: a twenty-year experience in two dedicated public cord blood banks

    Science.gov (United States)

    Rafii, Hanadi; Bernaudin, Françoise; Rouard, Helene; Vanneaux, Valérie; Ruggeri, Annalisa; Cavazzana, Marina; Gauthereau, Valerie; Stanislas, Aurélie; Benkerrou, Malika; De Montalembert, Mariane; Ferry, Christele; Girot, Robert; Arnaud, Cecile; Kamdem, Annie; Gour, Joelle; Touboul, Claudine; Cras, Audrey; Kuentz, Mathieu; Rieux, Claire; Volt, Fernanda; Cappelli, Barbara; Maio, Karina T.; Paviglianiti, Annalisa; Kenzey, Chantal; Larghero, Jerome; Gluckman, Eliane

    2017-01-01

    Efforts to implement family cord blood banking have been developed in the past decades for siblings requiring stem cell transplantation for conditions such as sickle cell disease. However, public banks are faced with challenging decisions about the units to be stored, discarded, or used for other endeavors. We report here 20 years of experience in family cord blood banking for sickle cell disease in two dedicated public banks. Participants were pregnant women who had a previous child diagnosed with homozygous sickle cell disease. Participation was voluntary and free of charge. All mothers underwent mandatory serological screening. Cord blood units were collected in different hospitals, but processed and stored in two public banks. A total of 338 units were stored for 302 families. Median recipient age was six years (11 months-15 years). Median collected volume and total nucleated cell count were 91 mL (range 23–230) and 8.6×108 (range 0.7–75×108), respectively. Microbial contamination was observed in 3.5% (n=12), positive hepatitis B serology in 25% (n=84), and homozygous sickle cell disease in 11% (n=37) of the collections. Forty-four units were HLA-identical to the intended recipient, and 28 units were released for transplantation either alone (n=23) or in combination with the bone marrow from the same donor (n=5), reflecting a utilization rate of 8%. Engraftment rate was 96% with 100% survival. Family cord blood banking yields good quality units for sibling transplantation. More comprehensive banking based on close collaboration among banks, clinical and transplant teams is recommended to optimize the use of these units. PMID:28302713

  15. Selection bias in family reports on end of life with dementia in nursing homes.

    Science.gov (United States)

    van der Steen, Jenny T; Deliens, Luc; Ribbe, Miel W; Onwuteaka-Philipsen, Bregje D

    2012-12-01

    Selective participation in retrospective studies of families recruited after the patient's death may threaten generalizability of reports on end-of-life experiences. To assess possible selection bias in retrospective study of dementia at the end of life using family reports. Two physician teams covering six nursing home facilities in the Netherlands reported on 117 of 119 consecutive decedents within two weeks after death unaware of after-death family participation in the study. They reported on characteristics; treatment and care; overall patient outcomes such as comfort, nursing care, and outcomes; and their own perspectives on the experience. We compared results between decedents with and without family participation. The family response rate was 55%. There were no significant differences based on participation versus nonparticipation in demographics and other nursing home resident characteristics, treatment and care, or overall resident outcome. However, among participating families, physicians perceived higher-quality aspects of nursing care and outcome, better consensus between staff and family on treatment, and a more peaceful death. Participation was less likely with involvement of a new family member in the last month. Families may be more likely to participate in research with more harmonious teamwork in end-of-life caregiving. Where family participation is an enrollment criterion, comparing demographics alone may not capture possible selection bias, especially in more subjective measures. Selection bias toward more positive experiences, which may include the physician's and probably also the family's experiences, should be considered if representativeness is aimed for. Future work should address selection bias in other palliative settings and countries, and with prospective recruitment.

  16. A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

    OpenAIRE

    Zhendi Wang; Yang Wang; Jing Xiong

    2014-01-01

    Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation s...

  17. Relationship of age of onset and family history in Parkinson disease.

    Science.gov (United States)

    Barrett, Matthew J; Hac, Nicholas E; Yan, Guofen; Harrison, Madaline B; Wooten, G Frederick

    2015-04-15

    The aim of this study was to determine whether age of onset of Parkinson disease (PD) is associated with differences in PD risk and PD age of onset in parents and siblings. Clinical and detailed family history data were available for 1,114 PD probands. Proband age of onset was not associated with differences in PD prevalence or PD age of onset in parents. Proband age of PD onset disease. © 2015 International Parkinson and Movement Disorder Society.

  18. Diaphragm disease of the small intestine: an interesting case report.

    Science.gov (United States)

    Ullah, Sana; Ajab, Shereen; Rao, Rajashekhar; Raghunathan, Girish; DaCosta, Philip

    2015-06-01

    Diaphragm disease of small intestine usually presents with nonspecific clinical features. Radiological investigations often fail to differentiate it from small intestinal tumors and inflammatory bowel disease. It is therefore diagnosed on final histology after surgical resection. We hereby report an interesting case of a suspected small bowel tumor later diagnosed as diaphragm disease on histology.

  19. Prenatal and early-life predictors of atopy and allergic disease in Canadian children: results of the Family Atherosclerosis Monitoring In earLY life (FAMILY) Study.

    Science.gov (United States)

    Batool, T; Reece, P L; Schulze, K M; Morrison, K M; Atkinson, S A; Anand, S S; Teo, K K; Denburg, J A; Cyr, M M

    2016-12-01

    Prenatal and early-life environmental exposures play a key role in the development of atopy and allergic disease. The Family Atherosclerosis Monitoring In earLY life Study is a general, population-based Canadian birth cohort that prospectively evaluated prenatal and early-life traits and their association with atopy and/or allergic disease. The study population included 901 babies, 857 mothers and 530 fathers. Prenatal and postnatal risk factors were evaluated through questionnaires collected during the antenatal period and at 1 year. The end points of atopy and allergic diseases in infants were evaluated through questionnaires and skin prick testing. Key outcomes included atopy (24.5%), food allergy (17.5%), cow's milk allergy (4.8%), wheezing (18.6%) and eczema (16%). The association between infant antibiotic exposure [odds ratio (OR): 2.04, 95% confidence interval (CI): 1.45-2.88] and increased atopy was noted in the multivariate analysis, whereas prenatal maternal exposure to dogs (OR: 0.60, 95% CI: 0.42-0.84) and acetaminophen (OR: 0.68, 95% CI: 0.51-0.92) was associated with decreased atopy. This population-based birth cohort in Canada demonstrated high rates of atopy, food allergy, wheezing and eczema. Several previously reported and some novel prenatal and postnatal exposures were associated with atopy and allergic diseases at 1 year of age.

  20. Clustering of autoimmune thyroid diseases in children and adolescents: a study of 66 families.

    Science.gov (United States)

    Segni, M; Wood, J; Pucarelli, I; Toscano, V; Toscano, R; Pasquino, A M

    2001-01-01

    Autoimmune thyroid diseases (AITD) are known to be clustered in families, but to what extent this occurs in childhood and adolescence is not well defined. In order to establish the prevalence of AITD in the siblings of affected children and adolescents, we examined 73 siblings from 66 families selected on the basis of a pediatric index patient. Sixty-six families, including a total of 146 offspring, were selected on the basis of diagnosis of chronic lymphocytic thyroiditis (CLT) (n = 55) or Graves' disease (GD) (n = 11). Among the 73 siblings examined, 20 new cases of CLT (27%) were detected. L-Thyroxine therapy was required in 4/20. History of AITD was recorded in 24/66 mothers (36%), and in two fathers. Overall in these families, considering both the index patients and the new patients, 86/141 (61%) children and adolescents were affected with AITD, with a female/male ratio of 3.3:1. Our study confirms that AITD clusters in families with a high prevalence in the siblings of affected children and adolescents. These children should be followed in order to avoid undiagnosed hypothyroidism. Prospective studies are warranted to identify predictive factors for overt thyroid disease.

  1. Legionnaires' disease after a campervan holiday: a case report.

    Science.gov (United States)

    Euser, Sjoerd M; Diederen, Bram M W; Bakker, Meta; Honing, Marina L H; Bruin, Jacob P; Brandsema, Petra S; Reijnen, Linda; Den Boer, Jeroen W

    2016-01-01

    This case report describes a case of Legionnaires' disease for whom the source of infection was the campervan in which the patient had travelled for 3 months. This case shows that Legionnaires' disease can be acquired by exposure to a relatively new (not previously reported) source that is commonly used as (holiday)transportation vehicle.

  2. A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    CHEING Chor Kwan; LAU Kwok Kwong; YU Kwok Wai; CHAN Yan Wo Albert; MAK Miu Chloe

    2010-01-01

    @@ Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathies, comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms: the primarily demyelinating neuropathy CMT1 with severely decreased nerve conduction velocity (NCV) (38 m/s) but decreased amplitudes.1 CMT2A, an autosomal dominant disease caused by mitofusin 2 gene (MFN2) mutations, is the most common type of CMT2, accounting for up to 33% of familial CMT2 cases.2 We reported a patient with clinical diagnosis of CMT2 caused by a novel MFN2 mutation. To our knowledge, this is a relatively early report of genetically confirmed CMT2A in Chinese.

  3. Contemporaneous versus Retrospective Reports of Cohabitation in the Fragile Families Survey

    Science.gov (United States)

    Teitler, Julien O.; Reichman, Nancy E.; Koball, Heather

    2006-01-01

    We compare contemporaneous and retrospective reports of cohabitation among unmarried mothers in the Fragile Families and Child Wellbeing survey (N = 2,524). We find that (a) many mothers revise their reports of whether they cohabited at the time of the birth of their child and (b) revisions in reports are systematically related to individuals'…

  4. Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease

    Energy Technology Data Exchange (ETDEWEB)

    Hugot, J.P.; Laurent-Puig, P.; Gower-Rousseau, C.; Caillat-Zueman, S.; Beaugerie, L.; Dupas, J.L.; Van Gossum, A.; Bonaiti-Pellie, C.; Cortot, A.

    1994-08-15

    Segregation analyses of familial aggregations of Crohn disease have provided consistent results pointing to the involvement of a predisposing gene with a recessive mode of inheritance. Although extensively investigated, the role played by human leucocyte antigen (HLA) genes in this inflammatory bowel disease remains elusive and the major histocompatibility complex is a candidate region for the mapping of the Crohn disease susceptibility gene. A total of 25 families with multiple cases of Crohn disease was genotyped for HLA DRB1 and for 16 highly polymorphic loci evenly distributed on chromosome 6. The data were subjected to linkage analysis using the lod score method. Neither individual nor combined lod scores for any family and for any locus tested reached values suggesting linkage or genetic heterogeneity. The Crohn disease predisposing locus was excluded from the whole chromosome 6 with lod scores less than -2. It was excluded from the major histocompatibility complex and from 91% of the chromosome 6 genetic map with lod scores less than -4. The major recessive gene involved in genetic predisposition to Crohn disease does not reside on the major histocompatibility complex nor on any locus mapping to chromosome 6. 37 refs., 2 figs., 2 tabs.

  5. Environmental, medical, and family history risk factors for Parkinson's disease: a New England-based case control study.

    Science.gov (United States)

    Taylor, C A; Saint-Hilaire, M H; Cupples, L A; Thomas, C A; Burchard, A E; Feldman, R G; Myers, R H

    1999-12-15

    Controversy persists about the etiology of Parkinson's disease (PD). Pesticides, herbicides, well-water consumption, head injury, and a family history of PD have been reported as risk factors for PD. The purpose of this study was to (1) investigate the impact of environmental factors on PD risk (2) estimate the chronology, frequency, and duration of those exposures associated with PD; and (3) investigate the effects of family history on PD risk. One-hundred and forty PD cases were recruited from Boston University Medical Center. The control group was composed of 147 friends and in-laws of PD patients. Environmental, medical, and family history data were obtained by structured interview from each participant for events recalled prior to PD onset for cases, or corresponding censoring age for controls (mean age = 56 years of age for each group). A traditional stratified analysis, adjusting for birth cohort and sex, was employed. Four factors were associated with increased risk for PD: (1) head injury (OR=6.23, confidence interval [CI]: 2.58-15.07); (2) family history of PD (OR=6.08, CI: 2.35-15. 58); (3) family history of tremor (OR=3.97, CI: 1.17-13.50); and (4) history of depression (OR=3.01, CI: 1.32-6.88). A mean latency of 36. 5 (SE=2.81) years passed between the age of first reported head injury and PD onset. A mean latency of 22 (SE=2.66) years passed between the onset of the first reported symptoms of depression and onset of PD. Years of education, smoking, and well-water intake were inversely associated with PD risk. PD was not associated with exposure to pesticides or herbicides. These findings support the role of both environmental and genetic factors in the etiology in PD. The results are consistent with a multifactorial model. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:742-749, 1999.

  6. Work-Family Conflict Modifies the Association of Smoking and Periodontal Disease.

    Science.gov (United States)

    Brennan, David S; Spencer, A John; Roberts-Thomson, Kaye F

    2017-02-01

    The aims of the study were to assess the association of periodontal loss of attachment with smoking and work-family conflict and assess whether work-family conflict modifies the association of smoking and periodontal disease. A random sample of 45-54 year olds from metropolitan Adelaide, South Australia, was surveyed by mailed self-complete questionnaire during 2004-2005. Oral examinations were performed on persons who responded to the questionnaire, providing an assessment of periodontal status. A total of 879 responded (participation rate = 43.8 %), with n = 709 oral examinations (completion rate = 80.7 %). Prevalence of periodontal loss of attachment (LOA) of 6+ mm was higher (p periodontal disease. Higher levels of work interfering with family were associated with higher levels of periodontal LOA for smokers compared with non-smokers.

  7. Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia: Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).

    Science.gov (United States)

    Pérez de Isla, Leopoldo; Alonso, Rodrigo; Mata, Nelva; Saltijeral, Adriana; Muñiz, Ovidio; Rubio-Marin, Patricia; Diaz-Diaz, José L; Fuentes, Francisco; de Andrés, Raimundo; Zambón, Daniel; Galiana, Jesús; Piedecausa, Mar; Aguado, Rocio; Mosquera, Daniel; Vidal, José I; Ruiz, Enrique; Manjón, Laura; Mauri, Marta; Padró, Teresa; Miramontes, José P; Mata, Pedro

    2016-09-01

    Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)-related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arterial and cerebrovascular disease. Our aim was to analyze ASCVD prevalence and characteristics in different arterial territories in a large FH population, to compare them with an unaffected control population and to determine which factors are associated to ASCVD. SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is an ongoing registry of molecularly defined patients with heterozygous FH in Spain. ASCVD in the different arterial territories was analyzed, as well as individual characteristics, genetic variables, and lipid-lowering therapies. The study recruited 4132 subjects (3745 ≥18 years); 2,752 of those enrolled were molecularly diagnosed FH cases. Median age was 44.0 years (45.9% men) and 40 years (46.6% men) in FH patients and unaffected relatives (P50 mg/dL were independently associated with ASCVD. The prevalence of ASCVD is higher, and the involvement of the arterial territories is different in FH patients when compared with their unaffected relatives. Age, male sex, increased body mass index, hypertension, type 2 diabetes mellitus, smoking habit, and lipoprotein(a) >50 mg/dL were independently associated to ASCVD. URL: https://www.clinicaltrials.gov. Unique identifier: NCT02693548. © 2016 American Heart Association, Inc.

  8. Association of coronary heart disease with age-adjusted aortocoronary calcification in patients with familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Jensen, J M; Gerdes, Lars Ulrik; Jensen, H K

    2000-01-01

    OBJECTIVES: Existing algorithms of risk of coronary heart disease (CHD) do not pertain to patients with familial hypercholesterolaemia (FH), whose arteries have been exposed to hypercholesterolaemia since birth. We studied a cohort of FH patients to compare four diagnostic models of CHD: traditio...

  9. Feasibility of recruiting families into a heart disease prevention program based on dietary patterns

    Science.gov (United States)

    Offspring of parents with a history of cardiovascular disease (CVD) inherit a similar genetic profile and share diet and lifestyle behaviors. This study aimed to evaluate the feasibility of recruiting families at risk of CVD to a dietary prevention program, determine the changes in diet achieved, an...

  10. Score test for familial aggregation in probands studies: application to Alzheimer's disease

    NARCIS (Netherlands)

    D. Commenges; H. Jacqmin; L. Letenneur; C.M. van Duijn (Cock)

    1995-01-01

    textabstractWhen studying familial aggregation of a disease, the following two-stage design is often used: first select index subjects (cases and controls); then record data on their relatives. The likelihood corresponding to this design is derived and a score test of homogeneity is proposed for tes

  11. Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction.

    Science.gov (United States)

    Steiner, I; Steinberg, A; Argov, Z; Faber, J; Fich, A; Gilai, A

    1987-06-01

    Chronic idiopathic intestinal pseudo-obstruction (CIIP) is characterized by recurrent episodes of bowel obstruction without mechanical cause. In five members of two Jewish-Iranian families, CIIP was associated with progressive neuronal disease, starting before age 30, with ophthalmoplegia, sensorimotor peripheral neuropathy, and hearing loss. There was no evidence of CNS involvement. The pattern suggested autosomal recessive inheritance.

  12. TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

    NARCIS (Netherlands)

    H. Seelaar (Harro); H. Jurgen Schelhaas; A. Azmani (Asma); B. Küsters (Benno); S.M. Rosso (Sonia); D.F. Majoor-Krakauer (Danielle); M.C. de Rijik (Maarten); P. Rizzu (Patrizia); M. ten Brummelhuis (Ming); P.A. van Doorn (Pieter); W. Kamphorst (Wouter); R. Willemsen (Rob); J.C. van Swieten

    2007-01-01

    textabstractFrontotemporal dementia is accompanied by motor neuron disease (FTD + MND) in ∼10% of cases. There is accumulating evidence for a clinicopathological overlap between FTD and MND based on observations of familial aggregation and neuropathological findings of ubiquitin-positive neuronal cy

  13. Partial External Biliary Diversion in Children With Progressive Familial Intrahepatic Cholestasis and Alagille Disease

    NARCIS (Netherlands)

    Yang, Huiqi; Porte, Robert J.; Verkade, Henkjan J.; De Langen, Zacharias J.; Hulscher, Jan B. F.

    2009-01-01

    Background: Partial external biliary diversion (PEBD) is a promising treatment for children with progressive familial intrahepatic cholestasis (PFIC) and Alagille disease. Little is known about long-term Outcomes. Patients and Methods: A retrospective chart review of all patients undergoing PEBD in

  14. Coronary heart disease risk : family history and gene-environment interaction

    NARCIS (Netherlands)

    Boer, J.

    1999-01-01

    The first part of this thesis describes research into lifestyle, genetic, and biological factors that may underlie the increased risk for coronary heart disease (CHD) in individuals with a family history of this disorder. The second part of this thesis describes whether levels of plasma lipids and l

  15. Moral landscapes and everyday life in families with Huntington´s Disease

    DEFF Research Database (Denmark)

    Huniche, Lotte

    2011-01-01

    nor the imagined solutions of medical genetics are as unproblematic and straightforward as might be thought. To assist our understanding of the moral aspects of living with severe familial disease, the ethnographic analysis is aligned with bioethical reflections that place the concrete concerns...

  16. The role of family in a dietary risk reduction intervention for cardiovascular disease

    Science.gov (United States)

    Diet is an essential strategy for the prevention of primary and secondary cardiovascular disease (CVD) events. The objectives were to examine: how families at increased risk of CVD perceived personal risk, their motivations to make dietary changes, their understanding of diet, and the influence of o...

  17. Family health history communication networks of older adults: importance of social relationships and disease perceptions.

    Science.gov (United States)

    Ashida, Sato; Kaphingst, Kimberly A; Goodman, Melody; Schafer, Ellen J

    2013-10-01

    Older individuals play a critical role in disseminating family health history (FHH) information that can facilitate disease prevention among younger family members. This study evaluated the characteristics of older adults and their familial networks associated with two types of communication (have shared and intend to share new FHH information with family members) to inform public health efforts to facilitate FHH dissemination. Information on 970 social network members enumerated by 99 seniors (aged 57 years and older) at 3 senior centers in Memphis, Tennessee, through face-to-face interviews was analyzed. Participants shared FHH information with 27.5% of the network members; 54.7% of children and 24.4% of siblings. Two-level logistic regression models showed that participants had shared FHH with those to whom they provided emotional support (odds ratio [OR] = 1.836) and felt close to (OR = 1.757). Network-members were more likely to have received FHH from participants with a cancer diagnosis (OR = 2.617) and higher familiarity with (OR = 1.380) and importance of sharing FHH with family (OR = 1.474). Participants intended to share new FHH with those who provide tangible support to (OR = 1.804) and were very close to them (OR = 2.112). Members with whom participants intend to share new FHH were more likely to belong to the network of participants with higher perceived severity if family members encountered heart disease (OR = 1.329). Many first-degree relatives were not informed of FHH. Perceptions about FHH and disease risk as well as quality of social relationships may play roles in whether seniors communicate FHH with their families. Future studies may consider influencing these perceptions and relationships.

  18. Addison's Disease Mimicking as Acute Pancreatitis: A Case Report.

    Science.gov (United States)

    Chaudhuri, Sayani; Rao, Karthik N; Patil, Navin; Ommurugan, Balaji; Varghese, George

    2017-04-01

    Over past two decades there has been significant improvement in medical field in elucidating the underlying pathophysiology and genetics of Addison's disease. Adrenal insufficiency (Addison's disease) is a rare disease with an incidence of 0.8/100,000 cases. The diagnosis may be delayed if the clinical presentation mimics a gastrointestinal disorder or psychiatric illness. We report a case of Addison's disease presenting as acute pain in abdomen mimicking clinical presentation of acute pancreatitis.

  19. The Role of Family in a Dietary Risk Reduction Intervention for Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Tracy L. Schumacher

    2016-09-01

    Full Text Available Diet is an essential strategy for the prevention of primary and secondary cardiovascular disease (CVD events. The objectives were to examine: how families at increased risk of CVD perceived personal risk, their motivations to make dietary changes, their understanding of diet, and the influence of other family members. Individuals (>18 years who completed an Australian family-based CVD risk reduction program were invited to a semi-structured telephone interview. Responses were recorded, transcribed verbatim and analysed using a systematic deductive approach with coding derived from key concepts developed as part of the interview structure. Seventeen participants from eight families were interviewed (aged 18–70 years, 47% male, five with CVD diagnosis. Key themes indicated both intrinsic and extrinsic motivations to improve heart health, variations in risk perception, recognition of the role diet plays in heart health, and the extent of family influences on eating patterns. Discrepancies between perceived and actual CVD risk perception impacted on perceived “need” to modify current dietary patterns towards heart health recommendations. Therefore, strategies not reliant on risk perception are needed to engage those with low risk perception. This could involve identifying and accessing the family “ringleader” to influence involvement and capitalising on personal accountability to other family members.

  20. The Role of Family in a Dietary Risk Reduction Intervention for Cardiovascular Disease.

    Science.gov (United States)

    Schumacher, Tracy L; Burrows, Tracy L; Thompson, Deborah I; Callister, Robin; Spratt, Neil J; Collins, Clare E

    2016-09-30

    Diet is an essential strategy for the prevention of primary and secondary cardiovascular disease (CVD) events. The objectives were to examine: how families at increased risk of CVD perceived personal risk, their motivations to make dietary changes, their understanding of diet, and the influence of other family members. Individuals (>18 years) who completed an Australian family-based CVD risk reduction program were invited to a semi-structured telephone interview. Responses were recorded, transcribed verbatim and analysed using a systematic deductive approach with coding derived from key concepts developed as part of the interview structure. Seventeen participants from eight families were interviewed (aged 18-70 years, 47% male, five with CVD diagnosis). Key themes indicated both intrinsic and extrinsic motivations to improve heart health, variations in risk perception, recognition of the role diet plays in heart health, and the extent of family influences on eating patterns. Discrepancies between perceived and actual CVD risk perception impacted on perceived "need" to modify current dietary patterns towards heart health recommendations. Therefore, strategies not reliant on risk perception are needed to engage those with low risk perception. This could involve identifying and accessing the family "ringleader" to influence involvement and capitalising on personal accountability to other family members.

  1. Association between family risk of stroke and myocardial infarction with prevalent risk factors and coexisting diseases.

    Science.gov (United States)

    Kennedy, Richard E; Howard, George; Go, Rodney C; Rothwell, Peter M; Tiwari, Hemant K; Feng, Rui; McClure, Leslie A; Prineas, Ronald J; Banerjee, Amitava; Arnett, Donna K

    2012-04-01

    Familial transmission of stroke and myocardial infarction (MI) is partially mediated by transmission of cerebrovascular and cardiovascular risk factors. We examined relationships between family risk of stroke and MI with risk factors for these phenotypes. A cross-sectional association between the stratified log-rank family score for stroke and MI with prevalent risk factors was assessed in the REasons for Geographic And Racial Differences in Stroke (REGARDS) cohort. Individuals in the fourth quartile of stratified log-rank family scores for stroke were more likely to have prevalent risk factors including hypertension (OR, 1.43; 95% CI, 1.30-1.58), left ventricular hypertrophy (OR, 1.42; 95% CI, 1.16-1.42), diabetes (OR, 1.26; 95% CI, 1.12-1.43), and atrial fibrillation (OR, 1.23; 95% CI, 1.03-1.45) compared with individuals in the first quartile. Likewise, individuals in the fourth quartile of stratified log-rank family scores for MI were more likely to have prevalent risk factors including hypertension (OR, 1.57; 95% CI, 1.27-1.94) and diabetes (OR, 1.29; 95% CI, 1.12-1.43) than the first quartile. In contrast to stroke, the family risk score for MI was associated with dyslipidemia (OR, 1.38; 95% CI, 1.23-1.55) and overweight/obesity (OR, 1.22; 95% CI, 1.10-1.37). Family risk of stroke and MI is strongly associated with the majority of risk factors associated with each disease. Family history and genetic studies separating nonspecific contributions of intermediate phenotypes from specific contributions to the disease phenotype may lead to a more thorough understanding of transmission for these complex disorders.

  2. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

    Science.gov (United States)

    Vouk, Katja; Strmecki, Lana; Stekrova, Jitka; Reiterova, Jana; Bidovec, Matjaz; Hudler, Petra; Kenig, Anton; Jereb, Simona; Zupanic-Pajnic, Irena; Balazic, Joze; Haarpaintner, Guido; Leskovar, Bostjan; Adamlje, Anton; Skoflic, Antun; Dovc, Reina; Hojs, Radovan; Komel, Radovan

    2006-01-01

    Background Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis. Methods We collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2) and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423). Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 . Results Lod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed). We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2. Conclusion In our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course. PMID:16430766

  3. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease

    Directory of Open Access Journals (Sweden)

    Adamlje Anton

    2006-01-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of sufficient number of family members are available, it is worthwhile to assign the gene involved in disease progression by the genetic linkage analysis. Methods We collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2 and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423. Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 . Results Lod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed. We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2. Conclusion In our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course.

  4. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  5. FAMILY HISTORY OF DISEASE AS A RISK FACTOR OF ACUTE MYOCARDIAL INFARCTION

    Directory of Open Access Journals (Sweden)

    Zoran Velickovic

    2006-10-01

    Full Text Available Myocardial infarction (MI is a complex disease that begins with a lifelong interaction between genetics and environmental factors. The aim of the study was to identify family history as a risk factor of myocardial infarction in examined population in the Municipality of Nis.We used a case-control study with 100 patients with a first MI (in the period 1998-2000 and 100 controls, matched with respect to sex and age (± 2 years from the Municipality of Nis.Data was obtained from the epidemiological questionnaire. The Yates c2 test, odds ratio-OR and their 99% interval of confident were used as statistical procedures.The results showed that statistical significance for MI was present among all three degrees of relatives of subjects who have had an acute MI, and for hypertension, hypercholesterolemia and stroke among first and second - degree relatives. The subjects with family history of hypercholesterolemia had 12.43 times higher risk of disease (p = 0,000 and in the case of family history of MI before the age of 55, the risk was almost 10 times (p = 0,000 higher. Almost 4 times higher risk of disease was registered in subjects with family history of hypertension (p < 0,00001 and stroke (before 65 years of age - (p < 00005; a two-fold higher risk was registered in subjects with diagnoses of diabetes (p < 0,05 and other cardiovascular diseases (unless hypertension (p < 0,01 in the nearest relatives before the age of 55.We concluded that family history of diseases on the sample of the Municipality of Nis inhabitants was very important risk factor, mostly in the first-degree relatives. Genetic epidemiology is the future for all investigations between different population, and special attention should be paid to investigations and findings of different genes and loci which are very important for myocardial infarction occurrence, which would allow a new approach to preventive medicine.

  6. An oral ulceration associated with Morgellons disease: a case report.

    Science.gov (United States)

    Grosskopf, Courtney; Desai, Bhavik; Stoopler, Eric T

    2011-08-01

    Morgellons disease is a psycho-dermatologic condition in which patients report fibers or filaments "growing" out of their skin. This case report highlights an oral ulceration in a young woman associated with Morgellons disease, a condition that has not been previously described in the dental literature. An increasing number of individuals are self-reporting this condition and oral health care providers must be familiar with this disorder. Copyright © 2011 Mosby, Inc. All rights reserved.

  7. Mutilocus genetic determinants of LDL particle size in coronary artery disease families

    Energy Technology Data Exchange (ETDEWEB)

    Rotter, J.I.; Bu, X.; Cantor, R.M. [and others

    1996-03-01

    Recent interest in atherosclerosis has focused on the genetic determinants of low-density lipoprotein (LDL) particle size, because of (1) the association of small dense LDL particles with a three-fold increased risk for coronary artery disease (CAD) and (2) the recent report of linkage of the trait to the LDL receptor (chromosome 19). By utilizing nonparametric quantitative sib-pair and relative-pair-analysis methods in CAD families, we tested for linkage of a gene or genes controlling LDL particle sizes with the genetic loci for the major apolipoproteins and enzymes participating in lipoprotein metabolism. We confirmed evidence for linkage to the LDL receptor locus (P = .008). For six candidate gene loci, including apolipoprotein(apo)B, apoAII, apo(a), apoE-CI-CII, lipoprotein lipase, and high-density lipoprotein-binding protein, no evidence for linkage was observed by sib-pair linkage analyses (P values ranged from .24 to .81). However, in addition, we did find tentative evidence for linkage with the apoAI-CIII-AIV locus (chromosome 11) (P = .06) and significant evidence for linkage of the cholesteryl ester transfer protein locus (chromosome 16) (P = .01) and the manganese superoxide dismutase locus (chromosome 6) (P = .001), thus indicating multilocus determination of this atherogenic trait. 73 refs., 3 figs., 4 tabs.

  8. Protocol for a randomized controlled trial testing the impact of feedback on familial risk of chronic diseases on family-level intentions to participate in preventive lifestyle behaviors.

    Science.gov (United States)

    Wilson, Carlene J; de la Haye, Kayla; Coveney, John; Hughes, Donna L; Hutchinson, Amanda; Miller, Caroline; Prichard, Ivanka; Ward, Paul; Koehly, Laura M

    2016-09-13

    Common disease risk clusters in families due to shared genetics, exposure to environmental risk factors, and because many health behaviours are established and maintained in family environments. This randomised controlled trial will test whether the provision of a family health history (FHH) risk assessment tool increases intentions and engagement in health behaviors. Message distribution and collective behavior change within family networks will be mapped using social network analysis. The relative intervention impact will be compared between families from different ethnic backgrounds. One hundred and fifty mothers (50 Anglo-Australian, 50 Italian-Australian, 50 Vietnamese-Australian) will be recruited, with four or more other family members across three generations, including a child (aged 10-18 years). Each family is randomly assigned to intervention or control. At baseline and 6-month follow-up, all participants complete surveys to assess dietary and physical activity intentions and behaviors, attitudes towards food, and perceived disease risk. Intervention families receive a visual pedigree detailing their FHH of diabetes, heart disease, breast and bowel cancer, a health education workbook to ascertain members' disease risk (i.e. average or above average risk), and screening and primary prevention recommendations. After completion of follow-up assessments, controls will receive their pedigree and workbook. The primary hypothesis is that attitudes and lifestyle behaviors will improve more within families exposed to FHH feedback, although the extent of this improvement may vary between families from different ethnic backgrounds. Additionally, the extent of improvement in the treatment group will be moderated by the level of family disease risk, with above-average risk leading to greater improvement. A secondary aim will explore different family members' roles in message distribution and collective responses to risk using social network approaches and to compare

  9. Communication and Huntington's Disease: Qualitative Interviews and Focus Groups with Persons with Huntington's Disease, Family Members, and Carers

    Science.gov (United States)

    Hartelius, Lena; Jonsson, Maria; Rickeberg, Anneli; Laakso, Katja

    2010-01-01

    Background: As an effect of the cognitive, emotional and motor symptoms associated with Huntington's disease, communicative interaction is often dramatically changed. No study has previously included the subjective reports on this subject from individuals with Huntington's disease. Aims: To explore the qualitative aspects of how communication is…

  10. Creutzfeldt-Jacob disease: a case report.

    Directory of Open Access Journals (Sweden)

    Payam Sarraf

    2014-06-01

    Full Text Available Creutzfeldt-Jacob Disease is a prion disease which has a wide range of clinical presentations. Its diagnosis is not simple and clinical manifestation along with EEG, MR imaging findings and cerebrospinal fluid (CSF analysis should be considered for a definite diagnosis. A-50-year-old woman referred with cognitive impairment, myoclonic jerks, mutism and difficulty in swallowing to our clinic. EEG (Electroencephalography results showed bilaterally periodic sharp and slow-wave discharges. Protein 14-3-3 in CSF was detected. Magnetic resonance imaging (MRI findings revealed hyperintensity of the caudate and putamen in diffusion-weighted imaging (DWI, T2 Weighted (T2W sequences and Fluid-attenuated inversion-recovery (FLAIR images. Patients who have progressive dementia should be evaluated by means of MR imaging and CSF analysis for CJD specific proteins should be considered.

  11. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases.

    Science.gov (United States)

    Burson, C M; Markey, K R

    2001-09-01

    Genetic counseling is important in any genetic testing situation in order to address the various issues related to obtaining a genetic diagnosis. Presymptomatic testing for adult-onset neurodegenerative disease, in particular, presents a complex counseling scenario. It is imperative to discuss the potential impact of test results on patients' family dynamics, insurability and employability, family planning, and future health in addition to ascertaining a complete understanding of recurrence, inheritance, and testing parameters. The Huntington disease presymptomatic testing protocol is well-defined and has been used for more than 10 years. These guidelines, which protect both patient and provider, can now be applied to other diseases as further presymptomatic testing capabilities are realized.

  12. Glycoform-selective prion formation in sporadic and familial forms of prion disease.

    Directory of Open Access Journals (Sweden)

    Xiangzhu Xiao

    Full Text Available The four glycoforms of the cellular prion protein (PrP(C variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc in the recently identified variably protease-sensitive prionopathy (VPSPr is the absence of a diglycosylated form, also notable in familial Creutzfeldt-Jakob disease (fCJD, which is linked to mutations in PrP either from Val to Ile at residue 180 (fCJD(V180I or from Thr to Ala at residue 183 (fCJD(T183A. Here we report that fCJD(V180I, but not fCJD(T183A, exhibits a proteinase K (PK-resistant PrP (PrP(res that is markedly similar to that observed in VPSPr, which exhibits a five-step ladder-like electrophoretic profile, a molecular hallmark of VPSPr. Remarkably, the absence of the diglycosylated PrP(res species in both fCJD(V180I and VPSPr is likewise attributable to the absence of PrP(res glycosylated at the first N-linked glycosylation site at residue 181, as in fCJD(T183A. In contrast to fCJD(T183A, both VPSPr and fCJD(V180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181 PrP prior to PK-treatment. Furthermore, PrP(V180I with a typical glycoform profile from cultured cells generates detectable PrP(res that also contains the diglycosylated PrP in addition to mono- and unglycosylated forms upon PK-treatment. Taken together, our current in vivo and in vitro studies indicate that sporadic VPSPr and familial CJD(V180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrP(C to PrP(Sc is inhibited, probably by a dominant-negative effect, or by other co-factors.

  13. [A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism].

    Science.gov (United States)

    Marui, Wami; Iseki, Eizo; Sugiyama, Naoya; Matsumura, Takehiko; Suzuki, Kyoko; Odawara, Toshinari; Hino, Hiroaki; Kosaka, Kenji

    2003-04-01

    We previously reported a Japanese family with early-onset familial Alzheimer's disease associated with G 209 R presenilin 1(PS 1) mutation. There have been six patients across three generations in this family. In the present report, we described the clinical course, findings with neuroimaging and results of genetic examination of PS 1 and apolipoprotein E(ApoE) in three of six patients(II-1, III-1 and 2). The clinical course was common to all three patients. Memory disturbance, disorientation, amnestic aphasia, personality changes and perseveration appeared at early stages, whereas Gerstmann's syndrome, myoclonus and general convulsion were recognized at advanced stages. CT disclosed mild brain atrophy in the temporal lobes at early stages and diffuse brain atrophy predominantly in the fronto--temporal lobes at advanced stages. SPECT exhibited hypoperfusion in the fronto-temporal areas at early stages and hypoperfusion in the fronto-temporal and parieto-occipital areas at advanced stages. The age of onset in six patients demonstrated two clusters at age 53-55(I-1, II-1, 2 and 5) and age 46-48(III-1 and 2). PS 1 genotyping demonstrated that the heterozygous exonic missense mutation G 209 R was confirmed in all three patients. Regarding the ApoE genotyping, II-1(mother) was epsilon 3/epsilon 3, whereas III-1 and 2(children) were epsilon 3/epsilon 4. These findings suggest the possibility that there might be a gene dose effect, since the age of onset ranged from 5 to 7 years younger in patients who received epsilon 4 alleles from the father.

  14. Expressional and Biochemical Characterization of Rice Disease Resistance Gene Xa3/Xa26 Family

    Institute of Scientific and Technical Information of China (English)

    Songjie Xu; Yinglong Cao; Xianghua Li; Shiping Wang

    2007-01-01

    The rice (Oryza sativa L.) Xa3/Xa26 gene, conferring race-specific resistance to bacterial blight disease and encoding a leucine-rich repeat (LRR) receptor kinase-like protein, belongs to a multigene family consisting of tandem clustered homologous genes, colocalizing with several uncharacterized genes for resistance to bacterial blight or fungal blast. To provide more information on the expressional and biochemical characteristics of the Xa3/Xa26 family, we analyzed the family members. Four Xa3/Xa26 family members in the indica rice variety Teqing, which carries a bacterial blight resistance gene with a chromosomal location tightly linked to Xa3/Xa26, and five Xa3/Xa26 family members in the japonica rice variety Nipponbare, which carries at least one uncharacterized blast resistance gene, were constitutively expressed in leaf tissue. The result suggests that some of the family members may be candidates of these uncharacterized resistance genes. At least five putative N-glycosylation sites in the LRR domain of XA3/XA26 protein are not glycosylated. The XA3/XA26 and its family members MRKa and MRKc all possess the consensus sequences of paired cysteines, which putatively function in dimerization of the receptor proteins for signal transduction, immediately before the first LRR and immediately after the last LRR. However, no homo-dimer between the XA3/XA26 molecules or hetero-dimer between XA3/XA26 and MRKa or MRKc were formed, indicating that XA3/XA26 protein might function either as a monomer or a hetero-dimer formed with other protein outside of the XA3/XA26 family. These results provide valuable information for further extensive investigation into this multiple protein family.

  15. Undifferentiated seronegative spondyloarthritis with inflammatory bowel disease and a family history of psoriasis. Sicca syndrome

    Directory of Open Access Journals (Sweden)

    Norma Marigliano

    2013-04-01

    Full Text Available Background: Seronegative spondyloarthritis is characterized by the presence of subcutaneous nodules, asymmetrical peripheral arthritis, sacroileitis with or without spondylitis, and rheumatoid-factor negativity. Other common clinical manifestations include oral ulcers, conjunctivitis, and cutaneous lesions such as psoriasis. Familial aggregation has also been described. According to the 1986 classification, corresponding clinical entities include ankylosing spondylitis, psoriatic arthritis, Reiter’s syndrome, arthritis associated with inflammatory bowel disease (IBD, and undifferentiated spondyloarthritis. The disease is also frequently associated with the HLA B27 antigen. From the clinical point of view, there are often incomplete forms of spondyloarthritis, such as reactive arthritis triggered by asymptomatic infections, psoriatic arthritis without psoriasis itself, initial phases of specific forms of spondyloarthritis or the phase of ankylosing spondylitis characterized by sacroiliac lesions, and all forms that remain undifferentiated for long periods of time. Moreover, there are close relations between arthropathy and IBDs, such as Crohn’s disease, ulcerative colitis, and Whipple’s syndrome. Recently, microscopic inflammatory bowel lesions and psoriatic arthritis have been described. Case report: A 30-year-old man (HLA B27-negative who had been vaccinated against TBC and HBV presented with a 6-year history of recurrent episodes of predominantly left-sided sciatica. The pain was worse at night and during rest. He was suffering from bilateral sacroileitis without spondylitis. Three to five times a day, usually after eating, he passed watery feces containing mucous and small amounts of bright red blood. Colonoscopy revealed pancolitis with histological evidence of chronic inflammation interspersed with areas of acute inflammation, edema, hyperemia, and glandular distortion. One year later, the clinical manifestations and histological

  16. Kikuchi's disease (histiocytic necrotizing lymphadenitis): report of one case.

    Science.gov (United States)

    Lien, C H; Yang, W; Tsai, Y C; Huang, P H

    1999-01-01

    Kikuchi's disease (histiocytic necrotizing lymphadenitis) is a self-limited disease of unknown cause. The disease often presents with persistently intermittent fever and enlarged cervical lymph nodes. It usually occurs in adult group and is unresponsive to antibiotic therapy. The diagnosis can be confirmed by histopathological findings of lymph node in open biopsy. We report a pediatric case of Kikuchi's disease in an 8-year-8-month-old school-age boy with generalized lymphadenopathy. He was hospitalized under the impression of fever of unknown origin. A diagnosis of Kikuchi's disease was made by cervical lymph node histology. Reviewing the literature of Kikuchi's disease, we found very few reports in young pediatric group. We conclude that Kikuchi's disease should be considered in the differential diagnosis of fever of unknown origin in children, even in the absence of cervical lymphadenopathy.

  17. Hereditary Nonsyndromic Gingival Fibromatosis: Report of Family Case Series

    Directory of Open Access Journals (Sweden)

    Syed Wali Peeran

    2013-01-01

    Full Text Available Hereditary gingival fibromatosis (HGF is a rare, benign disorder with slowly progressive enlargement of maxillary and mandibular gingiva. Herewith, we report the first case series of HGF presenting among mother and all of her 3 children. Their complaints included unaesthetic appearance due to gingival growth, malocclusion, and difficulty in mastication. Conventional gingivectomy with oral hygiene measures and regular followup is the treatment of choice for such presentation.

  18. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

    Science.gov (United States)

    Hyun, Young Se; Lee, Jinho; Kim, Hye Jin; Hong, Young Bin; Koo, Heasoo; Smith, Alec S T; Kim, Deok-Ho; Choi, Byung-Ok; Chung, Ki Wha

    2015-11-01

    Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating subtype of peripheral enuropathies caused by mutations in the FGD4 gene. Most CMT4H patients are in consanguineous Mediterranean families characterized by early onset and slow progression. We identified two CMT4H patients from a Korean CMT cohort, and performed a detailed genetic and clinical analysis in both cases. Both patients from nonconsanguineous families showed characteristic clinical manifestations of CMT4H including early onset, scoliosis, areflexia, and slow disease progression. Exome sequencing revealed novel compound heterozygous mutations in FGD4 as the underlying cause in both families (p.Arg468Gln and c.1512-2A>C in FC73, p.Met345Thr and c.2043+1G>A (p.Trp663Trpfs*30) in FC646). The missense mutations were located in highly conserved RhoGEF and PH domains which were predicted to be pathogenic in nature by in silico modeling. The CMT4H occurrence frequency was calculated to 0.7% in the Korean demyelinating CMT patients. This study is the first report of CMT4H in Korea. FGD4 assay could be considered as a means of molecular diagnosis for sporadic cases of demyelinating CMT with slow progression. © 2015 John Wiley & Sons Ltd/University College London.

  19. Huntington CAG repeat size does not modify onset age in familial Parkinson’s disease: The GenePD Study

    Science.gov (United States)

    McNicoll, Christopher F.; Latourelle, Jeanne C.; MacDonald, Marcy E.; Lew, Mark F.; Suchowersky, Oksana; Klein, Christine; Golbe, Lawrence I.; Mark, Margery H.; Growdon, John H.; Wooten, G. Frederick; Watts, Ray L.; Guttman, Mark; Racette, Brad A.; Perlmutter, Joel S.; Ahmed, Anwar; Shill, Holly A.; Singer, Carlos; Saint-Hilaire, Marie H.; Massood, Tiffany; Huskey, Karen W.; DeStefano, Anita L.; Gillis, Tammy; Mysore, Jayalakshmi; Goldwurm, Stefano; Pezzoli, Gianni; Baker, Kenneth B.; Itin, Ilia; Litvan, Irene; Nicholson, Garth; Corbett, Alastair; Nance, Martha; Drasby, Edward; Isaacson, Stuart; Burn, David J.; Chinnery, Patrick F.; Pramstaller, Peter P.; Al-hinti, Jomana; Moller, Anette T.; Ostergaard, Karen; Sherman, Scott J.; Roxburgh, Richard; Snow, Barry; Slevin, John T.; Cambi, Franca; Gusella, James F.; Myers, Richard H.

    2009-01-01

    The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson’s disease (PD) and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n=495) with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range 15 to 34) below the clinical range for HD, although 5.2 percent of the sample (n=25) had repeats in the intermediate range (the intermediate range lower limit=27; upper limit=35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. PMID:18649400

  20. Burden and associated pathologies in family caregivers of Alzheimer’s disease patients in Spain.

    Directory of Open Access Journals (Sweden)

    Vérez Cotelo N

    2015-06-01

    Full Text Available Objectives: To evaluate the profile of family caregivers of Alzheimer´s disease patients, identify any signs of psychopathology, quantify the level of perceived burden on the caregiver, and determine the caregiver’s relationship with their pharmacist. Methods: A cross-sectional study was conducted at a community pharmacy in Pontevedra, Spain. Demographic variables were collected, and the following questionnaires were administered: the Beck Depression Inventory-II, STAI-Anxiety Questionnaire, Zarit Burden Scale, family APGAR scale, and the Duke-UNC questionnaire. Results: The typical caregiver profile consists of a 55-year old first degree relative (mostly daughters with a primary education who belongs to a functional or mildly dysfunctional family. Nearly one quarter (24% of caregivers had a high perception of burden, with anxiety in 20% of caregivers and symptoms of depression in 20%. Family caregivers usually went to the same pharmacy as the patients (96%, were treated with psychotropic drugs (68%, and interacted with the pharmacist (92%. Conclusion: This study confirmed that psychological distress and burden is present among family caregivers. Care for caregivers should be integrated into patient care as part of a national plan, including grants and subsidies, which will result in better care of Alzheimer's patients. Pharmacists are the most accessible health care professionals and can provide information about Alzheimer's disease management to caregivers to ease the burden of care.

  1. Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.

    Science.gov (United States)

    Clarimon, Jordi; Johnson, Janel; Dogu, Okan; Horta, Wagner; Khan, Naheed; Lees, Andrew J; Hardy, John; Singleton, Andrew

    2005-02-05

    Autosomal recessive juvenile parkinsonism (AR-JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature. Mutations in Parkin are a relatively common cause of AR-JP and are estimated to be present in approximately 30% of familial young onset Parkinson disease (PD) [Abbas et al. (1999); Hum Mol Genet 8:567-574]. These mutations include exon rearrangements (deletions and duplications), point mutations, and small deletions. Similar genomic mutations have been described in unrelated patients, thereby indicating independent mutational events or ancient founder effects. We have identified homozygous deletion mutations of exon 4 in Parkin in two unrelated families, one from Brazil and the other from Turkey [Dogu et al. (2004); Mov Dis 9:812-816; Khan et al., Mov Dis, in press]. We have performed molecular analysis of the deletion breakpoints and this data indicates these mutations originated independently. We present here data demonstrating that the mutation responsible for disease in the Brazilian kindred consists of two separate deletions (1,069 and 1,750 bp) surrounding and including exon 4. The deletion removing parkin exon 4 identified in the Turkish family extended 156,203 bp. In addition to demonstrating that disease in these families is not caused by a single founder mutation, these data show that there is no common fragile site between these mutational events.

  2. Review of Infectious Disease Report in Great Britain

    Directory of Open Access Journals (Sweden)

    V.D. Sorokhan

    2015-04-01

    Full Text Available The article deals with an analysis of infectious disease report in Great Britain that is a member of the European Union. There are listed the infectious diseases and infectious agents of these diseases. There are described in detail how to fill the notification form and the methods and terms of sending it to Public Health England. Attention is focused on the importance of the analysis of infectious disease report in the European Union in the light of cooperation between Ukraine and the EU after the economic component of the Association Agreement has been signed.

  3. CDC Periodontal Disease Surveillance Project: background, objectives, and progress report.

    Science.gov (United States)

    Eke, Paul I; Genco, Robert J

    2007-07-01

    This supplement contains papers presented at the 2006 International Association of Dental Research (IADR) symposium entitled "Development of Self-Reported Measures for Population-Based Surveillance of Periodontitis." These papers highlight activities of an independent periodontal disease surveillance workgroup convened by the Division of Oral Health (DOH), Centers for Disease Control and Prevention (CDC), in collaboration with the American Academy of Periodontology, to examine the feasibility of using self-reported measures for population-based surveillance of periodontal disease in the United States. This workgroup was convened in 2003 as part of a CDC periodontal disease surveillance project.

  4. Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

    Directory of Open Access Journals (Sweden)

    Chih-Fan Tseng

    2009-12-01

    Full Text Available We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This is the first case report describing an association between congenital generalized lipodystrophy and Lafora disease. Further studies focusing on the relationship between these two diseases and the identification of a third locus for Lafora disease are needed.

  5. Cochlear involvement in Familial Mediterranean Fever: a new feature of an old disease.

    Science.gov (United States)

    Koybasi, Serap; Atasoy, Halil İbrahim; Bicer, Yusuf Ozgur; Tug, Esra

    2012-02-01

    In this study we first aimed to assess the cochlear functions in children with Familial Mediterranean Fever. The second aim was to investigate the correlation between the hearing levels and some clinical features of Familial Mediterranean Fever including the duration of the disease, age at onset, genetic analysis and colchicine use. Thirty-four children with Familial Mediterranean Fever and 27 age matched children were included in the study. Following otologic examination, all children underwent audiometric evaluation, including Pure Tone Average measurements and Distortion Product Otoaoustic Emission testing. Audiological results of the two groups were compared and correlation between the audiologic status and clinical parameters of the disease like the duration of disease, age at onset, mutations and colchicine treatment were studied. Pure tone audiometry hearing levels were within normal levels in both groups. Hearing thresholds of Familial Mediterranean Fever patients were found to be increased at frequencies 8000, 10,000, 12,500 and 16,000 (pFamilial Mediterranean Fever (F value=2.034; p=0.033). To our knowledge this is the first study demonstrating cochlear involvement in children with Familial Mediterranean Fever which showed increased hearing thresholds at higher frequencies in audiometry together with decreased distortion products and signal-noise ratios demonstrated by distortion product otoacoustic emission testing. Similar studies must be carried out on adult patients to see if a clinical hearing impairment develops. The possible mechanisms that cause cochlear involvement and the effect of colchicine treatment on cochlear functions must be enlightened. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  6. Mondor's disease in puerperium: case report

    OpenAIRE

    Pinto,Rita Mesquita; Manso,Pedro; Urzal,Cecília; Batista, Joana; Aragão,Carlos; Vaz,Francisco Cortez

    2014-01-01

    Mondor's disease is a rare entity characterized by sclerosing thrombophlebitis classically involving one or more of the subcutaneous veins of the breast and anterior chest wall. It is usually a self-limited, benign condition, despite of rare cases of association to cancer. We present the case of a 32 year-old female, breast-feeding, who went to emergency due to left mastalgia for the past week. She was taking antibiotics and non-steroidal anti-inflammatory drugs, previously prescribed for sus...

  7. Kienböck disease, case report

    Directory of Open Access Journals (Sweden)

    Fanny Paola Ledezma-Martínez

    2013-09-01

    Full Text Available A case of Kienböck’s disease, defined as a rare clinical condition characterized by pain and limited movement of the radio-carpal joint restricting activities of daily living with impairment in social role and occupational. It is the physician who makes the diagnosis. When the patient is referred for functional rehabilitation, physiotherapist should perform the evaluation using the International Classification of Functioning, Disability and states of Health (ICF, in order to establish the more appropriate treatment plan to allow functionality of the hand.

  8. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Motley, William W; Palaima, Paulius; Yum, Sabrina W; Gonzalez, Michael A; Tao, Feifei; Wanschitz, Julia V; Strickland, Alleene V; Löscher, Wolfgang N; De Vriendt, Els; Koppi, Stefan; Medne, Livija; Janecke, Andreas R; Jordanova, Albena; Zuchner, Stephan; Scherer, Steven S

    2016-06-01

    We performed whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophysiological evidence of demyelinating neuropathy. We then screened a cohort of 136 European probands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an adjacent amino acid (p.Thr51Pro), which segregates with disease. Our genetic and clinical findings in these kindred demonstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

    OpenAIRE

    1991-01-01

    The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The presence of a PrP gene defect was confirmed in one and excluded in two. Despite the ...

  10. Feasibility of Recruiting Families into a Heart Disease Prevention Program Based on Dietary Patterns.

    Science.gov (United States)

    Schumacher, Tracy L; Burrows, Tracy L; Thompson, Deborah I; Spratt, Neil J; Callister, Robin; Collins, Clare E

    2015-08-21

    Offspring of parents with a history of cardiovascular disease (CVD) inherit a similar genetic profile and share diet and lifestyle behaviors. This study aimed to evaluate the feasibility of recruiting families at risk of CVD to a dietary prevention program, determine the changes in diet achieved, and program acceptability. Families were recruited into a pilot parallel group randomized controlled trial consisting of a three month evidence-based dietary intervention, based on the Mediterranean and Portfolio diets. Feasibility was assessed by recruitment and retention rates, change in diet by food frequency questionnaire, and program acceptability by qualitative interviews and program evaluation. Twenty one families were enrolled over 16 months, with fourteen families (n = 42 individuals) completing the study. Post-program dietary changes in the intervention group included small daily increases in vegetable serves (0.8 ± 1.3) and reduced usage of full-fat milk (-21%), cheese (-12%) and meat products (-17%). Qualitative interviews highlighted beneficial changes in food purchasing habits. Future studies need more effective methods of recruitment to engage families in the intervention. Once engaged, families made small incremental improvements in their diets. Evaluation indicated that feedback on diet and CVD risk factors, dietetic counselling and the resources provided were appropriate for a program of this type.

  11. Feasibility of Recruiting Families into a Heart Disease Prevention Program Based on Dietary Patterns

    Directory of Open Access Journals (Sweden)

    Tracy L. Schumacher

    2015-08-01

    Full Text Available Offspring of parents with a history of cardiovascular disease (CVD inherit a similar genetic profile and share diet and lifestyle behaviors. This study aimed to evaluate the feasibility of recruiting families at risk of CVD to a dietary prevention program, determine the changes in diet achieved, and program acceptability. Families were recruited into a pilot parallel group randomized controlled trial consisting of a three month evidence-based dietary intervention, based on the Mediterranean and Portfolio diets. Feasibility was assessed by recruitment and retention rates, change in diet by food frequency questionnaire, and program acceptability by qualitative interviews and program evaluation. Twenty one families were enrolled over 16 months, with fourteen families (n = 42 individuals completing the study. Post-program dietary changes in the intervention group included small daily increases in vegetable serves (0.8 ± 1.3 and reduced usage of full-fat milk (−21%, cheese (−12% and meat products (−17%. Qualitative interviews highlighted beneficial changes in food purchasing habits. Future studies need more effective methods of recruitment to engage families in the intervention. Once engaged, families made small incremental improvements in their diets. Evaluation indicated that feedback on diet and CVD risk factors, dietetic counselling and the resources provided were appropriate for a program of this type.

  12. Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

    Directory of Open Access Journals (Sweden)

    Victor Kosac

    2013-10-01

    Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

  13. Immune regulatory functions of DOCK family proteins in health and disease.

    Science.gov (United States)

    Nishikimi, Akihiko; Kukimoto-Niino, Mutsuko; Yokoyama, Shigeyuki; Fukui, Yoshinori

    2013-09-10

    DOCK proteins constitute a family of evolutionarily conserved guanine nucleotide exchange factors (GEFs) for Rho family of GTPases. Although DOCK family proteins do not contain the Dbl homology domain typically found in GEFs, they mediate the GTP-GDP exchange reaction through DHR-2 domain. Accumulating evidence indicates that the DOCK proteins act as major GEFs in varied biological settings. For example, DOCK2, which is predominantly expressed in hematopoietic cells, regulates migration and activation of leukocytes through Rac activation. On the other hand, it was recently reported that mutations of DOCK8, another member of the DOCK family proteins, cause a combined immunodeficiency syndrome in humans. This article reviews the structure, functions and signaling of DOCK2 and DOCK8, especially focusing on their roles in immune responses. © 2013 Elsevier Inc. All rights reserved.

  14. Familial aggregation of Alzheimer's disease and related disorders: A collaborative re-analysis of case-control studies

    NARCIS (Netherlands)

    C.M. van Duijn (Cock); D.G. Clayton (David); V. Chandra; L. Fratiglioni (Laura); A.B. Graves; A. Heyman; A.F. Jorm; E. Kokmen (Emre); K. Kondo; J.A. Mortimer; W.A. Rocca; S.L. Shalat; H. Soininen; A. Hofman (Albert)

    1991-01-01

    textabstractCase-control studies of Alzheimer's disease were re-analysed to examine the association of Alzheimer's disease with family history in first degree relatives of dementia, Down's syndrome and Parkinson's disease. Overall, the relative risk of Alzheimer's disease for those with at least one

  15. Familial aggregation of Alzheimer's disease and related disorders: A collaborative re-analysis of case-control studies

    NARCIS (Netherlands)

    C.M. van Duijn (Cock); D.G. Clayton (David); V. Chandra; L. Fratiglioni (Laura); A.B. Graves; A. Heyman; A.F. Jorm; E. Kokmen (Emre); K. Kondo; J.A. Mortimer; W.A. Rocca; S.L. Shalat; H. Soininen; A. Hofman (Albert)

    1991-01-01

    textabstractCase-control studies of Alzheimer's disease were re-analysed to examine the association of Alzheimer's disease with family history in first degree relatives of dementia, Down's syndrome and Parkinson's disease. Overall, the relative risk of Alzheimer's disease for those with at least one

  16. Differential effects of wine consumption on colorectal cancer outcomes based on family history of the disease.

    Science.gov (United States)

    Zell, Jason A; McEligot, Archana J; Ziogas, Argyrios; Holcombe, Randall F; Anton-Culver, Hoda

    2007-01-01

    Potentially favorable effects of wine consumption on colorectal cancer (CRC) incidence have been reported, but effects on clinical outcomes are unknown. This case-only analysis was designed to investigate outcomes among familial (n = 141) and sporadic (n = 358) CRC patients enrolled in the University of California Irvine CRC gene-environment study during 1994-1996 based on their reported frequency of wine consumption in the year prior to diagnosis. Cases were categorized as either regular or infrequent wine consumers. Univariate survival rate analyses were estimated using the Kaplan and Meier method and log-rank test. Multivariate survival analyses were performed using Cox proportional hazards ratios (HRs). Earlier stage at presentation (P = 0.034) was noted for familial (but not sporadic) CRC cases reporting regular wine consumption. An overall survival (OS) benefit was observed for familial (but not sporadic) CRC cases that were regular (10-yr OS = 75%) versus infrequent wine consumers (10-yr OS = 47%; P = 0.002). This survival improvement for familial CRC cases remained after adjustment for age, stage, treatment, and other clinically relevant factors (HR = 0.50, 95% confidence interval = 0.25-0.99). Our findings implicate favorable effects of wine consumption on stage at presentation and survival in CRC, selectively among familial CRC cases.

  17. Infantile Onset Glycogen Storage Disease Type 2: Case Report

    Directory of Open Access Journals (Sweden)

    Serkan Bilge Koca

    2014-08-01

    Full Text Available Glycogen storage disease type 2 (Pompe’s disease is an autosomal recessive, fatal glycogen storage disease presenting with hypotonia and muscle weakness. It is known that deficiency of lysosomal acid alpha-glucosidase (acid maltase leads to progressive generalised myopathy, cardiomyopathy and death in early infancy because of respiratory muscle weakness. Excessive undegradable intracellular glycogen deposition plays a role in the pathogenesis of the disease. Here we report a 3.5 month-old girl presenting with respiratory failure due to pneumonia and hypotonia, who was later diagnosed as Pompe disease.

  18. Family predictors of disease management over one year in Latino and European American patients with type 2 diabetes.

    Science.gov (United States)

    Chesla, Catherine A; Fisher, Lawrence; Skaff, Marilyn M; Mullan, Joseph T; Gilliss, Catherine L; Kanter, Richard

    2003-01-01

    Family context is thought to influence chronic disease management but few studies have longitudinally examined these relationships. Research on families and chronic illness has focused almost exclusively on European American families. In this prospective study we tested a multidimensional model of family influence on disease management in type 2 diabetes in a bi-ethnic sample of European Americans and Latinos. Specifically, we tested how baseline family characteristics (structure, world view, and emotion management) predicted change in disease management over one year in 104 European American and 57 Latino patients with type 2 diabetes. We found that emotion management predicted change in disease management in both groups of patients as hypothesized, while family world view predicted change in both ethnic groups but in the predicted direction only for European Americans. Examining family context within ethnic groups is required to elucidate unique cultural patterns. Attending to culturally unique interpretations of constructs and measures is warranted. The import of family emotion management, specifically conflict resolution, in disease management deserves further study to support clinical intervention development. Examining multiple domains of family life and multidimensional health outcomes strengthens our capacity to develop theory about family contexts and individual health.

  19. Familial Aggregation of Non-Hodgkin's Lymphoma (NHL. A Case Report

    Directory of Open Access Journals (Sweden)

    Loves Sandra SCM

    2006-08-01

    Full Text Available Abstract A family is reported in which three male siblings of Asian descent developed non-Hodgkin's lymphoma (NHL. Case 1 was diagnosed with indolent follicular lymphoma stage IIIA at age 45. Case 2 presented with large B-cell lymphoma stage IIB at age 56. Chromosomal investigation of the peripheral blood did not show abnormalities. Chemotherapy induced a complete remission. However, after a period of nearly ten years he developed acute myeloid leukaemia. Case 3 developed large B-cell lymphoma stage IVA at age 52. Cytogenetic analysis in peripheral blood was normal. Shared genetic and environmental risk factors remain to be identified in this family. Familial aggregation of NHL is uncommon. In some families, various forms of immunodeficiency have been found. In addition to coincidental clustering of cases, and rare cases explained by known tumour syndromes such as Li-Fraumeni (like syndrome, other familial cases may share as yet unknown genetic and/or environmental risk factors.

  20. Familial dysfibrinogenemia and thrombophilia - Report on a study of the SSC subcommittee on fibrinogen

    NARCIS (Netherlands)

    Haverkate, F.; Samama, M.

    1995-01-01

    Approximately 250 cases of dysfibrinogenemia have been reported; 55% were asymptomatic (detected by chance), 25% had a tendency to bleeding, and 20% were reported to have a tendency to thrombosis. To establish a possible association between familial dysfibrinogenemia and thrombophilia, data on cases

  1. Family support and weight-loss strategies among adolescents reporting sustained weight loss.

    Science.gov (United States)

    Utter, Jennifer; Denny, Simon; Dixon, Robyn; Ameratunga, Shanthi; Teevale, Tasileta

    2013-03-01

    The current research aims to describe the weight-control strategies and family support for young people reporting sustained weight loss in a large, population-based sample. Data were collected as part of Youth'07, a nationally representative survey of the health and well-being of New Zealand youth. New Zealand secondary schools, 2007. Secondary-school students (n 9107). Among young people who attempted weight loss in the previous year, 51% reported long-term weight loss (lost weight and maintained weight loss for 6 months). Students reporting long-term weight loss were more likely to be male, but did not differ by age, ethnicity, socio-economic deprivation or measured weight status from students who reported temporary/recent weight loss or no weight loss. Students with long-term weight loss also reported healthier weight-control strategies (e.g., exercising, eating fewer fatty foods, eating fewer sweets), high parental support for healthy eating/activity and were less likely to report being teased about their weight by their family and having junk food available at home than students with temporary/recent weight loss or no weight loss. Approximately 50% of young people attempting weight loss reported sustained weight loss. Young people who reported sustained weight loss appeared to have more family support than those who did not achieve this, suggesting the importance for weight-control services and interventions in adolescents of actively engaging the family.

  2. Moynihan and the Single-Parent Family: The 1965 Report and Its Backlash

    Science.gov (United States)

    Patterson, James T.

    2015-01-01

    This article provides a highlight of Daniel Patrick Moynihan's report published in 1965 titled "The Negro Family: The Case for National Action." Despite government programs like the War on Poverty, Moynihan reported "the circumstances of the Negro American community was getting worse, not better." Moynihan, believed that…

  3. Familial dysfibrinogenemia and thrombophilia - Report on a study of the SSC subcommittee on fibrinogen

    NARCIS (Netherlands)

    Haverkate, F.; Samama, M.

    1995-01-01

    Approximately 250 cases of dysfibrinogenemia have been reported; 55% were asymptomatic (detected by chance), 25% had a tendency to bleeding, and 20% were reported to have a tendency to thrombosis. To establish a possible association between familial dysfibrinogenemia and thrombophilia, data on cases

  4. Genetic and familial predisposition to rotator cuff disease: a systematic review.

    Science.gov (United States)

    Dabija, Dominique I; Gao, Chan; Edwards, Todd L; Kuhn, John E; Jain, Nitin B

    2017-06-01

    Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria. Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1. Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Copyright © 2016 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  5. GATA2 is associated with familial early-onset coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Jessica J Connelly

    2006-08-01

    Full Text Available The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a surrogate for disease susceptibility. The GATA2 gene maps beneath the Chromosome 3q linkage peak from our family-based sample set (GENECARD study of early-onset coronary artery disease. Given these observations, we investigated the relationship of several known and novel polymorphisms within GATA2 to coronary artery disease. We identified five single nucleotide polymorphisms that were significantly associated with early-onset coronary artery disease in GENECARD. These results were validated by identifying significant association of two of these single nucleotide polymorphisms in an independent case-control sample set that was phenotypically similar to the GENECARD families. These observations identify GATA2 as a novel susceptibility gene for coronary artery disease and suggest that the study of this transcription factor and its downstream targets may uncover a regulatory network important for coronary artery disease inheritance.

  6. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

    Science.gov (United States)

    Constantinou-Deltas, C D; Papageorgiou, E; Boteva, K; Christodoulou, K; Breuning, M H; Peter, D J; Pierides, A

    1995-04-01

    Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with late age of onset. Three loci have been identified, PKD1 on the short arm of chromosome 16, which has recently been isolated and characterized, PKD2 on the long arm of chromosome 4, and a third locus of unknown location, that is apparently much rarer. In families that transmit the PKD2 gene there is a significantly later age of onset of symptoms, compared with families that transmit the PKD1 gene, and in general they present with milder progression of symptomatology. For the first time we attempted molecular genetic analysis in seven Cypriot families using highly polymorphic markers around the PKD1 and PKD2 genes. Our data showed that there is genetic and phenotypic heterogeneity among these families. For four of the families we obtained strong evidence for linkage to the PKD1 locus. In two of these families linkage to PKD1 was strengthened by excluding linkage to PKD2 with the use of marker D4S423. In three other families we showed linkage to the PKD2 locus. In the largest of these families one recombinant placed marker D4S1534 distal to D4S231, thereby rendering it the closest proximal marker known to us to date. The application of molecular methods allowed us to make presymptomatic diagnosis for a number of at-risk individuals.

  7. Pouch Salvage Surgery for Treatment of Colitis and Familial Adenomatous Polyposis: Report of Five Cases

    Directory of Open Access Journals (Sweden)

    Derakhshani

    2016-08-01

    Full Text Available Introduction The restorative proctocolectomy (RPC with ileal pouch-anal anastomosis (IPAA is currently the preferred surgical method for most patients with ulcerative colitis and familial adenomatous polyposis and sometimes, functional bowel diseases. Infection around the pouch, remaining rectal stump, stricture at anastomosis site, pouch dysfunction and refractory pouchitis can lead to pouch failure. Pouch salvage surgery could prevent pouch failure in some cases. Case Presentation In this report, five patients were introduced, who underwent pouch salvage surgery after RPC/IPAA surgery failure. Two of the patients were male and three were female and the relevant age range was 16 to 41. Initially, RPC/IPAA surgery was performed on these five patients. Four of the patients underwent RPC/IPAA surgery as a result of ulcerative colitis and, one of the patients as a result of familial adenomatous polyposis. However, due to pouch failure from the RPC/IPAA surgery, pouch-salvage surgery was performed on each of these five patients. Two of the patients underwent pouch-salvage surgery due to infection and pouch fistula, and the other three underwent this surgery due to the remaining rectal stump, anastomosis stenosis and pouch dysfunction. The average time for when pouch-salvage surgery was performed was 3.5 years (three months to five years after the initial operation and the patients were under follow-up care for two to seven years. Conclusions After performing pouch salvage operation, pouch function was acceptable in all patients and we could close ileostomies of all of them.

  8. Chronic Beryllium Disease Prevention Program Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S

    2012-03-29

    This document describes how Lawrence Livermore National Laboratory (LLNL) meets the requirements and management practices of federal regulation 10 CFR 850, 'Chronic Beryllium Disease Prevention Program (CBDPP).' This revision of the LLNL CBDPP incorporates clarification and editorial changes based on lessons learned from employee discussions, observations and reviews of Department of Energy (DOE) Complex and commercial industry beryllium (Be) safety programs. The information is used to strengthen beryllium safety practices at LLNL, particularly in the areas of: (1) Management of small parts and components; and (2) Communication of program status to employees. Future changes to LLNL beryllium activities and on-going operating experience will be incorporated into the program as described in Section S, 'Performance Feedback.'

  9. Infectious Disease Proteome Biomarkers: Final Technical Report

    Energy Technology Data Exchange (ETDEWEB)

    Bailey, Charles L.

    2011-12-31

    Research for the DOE Infectious Disease Proteome Biomarkers focused on Rift Valley fever virus (RVFV) and Venezuelan Equine Encephalitis Virus (VEEV). RVFV and VEEV are Category A and B pathogens respectively. Among the priority threats, RVFV and VEEV rank high in their potential for being weaponized and introduced to the United States, spreading quickly, and having a large health and economic impact. In addition, they both have live attenuated vaccine, which allows work to be performed at BSL-2. While the molecular biology of RVFV and VEEV are increasingly well-characterized, little is known about its host-pathogen interactions. Our research is aimed at determining critical alterations in host signaling pathways to identify therapeutics targeted against the host.

  10. Imaging manifestations of von Hippel-Lindau disease: a report of 3 cases

    Institute of Scientific and Technical Information of China (English)

    GONG Jing-shan; XU Jian-min

    2005-01-01

    @@ Von Hippel-Lindau (VHL) disease is an autosomal-dominant hereditary familial neoplasm syndrome characterized by development of a variety of benign and malignant tumors in multiple organ systems, such as the brain, kidney, pancreas, adrenal gland, and epididymis, with a prevalence of one in 39000-53000.1-4 Hallmarks of the condition include retinal angiomas, hemangioblastomas of the cerebellum and the spinal cord, renal cell carcinoma and cysts, and pheochromocytomas. In this article, we report imaging findings in three cases of VHL disease.

  11. A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.

    Science.gov (United States)

    Luedecke, Daniel; Becktepe, Jos S; Lehmbeck, Jan T; Finckh, Ulrich; Yamamoto, Raina; Jahn, Holger; Boelmans, Kai

    2014-04-30

    Mutations in the presenilin 1 (PS1) gene (PSEN1) are associated with familial Alzheimer disease (FAD). Here, we report on a 50-year-old patient presenting with progressive deterioration of his short-term memory and a family history of early-onset dementia. Diagnostic workup included a neuropsychological examination, structural magnetic resonance (MR) imaging, cerebrospinal fluid (CSF) biomarkers including total tau, phosphorylated tau, and Aβ42 levels, as well as sequencing relevant fragments of the genes PSEN1, PSEN2, and APP. Additionally, we were able to obtain archival paraffin-embedded cerebellar tissue from the patient's father for cosegregation analysis. Clinical, neuropsychological and MR imaging data were indicative of early-onset Alzheimer disease. Furthermore, CSF biomarkers showed a typical pattern for Alzheimer disease. DNA sequencing revealed a heterozygous nucleotide transition (c.824C>T) in exon 8 of PSEN1, leading to an amino acid change from alanine to valine at codon 275 (Ala275Val). The same mutation was found in an archival brain specimen of the patient's demented father, but not in a blood sample of the non-demented mother. This mutation alters a conserved residue in the large hydrophilic loop of PS1, suggesting pathogenic relevance. Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val.

  12. Refsum disease. Clinical and morphological report on a case.

    Science.gov (United States)

    Savettieri, G; Camarda, R; Galatioto, S; Bonavita, V

    1982-10-01

    An atypical case of Refsum disease is reported together with the peripheral nerve morphological data. The body fluids must be assayed for phytanic acid whenever an atypical chronic peripheral neuropathy is observed.

  13. A family with extrinsic allergic alveolitis caused by wild city pigeons: A case report

    NARCIS (Netherlands)

    G.J. du Marchie Sarvaas; P.J.F.M. Merkus (Peter); J.C. de Jongste (Johan)

    2000-01-01

    textabstractWe describe a family in which the mother died of unresolved lung disease and whose 5 children, some of whom had previous signs of asthma, were subsequently affected by extrinsic allergic alveolitis caused by contact with wild city pigeon antigens. The children received

  14. A family with extrinsic allergic alveolitis caused by wild city pigeons: A case report

    NARCIS (Netherlands)

    G.J. du Marchie Sarvaas; P.J.F.M. Merkus (Peter); J.C. de Jongste (Johan)

    2000-01-01

    textabstractWe describe a family in which the mother died of unresolved lung disease and whose 5 children, some of whom had previous signs of asthma, were subsequently affected by extrinsic allergic alveolitis caused by contact with wild city pigeon antigens. The children received

  15. Tofacitinib suppresses disease activity and febrile attacks in a patient with coexisting rheumatoid arthritis and familial Mediterranean fever

    Directory of Open Access Journals (Sweden)

    Kevser Gök

    2017-01-01

    Full Text Available Familial Mediterranean fever (FMF is the most common hereditary auto-inflammatory (periodic fever syndrome, and usually successfully treated with colchicine. However, nearly 5-10% of FMF cases are resistant or intolerant to colchicine and treatment options are highly restricted in these cases. Biologics including anakinra, canakinumab, rilonacept, etanercept, infliximab, interferon-alpha, and tocilizumab are shown to have efficacy to control FMF attacks. Tofacitinib, a Janus kinase (JAK inhibitor, is an orally administered non-biologic disease modifying anti-rheumatic drug for the treatment of rheumatoid arthritis (RA. Herein we report a female patient with coexisting RA and colchicine resistant FMF whose FMF attacks and disease activity were completely controlled after treatment with tofacitinib, a small-molecule JAK3 inhibitor.

  16. Investigating the Relationship Between Family Caregiving and Chronic Diseases Among Sandwich Generation Females

    Directory of Open Access Journals (Sweden)

    Zangeneh Pour Zadeh

    2016-10-01

    Full Text Available Background In the recent years, chronic diseases have been identified as challenges of public health and healthcare and are the major causes of death in the female population. Females make up 75% of family caregivers. The sandwich generation females, who care for their aging parents while supporting their own children, encounter an increase in stress related to chronic diseases, but in some studies, the issue of care involves lower depression risk and more constructive psychological effects. Objectives The aim of the present study was to investigate the relationship between family caregiving and chronic diseases in sandwich generation females. Patients and Methods This study was a case-control study in Ahvaz in which 360 females including 180 sandwich generation caregivers and 180 caregivers of one generation (i.e. those only taking care of their own child were selected using the random cluster sampling method during six months. The two groups of participants were matched in terms of age, number of children under their care and their socioeconomic status. Data analysis was conducted using the Kolmogorov-Smirnov (K-S test or KS test and chi-square tests through the SPSS v.22 software. Results A statistically significant difference was found between the two groups in terms of the presence of chronic diseases (P = 0.001. There was a significant correlation between chronic diseases and number of children (P = 0.03, person receiving care (P = 0.004, educational level (P = 0.001, caregiving duration (P = 0.005, and socioeconomic status (P = 0.14. Chronic diseases in caregivers with more than four children, under diploma educational level, and with unfavorable socioeconomic status were more than others. Additionally, the occurrence of chronic diseases was more in females caring for their grandchildren. There was no significant correlation between chronic diseases and the age of caregivers (P > 0.05. Conclusions The current study revealed that a

  17. Pott's Disease in a Pediatric Patient. A Case Report

    Directory of Open Access Journals (Sweden)

    Lourdes Marimón Amador

    2014-08-01

    Full Text Available The case of a four-year old boy with Pott's disease diagnosed by clinical, radiological and laboratory study at the Guido Valladares National Hospital in East Timor is presented. Inquiries about the etiopathogenesis of the disease in relation to the family and personal history were conducted. This is a very complex and clinically important case since a rare and serious complication was observed in the child. It is concluded that early diagnosis of this condition is essential due to its poor prognosis once developed.

  18. [Identifying different susceptibility loci associated with early onset diabetes and cardiovascular disease in Mexican families].

    Science.gov (United States)

    Canizales-Quinteros, Samuel; Huertas-Vázquez, Adriana; Riba-Ramírez, Laura; Monroy-Guzmán, Adriana; Domínguez-López, Aarón; Romero-Hidalgo, Sandra; Aguilar-Salinas, Carlos; Rodríguez-Torres, Maribel; Ramírez-Jiménez, Salvador; Tusié-Luna, María Teresa

    2005-01-01

    Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early-onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.

  19. Researches Regarding the Testing of Bee Family Resistance to Bee Brood Diseases

    Directory of Open Access Journals (Sweden)

    Silvia Pătruică

    2010-10-01

    Full Text Available In this work, we tested the resistance of bee families to young bee diseases. The researches were carried out in two apiaries from Timişoara and Comoraste, Caras-Severin County. The biological material was consisted of 10 bee families belonging to the species Apis mellifica carpatica, distributed in two experimental variants of 5 families, with almost equal power. During this experiment, we assessed the degree of cleaning and removing of the young bees that died of freezing. Successive to the researches performed, in all the three controls we observed significant differences, from a statistical viewpoint (p<0.05 between the two experimental variants, regarding the number of cells with removed dead young bees.

  20. Cortical involvement of marchiafava-bignami disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Jang, Han Won [Yeungnam University College of Medicine, Daegu (Korea, Republic of)

    2007-03-15

    Marchiafava-Bignami disease is a rare complication of chronic alcoholism and this malady typically manifests as callosal lesion. I report here on one patient with Marchiafava-bignami disease (MBD) who has symmetric restricted diffusion in both lateral-frontal cortices, in addition to the callosal lesion.

  1. [Castleman's disease with abdominal localization. Report of an unusual case].

    Science.gov (United States)

    Russo, R; Vertemati, G; Carzaniga, P L; Ballerini, A; Rossi, G; Zuccoli, E

    1995-10-01

    Castleman's disease is an unusual condition characterized by uncontrolled growth of lymphoid tissue. The first case was recorded by Castleman in 1956. In this paper a case of the above-mentioned disease is reported with regard to its unusual clinica-histologic aspect (localized form of plasmacellular type) and surgical therapeutic strategies.

  2. Addison’s Disease: A rare case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2015-04-01

    Full Text Available A female patient presented with progressive weakness, asthenia and generalized hyperpigmentation. The characteristic hyperpimentation pointed towards possibility of Addison’s disease which was proved by markedly decreased plasma cortisol levels, hyponatremia and hyperkalemia. This could be one of the very few cases of Addison’s Disease reported.

  3. Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.

    Science.gov (United States)

    Müller, Charlotte M; Haase, Michael G; Kemnitz, Ivonne; Fitze, Guido

    2014-05-10

    Mutations and polymorphisms in the RET gene are a major cause of Hirschsprung disease (HSCR). Theoretically, all true heterozygous patients with a new manifestation of a genetically determined disease must have parents with a genetic mosaicism of some extent. However, no genetic mosaicism has been described for the RET gene in HSCR yet. Therefore, we analyzed families with mutations in the RET gene for genetic mosaicism in the parents of the patients. Blood samples were taken from patients with HSCR and their families/parents to sequence the RET coding region. Among 125 families with HSCR, 33 families with RET mutations were analyzed. In one family, we detected a frameshift mutation due to a loss of one in a row of four cytosines in codon 117/118 of the RET gene (c.352delC) leading to a frameshift mutation in the protein (p.Leu118Cysfs*105) that affected two siblings. In the blood sample of the asymptomatic father we found a genetic mosaicism of this mutation which was confirmed in two independent samples of saliva and hair roots. Quantification of peak-heights and comparison with different mixtures of normal and mutated plasmid DNA suggested that the mutation occurred in the early morula stadium of the founder, between the 4- and 8-cell stages. We conclude that the presence of a RET mutation leading to loss of one functional allele in 20 to 25% of the cells is not sufficient to cause HSCR. The possibility of a mosaicism has to be kept in mind during genetic counseling for inherited diseases.

  4. Host-microbiome interaction in Crohn’s disease: A familiar or familial issue?

    Institute of Scientific and Technical Information of China (English)

    Andrea; Michielan; Renata; D’Incà

    2015-01-01

    An impaired interaction between the gut and the intestinal microbiome is likely to be the key element in the pathogenesis of Crohn’s disease(CD). Family studies have provided invaluable information on CD pathogenesis and on its etiology. Relatives share the same genetic risk of developing the disease as affected subjects. Relatives also exhibit similar features relating to their host-microbiome interaction, namely genetic variants in loci involved in detecting bacteria, a greater seroreactivity to microbial components, and an impaired intestinal permeability. The burden of environmental factors such as cigarette smoking and dysbiosis also seems to be particularly relevant in these genetically predisposed subjects. Diet is emerging as an important factor and could account for the changing epidemiology of CD in recent years. Despite the pivotal role of genetics in the disease’s pathogenesis(especially in familial CD), screening tests in healthy relatives cannot be recommended.

  5. Are the educational differences in incidence of cardiovascular disease explained by underlying familial factors?

    DEFF Research Database (Denmark)

    Madsen, Mia; Andersen, Per Kragh; Gerster, Mette;

    2014-01-01

    To isolate the effect of education from the influence of potential underlying factors, we investigated the association of education with the risk of cardiovascular disease (CVD) and ischemic heart disease (IHD) using twin data to adjust for familial factors shared within twins, including genetic...... make-up and childhood environment. The study was based on data from the Danish Twin Registry linked to administrative and heath registers in Statistics Denmark. A total of 11,968 monozygotic and 20,464 dizygotic same sexed twins were followed from 1980 to 2009, including more than 8000 events of CVD....... Unpaired and intra-pair analyses were compared. In the unpaired analyses, an inverse educational gradient in CVD- and IHD risk was observed. This association was not replicated in the intra-pair analyses that control for shared familial factors exploiting that twins share their intrauterine- and childhood...

  6. Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.

    Science.gov (United States)

    Giovagnoli, Anna Rita; Marcon, Gabriella; Giaccone, Giorgio; Confaloni, Anna Maria; Tagliavini, Fabrizio

    2006-01-01

    The neuropsychological assessment of non-demented subjects with gene mutation of familial Alzheimer's disease (AD) provides a model for exploring the early cognitive features of the disease. We evaluated 1 patient and 6 non-demented subjects belonging to a family with AD with M239V mutation of the presenilin 2 gene, aiming to verify the contribution of specific cognitive patterns to the characterization of familial AD. One patient, 3 non-demented subjects with M239V mutation and 3 subjects without mutation from the same family underwent neuropsychological testing. The patient's cognitive profile was characterized by anosognosia, visuospatial agnosia, apraxia and fluent aphasia. Of the 3 non-demented subjects with mutation, 1 showed no deficits, another constructive apraxia and the third spatial perception and memory deficits. The 3 subjects without mutation showed normal abilities. The cognitive deficits of the non-demented subjects with mutations indicate focal dysfunction of the posterior cortical areas, resembling the more extended parieto-occipito-temporal dysfunction of the demented patient. Such grading of visuospatial, praxis, and language impairments highlights a distinctive pattern related to the M239V mutation of the presenilin 2 gene.

  7. Patients' diagnosis decisions in Alzheimer's disease: the influence of family factors.

    Science.gov (United States)

    Rapp, Thomas

    2014-10-01

    It is surprising to observe that the number of patients receiving a late diagnosis for Alzheimer's disease (AD) remains high even in countries promoting early diagnosis campaigns. We explore the impact of family history and family support on the risks of receiving a delayed diagnosis. We use French data of 1131 patients diagnosed between 1991 and 2005. We find that the presence of AD history in the family increased the risks of receiving a delayed diagnosis. This was true especially when AD history involved brothers, sisters and other relatives (uncles or cousins). The presence of an informal caregiver at the time of the first warning signs reduced the risks of receiving a late diagnosis, regardless of the informal caregiver concerned (spouse, son, daughter etc.). We identify several opportunities for early detection campaigns. Families with history of disease should be targeted. Campaigns should also target isolated patients, who do not benefit from informal care. Our results underline the importance of improving the diagnosis access for old patients and for men. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Preiser’s disease: two cases report

    Directory of Open Access Journals (Sweden)

    G.P. Ferrari

    2011-09-01

    Full Text Available Preiser’s syndrome is a rare osteochondrosis affecting the carpal scaphoid, frequently related with an avascular necrosis. Osteoarthritic changes of the articular cartilage, local synovitis, and loose fragments are the most common findings associated with this syndrome. We report here two patients with Preiser’s syndrome, one with and one without a traumatic history, both presenting with pain, swelling and functional impairement of the wrist. In one patient radiography was sufficient for the diagnosis, in the other NMR was necessary to clearly establish type and extension of the lesion. Differential diagnosis may be sometimes difficult and the therapeutic approach on depends on several aspects, including etiology and type of occupational activity.

  9. Familial Mediterranean fever (a periodic disease: The present-day view of the problem

    Directory of Open Access Journals (Sweden)

    Evgeny Stanislavovich Fedorov

    2013-03-01

    Full Text Available The paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance. The most common types of mutations are given. Hyperactivation of innate (antigen-specific immunity is a basic pathogenic mechanism of the disease and IL-1ß is a leading mediator. FMF prominently occurs in certain ethnic groups (Sephardic Jews, Armenians, Turks, and Arabs. In spite of the fact that there may be multiple organ failure, 12-72-hour febrile fever episodes accompanied by the symptoms of peritonitis and/or pleuropericarditis. AA amyloidosis is the most serious complication of FMF. Colchicine therapy is a basic treatment for preventing this complication. In case of colchicine inef-fi-cacy/intolerance, other agents, including genetically engineered biological drugs (IL-1ß inhibitors, etc., may be used.

  10. Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases

    Science.gov (United States)

    Forloni, Gianluigi; Tettamanti, Mauro; Lucca, Ugo; Albanese, Yasmin; Quaglio, Elena; Chiesa, Roberto; Erbetta, Alessandra; Villani, Flavio; Redaelli, Veronica; Tagliavini, Fabrizio; Artuso, Vladimiro; Roiter, Ignazio

    2015-01-01

    Abstract The text describes a preventive clinical trial with drug treatment in a very rare neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help of individuals at genetic risk of developing the disease, asymptomatic carriers, who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old will be treated with doxycycline (100 mg/die) and the incidence of the disease will be compared to that of an historical dataset. For ethical reasons a randomized, double-blind, placebo-controlled trial was not feasible, however the study design and the statistical analysis ensure the scientific value of the results. This approach might represent an important breakthrough in terms of potential therapy and knowledge of rare diseases that could give some hopes to these neglected patients. PMID:25996399

  11. Familial Mediterranean fever (a periodic disease: The present-day view of the problem

    Directory of Open Access Journals (Sweden)

    Evgeny Stanislavovich Fedorov

    2013-01-01

    Full Text Available The paper deals with the most common classical autoinflammatory disease familial Mediterra-nean fever (FMF/periodic disease. This is a monogenic hereditary disease caused by mutations with an autosomal recessive pattern of inheritance. The most common types of mutations are given. Hyperactivation of innate (antigen-specific immunity is a basic pathogenic mechanism of the disease and IL-1ß is a leading mediator. FMF prominently occurs in certain ethnic groups (Sephardic Jews, Armenians, Turks, and Arabs. In spite of the fact that there may be multiple organ failure, 12-72-hour febrile fever episodes accompanied by the symptoms of peritonitis and/or pleuropericarditis. AA amyloidosis is the most serious complication of FMF. Colchicine therapy is a basic treatment for preventing this complication. In case of colchicine inef-fi-cacy/intolerance, other agents, including genetically engineered biological drugs (IL-1ß inhibitors, etc., may be used.

  12. Effect of communication style and physician-family relationships on satisfaction with pediatric chronic disease care.

    Science.gov (United States)

    Swedlund, Matthew P; Schumacher, Jayna B; Young, Henry N; Cox, Elizabeth D

    2012-01-01

    Over 8% of children have a chronic disease and many are unable to adhere to treatment. Satisfaction with chronic disease care can impact adherence. We examine how visit satisfaction is associated with physician communication style and ongoing physician-family relationships. We collected surveys and visit videos for 75 children ages 9-16 years visiting for asthma, diabetes, or sickle cell disease management. Raters assessed physician communication style (friendliness, interest, responsiveness, and dominance) from visit videos. Quality of the ongoing relationship was measured with four survey items (parent-physician relationship, child-physician relationship, comfort asking questions, and trust in the physician), while a single item assessed satisfaction. Correlations and chi square were used to assess association of satisfaction with communication style or quality of the ongoing relationship. Satisfaction was positively associated with physician to parent (p communication style and the quality of the ongoing relationship contribute to pediatric chronic disease visit satisfaction.

  13. Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins*

    Science.gov (United States)

    Watanabe, Shoji; Kaneko, Kumi; Yamanaka, Koji

    2013-01-01

    Abnormal protein accumulation is a pathological hallmark of neurodegenerative diseases, including accumulation of TAR DNA-binding protein 43 (TDP-43) in amyotrophic lateral sclerosis (ALS). Dominant mutations in the TDP-43 gene are causative for familial ALS; however, the relationship between mutant protein biochemical phenotypes and disease course and their significance to disease pathomechanism are not known. Here, we found that longer half-lives of mutant proteins correlated with accelerated disease onset. Based on our findings, we established a cell model in which chronic stabilization of wild-type TDP-43 protein provoked cytotoxicity and recapitulated pathogenic protein cleavage and insolubility to the detergent Sarkosyl, TDP-43 properties that have been observed in sporadic ALS lesions. Furthermore, these cells showed proteasomal impairment and dysregulation of their own mRNA levels. These results suggest that chronically increased stability of mutant or wild-type TDP-43 proteins results in a gain of toxicity through abnormal proteostasis. PMID:23235148

  14. Apolipoprotein E-epsilon 4 allele and familial risk in Alzheimer's disease.

    Science.gov (United States)

    Li, G; Silverman, J M; Altstiel, L D; Haroutunian, V; Perl, D P; Purohit, D; Birstein, S; Lantz, M; Mohs, R C; Davis, K L

    1996-01-01

    Recent studies have found an association between presence of apolipoprotein E (APOE) epsilon 4 allele and Alzheimer's disease (AD). The present study compared the cumulative risk of primary progressive dementia (PPD) in relatives of AD probands carrying at least one copy of the epsilon 4 allele with the relatives of AD probands not carrying epsilon 4 and with relatives of non-demented controls. Our aim was to determine whether the familial aggregation of PPD in relatives of AD probands is primarily due to those carrying epsilon 4. Seventy-seven neuropathologically diagnosed AD patients were obtained as probands through our Alzheimer's Disease Research Center Brain Bank. AD probands were genotyped for APOE. As a comparison group, 198 non-demented probands were also included. Through family informants, demographic and diagnostic data were collected on 382 first-degree relatives (age > or = 45 years) of AD probands and 848 relatives of the controls. We found that the cumulative risk of PPD in both relatives of AD probands with and without the epsilon 4 allele was significantly higher than that in the relatives of non-demented controls. However, the increased risk in the relatives of AD probands with the epsilon 4 allele was marginally, but not significantly, lower than the risk in the relatives of probands without epsilon 4. A greater likelihood of death by heart diseases over developing PPD in relatives of AD probands with epsilon 4 (3.1-fold increase) was found compared to relatives of probands without epsilon 4 (1.7-fold increase), especially prior to age 70, although the difference was not statistically significant. The increased familial risk for PPD in the relatives of AD probands with the APOE-epsilon 4 allele relative to controls suggests that familial factors in addition to APOE-epsilon 4 are risk factors for AD. Differential censorship from increased mortality of heart diseases may have prevented a higher incidence of PPD among the relatives of probands with

  15. Burden and associated pathologies in family caregivers of Alzheimer’s disease patients in Spain

    OpenAIRE

    Vérez Cotelo N; Andrés Rodríguez NF; Fornos Pérez JA; Andrés Iglesias JC; Ríos Lago M.

    2015-01-01

    Objectives: To evaluate the profile of family caregivers of Alzheimer´s disease patients, identify any signs of psychopathology, quantify the level of perceived burden on the caregiver, and determine the caregiver’s relationship with their pharmacist. Methods: A cross-sectional study was conducted at a community pharmacy in Pontevedra, Spain. Demographic variables were collected, and the following questionnaires were administered: the Beck Depression Inventory-II, STAI-Anxiety Questionnair...

  16. Familial Mediterranean fever is no longer a rare disease in Japan

    OpenAIRE

    Migita, Kiyoshi; Izumi, Yasumori; Jiuchi, Yuka; Iwanaga, Nozomi; Kawahara, Chieko; Agematsu, Kazunaga; Yachie, Akihiro; Masumoto, Junya; Fujikawa, Keita; Yamasaki, Satoshi; Nakamura, Tadashi; Ubara, Yoshifumi; Koga, Tomohiro; Nakashima, Yoshikazu; Shimizu, Toshimasa

    2016-01-01

    Background The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. Methods We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases. Mutation detectio...

  17. Mutations in NR4A2 associated with familial Parkinson disease.

    Science.gov (United States)

    Le, Wei-Dong; Xu, Pingyi; Jankovic, Joseph; Jiang, Hong; Appel, Stanley H; Smith, Roy G; Vassilatis, Demetrios K

    2003-01-01

    NR4A2, encoding a member of nuclear receptor superfamily, is essential for the differentiation of the nigral dopaminergic neurons. To determine whether NR4A2 is a susceptibility gene for Parkinson disease, we carried out genetic analyses in 201 individuals affected with Parkinson disease and 221 age-matched unaffected controls. We identified two mutations in NR4A2 associated with Parkinson disease (-291Tdel and -245T-->G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 individuals with familial Parkinson disease but not in any individuals with sporadic Parkinson disease (n = 94) or in unaffected controls (n = 221). The age at onset of disease and clinical features of these ten individuals were not different from those of individuals with typical Parkinson disease. The mutations resulted in a marked decrease in NR4A2 mRNA levels in transfected cell lines and in lymphocytes of affected individuals. Additionally, mutations in NR4A2 affect transcription of the gene encoding tyrosine hydroxylase. These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.

  18. Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report.

    Science.gov (United States)

    Pilato, Brunella; De Summa, Simona; Danza, Katia; Lambo, Rossana; Paradiso, Angelo; Tommasi, Stefania

    2010-12-01

    Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time. In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman who developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father, respectively. In this family all available members have been investigated. The concomitant presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

  19. [Multidrug-Resistant Tuberculosis by Strains of Beijing Family, in Patients from Lisbon, Portugal: Preliminary Report].

    Science.gov (United States)

    Maltez, Fernando; Martins, Teresa; Póvoas, Diana; Cabo, João; Peres, Helena; Antunes, Francisco; Perdigão, João; Portugal, Isabel

    2017-03-31

    Beijing family strains of Mycobacterium tuberculosis are associated with multidrug-resistance. Although strains of the Lisboa family are the most common among multidrug-resistant and extensively drug-resistant patients in the region, several studies have reported the presence of the Beijing family. However, the features of patients from whom they were isolated, are not yet known. Retrospective study involving 104 multidrug-resistant and extensively drug-resistant strains of Mycobacterium tuberculosis, from the same number of patients, isolated and genotyped between 1993 and 2015 in Lisbon. We assessed the prevalence of strains of both families and the epidemiologic and clinical features of those infected with Beijing family strains. Seventy-four strains (71.2%) belonged to the Lisboa family, 25 (24.0%) showed a unique genotypic pattern and five (4.8%) belonged to the Beijing family, the latter identified after 2009. Those infected with Beijing family strains were angolan (n = 1), ukrainian (n = 2) and portuguese (n = 2), mainly young-aged and, four of five immunocompetent and with no past history of tuberculosis. All had multidrug-resistant tuberculosis. We did not find any distinctive clinical or radiological features, neither a predominant resistance pattern. Cure rate was high (four patients). Although the number of infected patients with Beijing strains was small, it suggests an important proportion of primary tuberculosis, a potential for transmission in the community but also a better clinical outcome when compared to other reported strains, such as W-Beijing and Lisboa. Although Lisboa family strains account for most of the multidrug and extensively drug-resistant tuberculosis cases in Lisbon area, Beijing strains are transmitted in the city and might change the local characteristics of the epidemics.

  20. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

    Directory of Open Access Journals (Sweden)

    Elisangela P. S. Quedas

    2012-01-01

    Full Text Available Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of sporadic cases of Hirschsprung disease. The prevalence of Hirschsprung disease in multiple endocrine neoplasia type 2 cases was recently determined to be 7.5% and the cooccurrence of Hirschsprung disease and multiple endocrine neoplasia type 2 has been reported in at least 22 families so far. It was initially thought that Hirschsprung disease could be due to disturbances in apoptosis or due to a tendency of the mutated RET receptor to be retained in the Golgi apparatus. Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific RET haplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RET germline mutations are the genetic causes of Hirschsprung disease.