A case of familial polycystic kidney disease is reported. Although isolated cases of adult polycystic kidney disease have been reported in our environment, no case to our knowledge has been reported with a familial link. Polycystic kidney disease is said to be rare in Africans. Although it commonly terminates in chronic renal ...
Deasy, M J; Vogel, R I; Macedo-Sobrinho, B; Gertzman, G; Simon, B
A rare case report of periodontal disease associated with familial benign chronic neutropenia is presented. The medical, dental and family histories as well as clinical and histologic observations are described and discussed.
Polubriaginof, Fernanda C G; Vanguri, Rami; Quinnies, Kayla; Belbin, Gillian M; Yahi, Alexandre; Salmasian, Hojjat; Lorberbaum, Tal; Nwankwo, Victor; Li, Li; Shervey, Mark M; Glowe, Patricia; Ionita-Laza, Iuliana; Simmerling, Mary; Hripcsak, George; Bakken, Suzanne; Goldstein, David; Kiryluk, Krzysztof; Kenny, Eimear E; Dudley, Joel; Vawdrey, David K; Tatonetti, Nicholas P
Heritability is essential for understanding the biological causes of disease but requires laborious patient recruitment and phenotype ascertainment. Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. EHRs contain next-of-kin information collected via patient emergency contact forms, but until now, these data have gone unused in research. We mined emergency contact data at three academic medical centers and identified 7.4 million familial relationships while maintaining patient privacy. Identified relationships were consistent with genetically derived relatedness. We used EHR data to compute heritability estimates for 500 disease phenotypes. Overall, estimates were consistent with the literature and between sites. Inconsistencies were indicative of limitations and opportunities unique to EHR research. These analyses provide a validation of the use of EHRs for genetics and disease research. Copyright © 2018 Elsevier Inc. All rights reserved.
De Keyzer, T H W; De Veuster, I; Smets, R-M E
To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. Case report. A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated. Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible
Jona, Celine M H; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C; Andrews, Sophie C
Family functioning in Huntington's disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. The aim of the current study was to assess family functioning in HD families. We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD.
Jona, Celine M.H.; Labuschagne, Izelle; Mercieca, Emily-Clare; Fisher, Fiona; Gluyas, Cathy; Stout, Julie C.; Andrews, Sophie C.
Background: Family functioning in Huntington’s disease (HD) is known from previous studies to be adversely affected. However, which aspects of family functioning are disrupted is unknown, limiting the empirical basis around which to create supportive interventions. Objective: The aim of the current study was to assess family functioning in HD families. Methods: We assessed family functioning in 61 participants (38 HD gene-expanded participants and 23 family members) using the McMaster Family Assessment Device (FAD; Epstein, Baldwin and Bishop, 1983), which provides scores for seven domains of functioning: Problem Solving; Communication; Affective Involvement; Affective Responsiveness; Behavior Control; Roles; and General Family Functioning. Results: The most commonly reported disrupted domain for HD participants was Affective Involvement, which was reported by 39.5% of HD participants, followed closely by General Family Functioning (36.8%). For family members, the most commonly reported dysfunctional domains were Affective Involvement and Communication (both 52.2%). Furthermore, symptomatic HD participants reported more disruption to Problem Solving than pre-symptomatic HD participants. In terms of agreement between pre-symptomatic and symptomatic HD participants and their family members, all domains showed moderate to very good agreement. However, on average, family members rated Communication as more disrupted than their HD affected family member. Conclusion: These findings highlight the need to target areas of emotional engagement, communication skills and problem solving in family interventions in HD. PMID:28968240
Greenley, Rachel Neff; Doughty, Alyssa; Stephens, Mike; Kugathasan, Subra
To present psychometric data on youth and parent versions of the Inflammatory Bowel Disease-Family Responsibility Questionnaire (IBD-FRQ), a measure of family involvement in IBD management. Fifty-eight adolescents with inflammatory bowel disease (IBD), along with 55 mothers and 26 fathers completed the IBD-FRQ, a demographics questionnaire, and a measure of family involvement in decision making in non-IBD domains. Medical information was obtained via chart review. Support for the internal consistency of the IBD-FRQ was obtained. Evidence of validity was documented via moderate to high intercorrelations among reporters. Youth involvement increased with youth age, while maternal and paternal involvement decreased with youth age. Across all reporters, maternal involvement was higher than paternal involvement. Preliminary analyses offer support for the measure's reliability and validity. The measure shows promise as a means of assessing family involvement in IBD condition management; however, further validation studies are needed.
Rubinstein, Wendy S; O'neill, Suzanne M; Rothrock, Nan; Starzyk, Erin J; Beaumont, Jennifer L; Acheson, Louise S; Wang, Catharine; Gramling, Robert; Galliher, James M; Ruffin, Mack T
To determine the specific components of family history and personal characteristics related to disease perceptions about breast, colon, and ovarian cancers. Baseline, cross-sectional data on 2,505 healthy women aged 35-65 years enrolled from 41 primary care practices in the cluster-randomized Family Healthware™ Impact Trial, assessed for detailed family history and perceived risk, perceived severity, worry, and perceived control over getting six common diseases including breast, colon, and ovarian cancers. Participants provided family history information on 41,841 total relatives. We found evidence of underreporting of paternal family history and lower perceived breast cancer risk with cancer in the paternal versus maternal lineage. We observed cancer-specific perceived risks and worry for individual family history elements and also found novel "spillover" effects where a family history of one cancer was associated with altered disease perceptions of another. Having a mother with early-onset breast or ovarian cancer was strongly associated with perceived risk of breast cancer. Age, parenthood, and affected lineage were associated with disease perceptions and ran counter to empiric risks. Understanding patients' formulation of risk for multiple diseases is important for public health initiatives that seek to inform risk appraisal, influence disease perceptions, or match preventive interventions to existing risk perceptions.
Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika
Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.
Ito, Y; Oki, S; Mikami, T; Ogasawara, H; Kawamoto, Y; Sato, H; Yamaguchi, S; Hayashi, Y; Shindo, H
Two cases of astrocytoma associated with von Recklinghausen's disease (neurofibromatosis type; NF-1) were reported. The first case wes a 60-year-old man who had been diagnosed as von Recklinghausen's disease on the basis of skin findings. Magnetic resonance imaging (MRI) showed a tumor in the left temporal lobe. Partial removal was performed with neuronavigator, and because of the existence of Rosenthal fiber the histological diagnosis was pilocytic astrocytoma. Radiation therapy was performed. The second case was a 6-year-old boy suffering from headache and left hemiparesis including his face. MRI showed a tumor with a cyst in the right thalamus and obstructive hydrocephalus. Initially CT-guided stereotactic biopsy was performed, and the histological diagnosis, on the basis of increased cellularity, pleomorphism and nuclear atypia without necrosis or vascular proliferation, was anaplastic astrocytoma. Radiation and chemo-immuno therapy were carried out after V-P shunt. It is well known that von Recklinghausen's disease (NF-1) is often associated with optic glioma (5-36%). In the literature, the glioma seldom occurs in other parts of the brain, supratentorial glioma especially is rare. Only two familial cases of supratentorial glioma associated with von Recklinghausen's disease have been reported. The prognosis of supratentorial glioma associated with NF-1 was poor in these reports. In this paper, the diagnostic and therapeutic problems are discussed.
Emily G. Lefkowitz
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.
Radio, Francesca Clementina; Di Meglio, Lavinia; Agolini, Emanuele; Bellacchio, Emanuele; Rinelli, Martina; Toscano, Paolo; Boldrini, Renata; Novelli, Antonio; Di Meglio, Aniello; Dallapiccola, Bruno
Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
Lee, S K; Tham, K T; Cheung, K P; Jenkins, W J
Two cases of hemolytic disease of new born in a Chinese family are reported. The hemolysis was due to the production in the mother of antibodies against fractions A, C, and D of Rh(D) antigen. The fractions were absent in the mother's red blood cells which are Rh(DB) but present in her babies. Rh(DB) may be detected by the use of two types of anti-D sera, one with and the other without anti-DB activity. For transfusion purpose, all DB patients so tested, would be regarded as Rh(D) negative.
... DEPARTMENT OF HOUSING AND URBAN DEVELOPMENT [Docket No. FR-5376-N-25] Family Report, MTW Family... comments on the subject proposal. Tenant data is collected to understand demographic, family profile.... This Notice Also Lists the Following Information Title of Proposal: Family Report, MTW Family Report...
Verma, Shyam; Pasternack, Sandra M.; Rütten, Arno; Ruzicka, Thomas; Betz, Regina C.; Hanneken, Sandra
Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family where 25 persons have DDD and have been able to document a KRT5 mutation in four members of the family. Whereas reticulate pigmentation is a hallmark of DDD there are rare reports of mottled pigmentation with multiple asymptomatic hypopigmented macules scattered diffusely along with the pigmentation. All the cases described here show a mottled pigmentation comprising hypo and hyperpigmented asymptomatic macules. After the clinical diagnosis was made by one of the authors (SV) in India, the German authors repeated histological examination and successfully demonstrated a heterozygous nonsense mutation, c.C10T (p.Gln4X), in exon 1 of the KRT5 gene, from various centers in Munich, Bonn, Dusseldorf and Friedrichschafen in Germany. PMID:25284854
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)
Givens, J R
Emphasis is placed on the heterogeneity of the phenotypic presentation of PCOD. It is the common expression of an unknown number of disorders and thus is a sign and not a specific diagnosis. Two essential features are arrested follicular maturation and atresia of follicles. Normal folliculogenesis is described, emphasizing that a large number of areas could be subject to derangement causing PCOD. Any interference of the finely balanced sequence of events can lead to PCOD. The genetic defect causing familial PCOD is unknown and the initiating event remains undefined. Three families are described that illustrate four features of familial PCOD. A number of associated disorders such as diabetes, hyperinsulinemia, obesity, and hypertension are described. The potential importance of agents that modulate the LH and FSH activity that may cause PCOD is emphasized. The theoretic means by which similar male and female gonadal abnormalities may be coupled in families through growth factors EGF and alpha TGF are presented.
Harendra de Silva, D G; de Silva, D B
Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family with typical features of Norrie's disease.
李延峰; 郭玉璞; 池田修一; 方定华
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.
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.
Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J
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...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...
José Lamartine de Assis
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.
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
Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.
Green, Robert G.
Describes and compares two self-report measures of family competence: the Family Awareness Scales (FAS) (Green and Kolevzon, late 1970s) and the Self-Report Family Inventory (SFI) (Beavers, 1983). Discusses reliability and validity. Their focus on the "insider" (family member) is different from the traditional examination of family…
Sun, J.; Alphen, A.M. van; Wagenaar, M.; Huygen, P.L.M.; Hoogenraad, C.C.; Hasson, T.; Koekkoek, S.K.; Bohne, B.A.; Zeeuw, C.I. de
Identification of genes involved in hereditary vestibular disease is growing at a remarkable pace. Mutant mouse technology can be an important tool for understanding the biological mechanism of human vestibular diseases.
Silventoinen, Karri; Hjelmborg, Jacob; Möller, Sören
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...... and other familial factors. Methods: Altogether, 132 771 twin individuals, including 65 196 complete pairs from Denmark, Finland and Sweden born in 1958 or earlier, participated in this study. During the register-based follow-up, 11 641 deaths occurred from coronary heart disease (CHD), including 6280...
Orholm, M; Munkholm, P; Langholz, E
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, a...
Barroso Marquez, Lisset; Tusen Toledo, Yunia; Chao Gonzalez, Lissette; Alonso Soto, Jordi
Familial adenomatous polyposis is an inherited disease characterized by the appearance of multiple colorectal adenomas by the teenagers and with an incidence of colorectal cancer approaching 100%. We present herein a 39-years-old man with an atypical form of the disease, an attenuated variant, and we comment the importance of management guidelines for surveillance of the patients and their families
Williams, Janet K; Skirton, Heather; Paulsen, Jane S; Tripp-Reimer, Toni; Jarmon, Lori; McGonigal Kenney, Meghan; Birrer, Emily; Hennig, Bonnie L; Honeyford, Joann
This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience. Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members. Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis. All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure. Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.
Andreu, M; Márquez, L; Domènech, E; Gisbert, J P; García, V; Marín-Jiménez, I; Peñalva, M; Gomollón, F; Calvet, X; Merino, O; Garcia-Planella, E; Vázquez-Romero, N; Esteve, M; Nos, P; Gutiérrez, A; Vera, I; Cabriada, J L; Martín, M D; Cañas-Ventura, A; Panés, J
Phenotypic traits of familial IBD relative to sporadic cases are controversial, probably related to limited statistical power of published evidence. To know if there are phenotype differences between familial and sporadic IBD, evaluating the prospective Spanish registry (ENEIDA) with 11,983 cases. 5783 patients (48.3%) had ulcerative colitis (UC) and 6200 (51.7%) Crohn's disease (CD). Cases with one or more 1st, 2nd or 3rd degree relatives affected by UC/CD were defined as familial case. In UC and CD, familial cases compared with sporadic cases had an earlier disease onset (UC: 33 years [IQR 25-44] vs 37 years [IQR 27-49]; p<0.0001); (CD: 27 years [IQR 21-35] vs 29 years [IQR 22-40]; p<0.0001), higher prevalence of extraintestinal immune-related manifestations (EIMs) (UC: 17.2% vs 14%; p=0.04); (CD: 30.1% vs 23.6%; p<0.0001). Familial CD had higher percentage of ileocolic location (42.7% vs 51.8%; p=0.0001), penetrating behavior (21% vs 17.6%; p=0.01) and perianal disease (32% vs 27.1%; p=0.003). Differences are not influenced by degree of consanguinity. When a sufficiently powered cohort is evaluated, familial aggregation in IBD is associated to an earlier disease onset, more EIMs and more severe phenotype in CD. This feature should be taken into account at establishing predictors of disease course. © 2013.
Schor, Edward L
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
Ewa Dorota Zalewska
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.
Note, Toshiko; Tawara, Satoru; Tsuruta, Kazuhito; Araki, Shukuro
Three cases of familial Alzheimer's disease were reported. The patients had an average of 41 years, and developed memory disturbance and pyramidal tract syndromes. Two had disturbance of gait and showed cerebellar symptoms. All three patients had hypotension, but had no hypotensive episodes, and no change in character or loss of character. Their IQ was extremely low, and encephalograms had delta theta waves dominant in right frontal region in one case, and general delta theta waves in the other two cases. Brain scintigraphy showed reflux to ventricle in case 2, but not in case 1. Cerebrospinal fluid was normal in all three cases, and chromosomes of cases 1 and 2 were normal 46 XY. CT scan showed that the cerebral cortex of all three patients was markedly shrunken, the sulci were enlarged and the ventricle was enlarged without being extremely rounded; the degree of cerebral atrophy according to Huckman et al. was mild in case 1 and moderate in cases 2 and 3. Slight cerebellar atrophy was detected in case 3. (Kaihara, S.)
Moini, Ashraf; Eslami, Bita
The goal of this study was focused on two subjects. First, to determine possible association between PCOS and family history of breast cancer, ovarian cancer, endometrial cancer, heart attack, thrombosis, diabetes and cardiovascular disease (CVD). Second, to evaluate maternal and paternal transmission in PCOS patients with positive family history of a disease. A cross-sectional study was conducted in 549 infertile women (273 with PCOS and 276 controls) in Arash hospital of Tehran, Iran, between 2007 and 2008 by using questionnaire. In this analysis, there were significantly increased number of women with the positive family history of diabetes among PCOS group (28.21% vs. 19.20%, p=0.01). Meanwhile, four women in PCOS group had self history of diabetes while no one in the control group reported diabetes. A statistically significant positive family history of breast cancer was found among the control group (4.35% vs. 1.30%, p=0.02). Endometrial cancer and diabetes were observed in mother or mother's side of the family but heart attack and thrombosis manifested in father or father's side of the family more. There were no statistically significant differences in a positive individual or family history of ovarian cancer, endometrial cancer, heart attack, thrombosis and CVD between the two groups. In the present study, women and their relatives with PCOS had an increased prevalence of diabetes and it is more common in mother's side of the family.
Gonzalez, Octavio A; Orraca, Luis; Kensler, Terry B; Gonzalez-Martinez, Janis; Maldonado, Elizabeth; Ebersole, Jeffrey L
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.
Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic lymphohistiocytosis has also been reported as a secondary association. Case reports: We report three ...
Wang, Jun; Zhuang, Shougang
Src family kinases (SFKs) belong to nonreceptor protein tyrosine kinases and have been implicated in the regulation of numerous cellular processes, including cell proliferation, differentiation, migration and invasion, and angiogenesis. The role and mechanisms of SFKs in tumorgenesis have been extensively investigated, and some SFK inhibitors are currently under clinical trials for tumor treatment. Recent studies have also demonstrated the importance of SFKs in regulating the development of various fibrosis-related chronic diseases (e.g., idiopathic pulmonary fibrosis, liver fibrosis, renal fibrosis, and systemic sclerosis). In this article, we summarize the roles of SFKs in various chronic kidney diseases, including glomerulonephritis, diabetic nephropathy, human immunodeficiency virus-associated nephropathy, autosomal dominant form of polycystic kidney disease, and obesity-associated kidney disease, and discuss the mechanisms involved. Copyright © 2017 the American Physiological Society.
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.
Schneiderman, Gerald; And Others
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)
van der Graaf, Anouk; Hutten, Barbara A.; Kastelein, John J. P.; Vissers, Maud N.
Heterozygous familial hypercholesterolemia is associated with elevated low-density lipoprotein cholesterol levels and the development of premature cardiovascular disease. Despite this general statement, data regarding the incidence of cardiovascular disease in young women with familial
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.
Røthing, Merete; Malterud, Kirsti; Frich, Jan C
AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide...... for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...
Jadhav, Meenal Vitthal; Landge, Meenal P; Sawaimoon, Satyakam K; Harke, Arun B; Deshmukh, Sanjay D
This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by enzyme studies. At postmortem, there was no organomegaly. The brain, on microscopy, showed vacuolated swollen neurons.
Al-Chalabi, Ammar; Lewis, Cathryn M
Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.
Leila El Matri
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.
Wiysonge, Charles Shey; Waggie, Zainab; Hawkridge, Anthony; Schoub, Barry; Madhi, Shabir Ahmed; Rees, Helen; Hussey, Gregory
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
Full Text Available Wilson Disease (WD is an autosomal recessive hereditary disease of human copper metabolism, which causes hepatic and neuropsychiatric diseases. Estimated prevalence is 1: 30.000. In WD, ATP7B gene located on chromosome 13 (13q14.3-q21.1, coding the protein for hepatic copper transport and, having an important role in copper metabolism has been affected. Clinical findings in WD are complex and, neurological symptoms such as tremor, disartria and psychiatric disorders, acute liver deficiency, chronic hepatit or cirrhosis may develop. For the last year, 27 years old female patient observed in other medical centre owing to benign positional vertigo applied to our department. Her sister and brother have been diagnosed as WD. No peripheral syptoms of hepatic disease or hepatosplenomegaly existed in our patient. Neurological examination was normal to except for positional tremor. Because our patient had rare clinical features for WD and bad prognosis, presented by us to emphasize necessity of the researched of the most frequent mutations seen in Turkiye.
disease management in the family practice selling. This paper discusses chronic disease management in the family practice selling....Chronic disease management is the process of evaluating and treating a medical condition or disease state which can not be readily cured so as to...minimize it’s negative impact on the individual. Examples of chronic disease management include the treatment of hypertension, diabetes, osteoporosis
Samira Shizuko Parreão Oi
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.
López Silva, M C; Diz-Iglesias, P; Seoane-Romero, J M; Quintas, V; Méndez-Brea, F; Varela-Centelles, P
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.
Full Text Available 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=221. The diseases most frequently reported were ATLL (114 families and HAM/TSP (101 families. Most families (n=142 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
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.
Rackauskaite, Gija; Thorsen, Poul; Uldall, Peter Vilhelm
Purpose: To examine the reliability of the web-based GMFCS Family Report Questionnaire (GMFCS-FR) between 8 and 11 years old children, compared with the GMFCS-Expanded and Revised (GMFCS-E&R). Method: The GMFCS-FR was translated from the English GMFCS-FR into Danish after the CanChild guidelines;...... Danish children with CP. The tendency for less-ability rating by families is important when performing and comparing results from epidemiological studies based on GMFCS-FR and GMFCS-E&R. [Box: see text].......Purpose: To examine the reliability of the web-based GMFCS Family Report Questionnaire (GMFCS-FR) between 8 and 11 years old children, compared with the GMFCS-Expanded and Revised (GMFCS-E&R). Method: The GMFCS-FR was translated from the English GMFCS-FR into Danish after the CanChild guidelines......; only the order of levels was chosen like in the GMFCS-E&R. Families of 30 children with spastic and dystonic cerebral palsy (age from 8 to 11 years, randomly selected from a cerebral palsy register) answered the GMFCS-FR and were later interviewed by two physiotherapists. Participants and non...
Kanervisto, Merja; Paavilainen, Eija; Astedt-Kurki, Päivi
The purpose of this study was to ascertain family dynamics of Finnish patients with severe chronic obstructive pulmonary disease (COPD) on the basis of Barnhill's framework for healthy family functioning. This study used description and comparison and an interview-administered questionnaire and survey. Participants were patients with COPD and their family members (n = 65) living in the Tampere University Hospital catchment area. The sample consisted of families of home oxygen therapy patients (n = 36) and families of inpatients (n = 29). Families consisted of patients and their family members. Data were collected from patients by interview-administered questionnaires and from family members by survey. The instrument used was the Family Dynamics Measure 2, operationalized and tested by the American Family Research Group. Families of home oxygen therapy patients experienced significantly more mutuality (P =.03) and made decisions about their illness and life significantly more independently (P =.05) than families of inpatients. Families of home oxygen therapy patients handled change significantly more flexibly (P =.03) than families of inpatients. For the most part, families of both patient groups functioned well, but overall family functioning was clearly better in families of home oxygen therapy patients. The sample included some dysfunctional and even severely dysfunctional families. The results of this study cannot be generalized beyond the study sample because of the small sample size, but they provide suggestions for developing the care of patients with COPD and their families.
Casey, Christine; Brooke, Tony; Davies, Rebecca; Franklin, Deborah
Benign familial neutropenia (BFN) is a condition where there is a decrease in circulating neutrophils in the blood and patients suffer from oral manifestations which include: persistant periodontal disease, recurrent neutropenic ulceration and candidal infections. This report discusses a family affected by BFN and the effects on their oral health. Benign familial neutropenia is a rare condition and this article aims to raise awareness among general dental practitioners so that prompt referral and management in secondary care can be arranged.
Royer, Ghislaine; Hanein, Sylvain; Raclin, Valérie; Gigarel, Nadine; Rozet, Jean-Michel; Munnich, Arnold; Steffann, Julie; Dufier, Jean-Louis; Kaplan, Josseline; Bonnefont, Jean-Paul
Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype. Copyright 2003 Wiley-Liss, Inc.
Lhotta, Karl; Gehringer, A; Jennings, P; Kronenberg, F.; Brezinka, C; Andersone, I; Strazdins, V
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. CASE REPORTS AND RESULTS: A Latvian family suffering from FJHN is
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.
Johnstone, I. B.; Crane, S.
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...
National Center on Family Homelessness (NJ1), 2012
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,…
Siomos Konstantinos E
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.
Although family histories are used primarily to aid in diagnosis and risk assessment, their value is enhanced when the family is considered as a unit for research and disease prevention. The value of a family history of coronary heart disease (CHD) is increased when the age, sex, number of relatives, and age at onset of disease are incorporated in a quantitative family risk score. Medical and lifestyle risk factors that aggregate in families include dyslipidemia, hypertension, obesity, hyperfibrinogenemia, diabetes mellitus, smoking habits, eating patterns, alcohol consumption, physical activity, and socioeconomic status. Advances in detecting and understanding interactions between genetic susceptibility and modifiable risk factors should lead to improvements in prevention and treatment. However, working with families can be difficult. In the United States, families are usually small, are often widely dispersed, and may not be intact. Family histories may be unknown, affected relatives may be dead, and secular trends mask similarities among generations. Many exposures occur outside the home, and families change over time. Ethical, legal, and social issues arise when dealing with families. Nevertheless, opportunities are missed when research, clinical practice, and prevention focus on individual patients. Greater emphasis on families is needed to reduce the burden of CHD.
Full Text Available BACKGROUND: Countries face conflicting incentives to report infectious disease outbreaks. Reports of outbreaks can prompt other countries to impose trade and travel restrictions, which has the potential to discourage reporting. However, reports can also bring medical assistance to contain the outbreak, including access to vaccines. METHODS: We compiled data on reports of meningococcal meningitis to the World Health Organization (WHO from 54 African countries between 1966 and 2002, a period is marked by two events: first, a large outbreak reported from many countries in 1987 associated with the Hajj that resulted in more stringent requirements for meningitis vaccination among pilgrims; and second, another large outbreak in Sub-Saharan Africa in 1996 that led to a new international mechanism to supply vaccines to countries reporting a meningitis outbreak. We used fixed-effects regression modeling to statistically estimate the effect of external forcing events on the number of countries reporting cases of meningitis to WHO. FINDINGS: We find that the Hajj vaccination requirements started in 1988 were associated with reduced reporting, especially among countries with relatively fewer cases reported between 1966 and 1979. After the vaccine provision mechanism was in place in 1996, reporting among countries that had previously not reported meningitis outbreaks increased. INTERPRETATION: These results indicate that countries may respond to changing incentives to report outbreaks when they can do so. In the long term, these incentives are likely to be more important than surveillance assistance in prompt reporting of outbreaks.
Strate, Lisa L; Erichsen, Rune; Baron, John A
Little is known about the role of heritable factors in diverticular disease. We evaluated the contribution of heritable factors to the development of diverticular disease diagnosed at a hospitalization or outpatient visit....
Kondo, Hiroyuki; Qin, Minghui; Kusaka, Shunji; Tahira, Tomoko; Hasebe, Haruyuki; Hayashi, Hideyuki; Uchio, Eiichi; Hayashi, Kenshi
To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. The clinical symptoms and signs in the patients with mutations were assessed. X-inactivation in the female carriers was examined in three FEVR families by using leukocyte DNA. Four novel mutations-I18K, K54N, R115L, and IVS2-1G-->A-and one reported mutation, R97P, in the NDP gene were identified in six families. The severity of vitreoretinopathy varied among these patients. Three probands with either K54N or R115L had typical features of FEVR, whereas the proband with R97P had those of ND. Families with IVS2-1G-->A exhibited either ND or FEVR characteristics. A proband with I18K presented with significant phenotypic heterogeneity between the two eyes. In addition, affected female carriers in a family harboring the K54N mutation presented with different degrees of vascular abnormalities in the periphery of the retina. X-inactivation profiles indicated that the skewing was not significantly different between affected and unaffected women. These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. The X-inactivation assay with leukocytes may not be predictive of the presence of a mutation in affected female carriers.
Gardner, James F.; Markowitz, Ricka Keeney
The Maryland Family Support Services Consortium is a 3-year demonstration project which developed unique family support models at five sites serving the needs of families with a developmentally disabled child (ages birth to 21). Caseworkers provided direct intensive services to 224 families over the 3-year period, including counseling, liaison and…
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...
Trier Møller, Frederik; Andersen, Vibeke; Jess, Tine
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...... 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...... individuals with IBD, 7.8 -fold increased in 1. degree relatives to one family member with CD, and even 2.8-fold increased if the 1. degree relative had UC. The same pattern was observed for risk of UC. Second-degree relatives to patients with CD or UC were also at significantly increased risk not only...
Arai, Eisuke; Fujimaki, Takuro; Yanagawa, Ai; Fujiki, Keiko; Yokoyama, Toshiyuki; Okumura, Akihisa; Shimizu, Toshiaki; Murakami, Akira
Norrie disease (ND, MIM#310600) is an X-linked disorder characterized by severe vitreoretinal dysplasia at birth. We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes. Three brothers with suspected Norrie disease and their mother presented for clinical examination. After obtaining informed consent, DNA was extracted from the peripheral blood of the proband, one of his brothers and his unaffected mother. Exons 1-3 of the NDP gene were amplified by polymerase chain reaction (PCR), and direct sequencing was performed. Multiplex ligation-dependent probe amplification (MLPA) was also performed to search for copy number variants in the NDP gene. The clinical findings of the three brothers included no light perception, corneal opacity, shallow anterior chamber, leukocoria, total retinal detachment and mental retardation. Exon 2 of the NDP gene was not amplified in the proband and one brother, even when the PCR primers for exon 2 were changed, whereas the other two exons showed no mutations by direct sequencing. MLPA analysis showed deletion of exon 2 of the NDP gene in the proband and one brother, while there was only one copy of exon 2 in the mother. Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. To localize the defect, confirmation of copy number variation by the MLPA method was useful in the present study.
Fort, Meredith P; Castro, Maricruz; Peña, Liz; López Hernández, Sergio Hernán; Arreola Camacho, Gabriel; Ramírez-Zea, Manuel; Martínez, Homero
A healthy lifestyle intervention was implemented in primary care health centers in urban parts of Tuxtla Gutiérrez, Chiapas, Mexico with an aim of reducing cardiovascular disease risk for patients with type 2 diabetes and/or hypertension. During implementation, research questions emerged. Considerably fewer men participated in the intervention than women, and an opportunity was identified to increase the reach of activities aimed at improving disease self-management through strategies involving family members. A qualitative study was conducted to identify strategies to involve men and engage family members in disease management and risk reduction. Nine men with hypertension and/or type 2 diabetes with limited to no participation in disease self-management and health promotion activities, six families in which at least one family member had a diagnosis of one or both conditions, and nine health care providers from four different government health centers were recruited for the study. Participants took part in semi-structured interviews. During interviews with families, genograms and eco-maps were used to diagram family composition and structure, and capture the nature of patients' relationships to the extended family and community resources. Transcripts were coded and a general inductive analytic approach was used to identify themes related to men's limited participation in health promotion activities, family support and barriers to disease management, and health care providers' recommendations. Participants reported barriers to men's participation in chronic disease management and healthy lifestyle education activities that can be grouped into two categories: internal and external factors. Internal factors are those for which they are able to make the decision on their own and external factors are those that are not related solely to their decision to take part or not. Four primary aspects were identified related to families' relationships with disease: different
Sep 26, 2015 ... Marine Gil b ... many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic ... The diagnosis of secondary HLH is usually made in association with infection by viruses, bacteria, fungi, or para-.
Røthing, Merete; Malterud, Kirsti; Frich, Jan C
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...
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.
José Lamartine de Assis
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.
Michael L Alosco
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.
Boverhoff, J C; Baart, J A
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.
With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.
Mirza, Ambreen; King, Andrew; Troakes, Claire; Exley, Christopher
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.
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...
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...
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...
U.S. Department of Health & Human Services — NNDSS - Table I. infrequently reported notifiable diseases - 2018. In this Table, provisional cases of selected infrequently reported notifiable diseases (<1,000...
Kenborg, Line; Lassen, Christina F.; Ritz, Beate
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...
Wapenaar, M.C.; Monsuur, A.J.; Poell, J.; Slot, R. van 't; Meijer, J.W.R.; Meijer, G.A.; Mulder, C.J.; Mearin, M.L.; Wijmenga, C.
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
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
Veger, H. T. C.; Ravensbergen, N. J. C.; Ottenhof, A.; da Costa, S. A.
Lipoma is the most common type of soft tissue tumour. Multiple lipomas localised in different areas of the body are rare and can occur in specific hereditary syndromes. Familial multiple lipomatosis is a rare benign hereditary syndrome with a proposed autosomal-dominant inheritance. We present the
Full Text Available Background: Homozygous familial hypercholesterolemia is a rare inherited metabolic disease caused by low-density lipoprotein receptor abnormality. Patients with homozygous familial hypercholesterolemia have an increased risk of cardiovascular complication that usually occurs in the first decade of life. Here, we report a 12-year-old girl with an unpredicted presentation for coronary artery disease and found to have homozygous familial hypercholesterolemia. Case Report: A 12-year-old girl was admitted to our unit with syncope. Chest X-ray showed bilateral diffuse pneumonic consolidation and mild cardiomegaly. We detected stable ST depression by electrocardiography. Echocardiography showed normal systolic functions. Troponin-1 levels were high (66 mcg/dL, upper limit: 0.04 mcg/dL. Influenza A virus DNA was detected by the respiratory viral panel. After her successful treatment for acute pneumonia and myocarditis due to Influenza A virus, her syncope attacks persisted. Marked ST elevation was observed during exercise electrocardiography. Coronary angiography showed severe occlusions in the coronary arteries. High serum levels of total cholesterol (756 mg/dL and low-density lipoprotein-C (556 mg/dL were noticed. She had no tendon xanthomas. Medical histories revealed that her family members were diagnosed with heterozygous familial hypercholesterolemia. A coronary bypass surgery was performed. Statin and ezetimibe treatments were started. We also planned lipid apheresis. Conclusion: Children with homozygous familial hypercholesterolemia may present with symptoms of premature coronary heart disease requiring a routine lipid test and careful anamnesis.
Prior, Ana Rita; Moldovan, Oana; Azevedo, António; Moniz, Carlos
A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. The mass was firm, elongated, ill-defined, unmovable and painful at palpation. No overlying skin changes were seen. The newborn had a family history of neonatal bone swelling with resolution before the age of 2. Subsequent images showed hyperostosis in the diaphysis of the right tibia. After exclusion of other conditions such as trauma, osteomyelitis and congenital syphilis, the involvement of the tibial diaphysis, sparing the epiphyses and the benign course of the disease in family history, were indicative of Caffey disease. The genetic study confirmed this diagnosis. Caffey disease, although rare, should not be overlooked in the diagnostic approach to childhood bone swelling.
H S Mahapatra
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.
Lindquist, S.G.; Holm, I.E.; Schwartz, M.
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...
Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun
Purpose Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, ...
Full Text Available Grant Dewson, Ruth M KluckMolecular Genetics of Cancer Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, AustraliaAbstract: Apoptotic cell death is essential for embryonic development, tissue homeostasis, and a well-functioning immune system, with aberrant apoptosis contributing to numerous disease conditions. Inadequate cell death is a major contributing factor to tumorigenesis, while excess cell death contributes to neurodegeneration and autoimmune disease. The major pathway of apoptotic cell death, the mitochondrial pathway, is controlled by the Bcl-2 family of proteins. The members of this family, more than 17 in humans, share significant sequence and structural homology, and fulfil either prosurvival or proapoptotic roles. Specific interactions between these functionally polar proteins, and their relative expression levels, govern the susceptibility of each cell to toxic insults. Here we review the current understanding on how apoptotic cell death is controlled by this important protein family. We also discuss how excessive or insufficient cell death can contribute to disease, and how targeting the Bcl-2 family offers novel therapeutic opportunities.Keywords: apoptosis, Bcl-2, cancer, cytochrome c, mitochondria
Parra, Mario A; Saarimäki, Heini; Bastin, Mark E; Londoño, Ana C; Pettit, Lewis; Lopera, Francisco; Della Sala, Sergio; Abrahams, Sharon
Binding information in short-term and long-term memory are functions sensitive to Alzheimer's disease. They have been found to be affected in patients who meet criteria for familial Alzheimer's disease due to the mutation E280A of the PSEN1 gene. However, only short-term memory binding has been found to be affected in asymptomatic carriers of this mutation. The neural correlates of this dissociation are poorly understood. The present study used diffusion tensor magnetic resonance imaging to investigate whether the integrity of white matter structures could offer an account. A sample of 19 patients with familial Alzheimer's disease, 18 asymptomatic carriers and 21 non-carrier controls underwent diffusion tensor magnetic resonance imaging, neuropsychological and memory binding assessment. The short-term memory binding task required participants to detect changes across two consecutive screens displaying arrays of shapes, colours, or shape-colour bindings. The long-term memory binding task was a Paired Associates Learning Test. Performance on these tasks were entered into regression models. Relative to controls, patients with familial Alzheimer's disease performed poorly on both memory binding tasks. Asymptomatic carriers differed from controls only in the short-term memory binding task. White matter integrity explained poor memory binding performance only in patients with familial Alzheimer's disease. White matter water diffusion metrics from the frontal lobe accounted for poor performance on both memory binding tasks. Dissociations were found in the genu of corpus callosum which accounted for short-term memory binding impairments and in the hippocampal part of cingulum bundle which accounted for long-term memory binding deficits. The results indicate that white matter structures in the frontal and temporal lobes are vulnerable to the early stages of familial Alzheimer's disease and their damage is associated with impairments in two memory binding functions known to
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.
Kirstilä, V; Sewón, L; Laine, J
The periodontal status and treatment of three teenagers in a Finnish family with familial neutropenia is described. The mother was also diagnosed with neutropenia. At initial examination, the 15-year-old male and the 10-year-old female had severe periodontitis, whereas the 13-year-old male had oral ulcerations but no significant periodontal disease. The two siblings with periodontitis were treated and followed approximately 5 years. It was concluded that periodontal therapy including scaling, surgery, and use of antimicrobial agents can be successful in patients with familial neutropenia, and that such patients are not necessarily candidates for full mouth extraction. The role of granulocyte colony-stimulating factor in which was used in the treatment of these patients remains to be established.
Røthing, Merete; Malterud, Kirsti; Frich, Jan C.
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...... and the need for care for affected familymember(s). As the disease progressed, the balance was skewed, and thefamily caregivers’ participation in social activities gradually decreased,resulting in experiences of isolation and frustration. In later stages of thedisease, the need for care gradually overshadowed...... the caregivers’ ownactivities, and they put their own life on hold. Health professionals andsocial workers should acknowledge that family caregivers balance theirneeds and considerations in coping with HD. They should, therefore,tailor healthcare services and social support to family caregivers’ needsduring...
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.
Thirsk, Lorraine M; Moore, Sarah G; Keyko, Kacey
To explore how Registered Nurses address psychosocial issues for patients and their families living with chronic kidney disease. It is in the scope of registered nursing practice to address the emotional, psychological and relational implications of living with chronic disease through psychosocial and family interventions. Patients living with chronic kidney disease frequently report poor quality of life and numerous psychosocial issues; however, they do not find that these issues are always adequately addressed. This research was hermeneutic inquiry as guided by Gadamer's philosophy of understanding. Family/psychosocial nursing practices are examined from the perspective of self-reports of Registered Nurses working in acute care nephrology units. Interviews with nurses were conducted throughout 2012. Nurses attribute, or explain, patient and family member behaviour in a variety of ways. These explanations may or may not align with actual patient/family reasons for behaviour. Nurses' explanations influence subsequent nursing practice. While there is some evidence of practices that overcome biased attributions of patient behaviour, the cognitive processes by which nurses develop these explanations are more complex than previously reported in nursing literature. Clinical reasoning and subsequent nursing practice are influenced by how nurses explain patients'/families' behaviour. Exploration of this issue with the support of social cognition literature suggests a need for further research with significant implications for nursing education and practice to improve family/psychosocial interventions. © 2014 John Wiley & Sons Ltd.
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.
Viazis, Nikos; Mantzaris, Gerasimos; Karmiris, Konstantinos; Polymeros, Dimitrios; Kouklakis, George; Maris, Theofanis; Karagiannis, John; Karamanolis, Dimitrios G
The aim of this study was to identify inflammatory bowel disease (IBD) patients' perspectives regarding everyday life issues. From October 2010 till April 2011, 1,181 IBD patients completed an anonymous questionnaire through the internet (827 cases) or at the outpatient clinic of the participating centers (354 cases), aiming to identify: a) the impact of disease on social life, emotional status and work productivity; b) the source of disease information; and c) the level of support from family members and friends. Fifty-five percent of the patients reported that IBD interferes with their social life, while 65% felt stressed, 60% depressed and 19% tired because of it. Disease information (physician/ internet) was reported only by 31%, while 26% admitted not discussing their therapy with their gastroenterologist. Forty percent felt that the health service they receive is not satisfactory, with 76% desiring more gastroenterologists, 67% more outpatient clinics, 49% more dieticians and 42% more psychologists specialized in IBD. IBD interfered with working capacity in 40% of the participants, while 57% needed time off of work (ranging from 1-20 days per year). One of three patients (32%) has not informed his work environment about the disease; however, 88% had the support of their family and friends for coping with it. Greek IBD patients claim that health-related social life, emotional status and work productivity are severely affected by their disease, whereas they complain about lack of information regarding the therapy. These unmet demands call for immediate action by healthcare providers and society.
Rivera-Vega, M Refugio; Chiñas-Lopez, Silvet; Vaca, Ana Luisa Jimenez; Arenas-Sordo, M Luz; Kofman-Alfaro, Susana; Messina-Baas, Olga; Cuevas-Covarrubias, Sergio Alberto
To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND). We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan. Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND. Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.
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…
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.
Full Text Available The three main causes of inflammation and chronic injury in the liver are viral hepatitis, alcohol consumption, and non-alcoholic steatohepatitis, all of which can lead to liver fibrosis, cirrhosis, and hepatocellular carcinoma, which in turn may prompt the need for liver transplant. The interleukin (IL-20 is a subfamily part of the IL-10 family of cytokines that helps the liver respond to damage and disease, they participate in the control of tissue homeostasis, and in the immunological responses developed in this organ. The best-studied member of the family in inflammatory balance of the liver is the IL-22 cytokine, which on the one hand may have a protective role in fibrosis progression but on the other may induce liver tissue susceptibility in hepatocellular carcinoma development. Other members of the family might also carry out this dual function, as some of them share IL receptor subunits and signal through common intracellular pathways. Investigators are starting to consider the potential for targeting IL-20 subfamily members in liver disease. The recently explored role of miRNA in the transcriptional regulation of IL-22 and IL-24 opens the door to promising new approaches for controlling the local immune response and limiting organ injury. The IL-20RA cytokine receptor has also been classified as being under miRNA control in non-alcoholic steatohepatitis. Moreover, researchers have proposed combining anti-inflammatory drugs with IL-22 as a hepatoprotective IL for alcoholic liver disease (ALD treatment, and clinical trials of ILs for managing severe alcoholic-derived liver degeneration are ongoing. In this review, we focus on exploring the role of the IL-20 subfamily of cytokines in viral hepatitis, ALD, non-alcoholic steatohepatitis, and hepatocellular carcinoma, as well as delineating the main strategies explored so far in terms of therapeutic possibilities of the IL-20 subfamily of cytokines in liver disease.
Motesaddi Zaranadi M
Full Text Available Lip pits are among the rarest congenital deformities recorded. Initially reported in 1845, it’s familial occurrence has been reported just once. These developmental anomalies occur either as an isolated defect or in association with other developmental deformities including cleft lip, cleft palate or both. It may be located at the commisures of the lips or in the midline of the lower lip. It is often inherited as an autosomal dominant trait with variable penetrance.Our report of a family in which all of the three children (two girls and a boy and their father wre involved in concert with the latter statement.
Hoffmann Raymond G
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
Gray, Wendy N; Graef, Danielle M; Schuman, Shana S; Janicke, David M; Hommel, Kevin A
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.
Ann Marie Halpenny
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.
Gerkes Erica H
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.
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.
Spann, Stephen J.
PURPOSE 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. METHODS 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. RESULTS 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 to $210,288 total annual compensation) for
Spann, Stephen J
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
Coronary heart disease tends to run in families, and the familial resemblance of major risk factors for the disease was examined among various types of adult family members. Family units were assembled from a total of 4,738 men and women who took part in a cross sectional health survey in four Norwegian municipalities where all inhabitants between 20 and 52 years of age were invited. After adjusting for age and other confounders, correlation coefficients were derived as a measure of the degree of resemblance. Viewed across all types of investigated familial relationships, similarity was found to be stronger for total cholesterol than for high-density lipoprotein cholesterol and triglycerides, and also stronger for systolic than for diastolic blood pressure. Between husbands and wives (3,060 subjects), correlations were small (between 0.02 and 0.06), except for 0.11 for total cholesterol. Lipid and blood pressure correlations ranged from 0.13 to 0.27 for parents and their offspring (471 subjects, p < 0.05) and from 0.11 to 0.22 among siblings (2,166 subjects, p < 0.01). Sibling correlations were consistent across age groups. Furthermore, reports from each individual on daily smoking (yes or no) revealed that husbands and wives had similar habits in 63.5% of all marriages as compared with the expected 49.4% had no smoking similarity at all been present. Smoking concordance was also demonstrated among siblings (p < 0.01). The persistent pattern of lipid and blood pressure aggregation among genetically related individuals from 20 to 52 years of age and the much weaker such similarity between husbands and wives, point towards genes or commonly shared environment at early ages as a major reason why coronary heart disease runs in families
Montenegro Junior,Renan Magalhães; Paula,Francisco José Albuquerque de; Foss,Norma Tiraboshi; Foss,Milton Cesar
CONTEXT: The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of pseudohypoparathyroidism associated with psoriasis. OBJECTIVE: To describe the familial occurrence of this association for the first time. CASE REPORTS: Two siblings with psoriasis associated with pseudohypop...
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.
McClung, Nancy; Glidewell, Jill; Farr, Sherry L
To examine the financial burdens and mental health needs of families of children with special healthcare needs (CSHCN) with congenital heart disease (CHD). Data from the 2009-2010 National Survey of Children with Special Health Care Needs (NS-CSHCN) were used to examine parent-reported financial burdens (out-of-pocket expenses, financial problems, employment impact, caregiving hours) and family members' need for mental health services in families of CSHCN with CHD. Multivariable logistic regression was used to compare financial burdens and family members' need for mental health services among CSHCN with and without CHD. Among CSHCN with CHD, multivariable logistic regression, stratified by age (0-5 and 6-17 years), was used to assess characteristics associated with the outcomes. Overall, families of 89.1% of CSHCN with CHD experienced at least one financial burden and 14.9% needed mental health services due to the child's condition. Compared with CSHCN without CHD, those with CHD had families with a higher prevalence of all financial burdens (adjusted prevalence ratio [aPR] range: 1.4-1.8) and similar family member need for mental health services (aPR = 1.3, 95% CI [1.0, 1.6]). Across both age groups, insurance type, activity limitations, and comorbidities were significantly associated with financial burdens and/or family members' need for mental health services. CSHCN with CHD, compared with those without CHD, lived in families with more financial burdens. Interventions that reduce financial burdens and improve mental health of family members are needed, especially among CSHCN with CHD who are uninsured and have comorbidities or activity limitations. © 2018 Wiley Periodicals, Inc.
Fonseca, Gabriel M; Cantín, Mario
Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. This paper reports on a case of polythelia that is associated with dental anomalies in an Argentine family and discusses suggestions for a thorough dental history and medical consultation to prevent possible pathological conditions or potential malignant transformation of mammary tissues.
Zöller, Bengt; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina
Familial clustering of chronic obstructive pulmonary disease (COPD) is well established, but the familial risk of COPD has not been determined among adoptees. The aim was to determine whether the familial transmission of COPD is related to disease in biological and/or adoptive parents. Historic cohort study. 80,214 (50% females). The Swedish Multi-Generation Register was used to follow all Swedish-born adoptees born in 1932-2004 (n=80,214) between 1 January 1964 and 31 December 2010 for COPD (n=1978). The risk of COPD was estimated in adoptees with at least one biological parent with COPD but no adoptive parent with COPD (n=162) compared with adoptees without a biological or adoptive parent with COPD. The risk of COPD was also determined in adoptees with at least one adoptive parent but no biological parent with COPD (n=110), and in adoptees with both affected biological and adoptive parents (n=162). COPD in adoptees. Adoptees with COPD in at least one biological parent but no adoptive parent were more likely to have COPD than adoptees without a biological or adoptive parent with COPD (standardised incidence ratio, SIR=1.98 (95% CI 1.69 to 2.31)). The familial SIR for adoptees with both a biological parent and an adoptive parent with COPD was 1.68 (95% CI 1.39 to 2.00). Adoptees with at least one adoptive parent with COPD but no biological parent with COPD were not at an increased risk of COPD (SIR=1.12 (95% CI 0.92 to 1.35)). The findings of the study show that the familial transmission of COPD is associated with COPD in biological but not adoptive parents, suggesting that genetic or early life factors are important in the familial transmission of COPD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
The number of reported cases of measles, poliomyelitis, tetanus, diphtheria, and whooping cough for the period of January 1, 1994 to the date of the last report is presented in tabular form by country with a comparison for the same epidemiological period in 1993. The countries included are Bolivia, Colombia, Ecuador, Peru, Venezuela, Argentina, Chile, Paraguay, Uruguay, Brazil, Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, Mexico, Cuba, Haiti, the Dominican Republic, Antigua and Barbuda, the Bahamas, Barbados, Dominica, Grenada, Guyana, Jamaica, Saint Kitts and Nevis, Saint Vincent, Saint Lucia, Suriname, Trinidad and Tobago, Canada, and the US. The figures for measles are given as reported and as confirmed. In some countries, the reported number of cases of measles decreased from 1993 figures (Venezuela 5275 vs. 6060, Paraguay 26 vs. 958, Brazil 272 vs. 958, Canada 30 vs. 38), but, in others, the figure increased from 1993 (Mexico 47 vs. 21, the US 155 vs. 86). There were no reported cases of poliomyelitis for either year in any country. The figures for tetanus are divided into nonneonatal and neonatal. In Brazil the number of nonneonatal cases decreased to 360 from 371 in 1993, and the number of neonatal cases decreased to 28 from 65. In Mexico, nonneonatal cases decreased to 28 from 45, but neonatal cases increased to 23 from 20 in 1993. The number of cases of diphtheria cases in Brazil decreased to 28 from 65 in the same period of 1993. The number of cases of whooping cough decreased to 431 from 1651 in Brazil and to 51 from 70 in Mexico. However, the number of cases in Canada increased to 1047 from 784.
Pereira, Carolina; Miname, Marcio; Makdisse, Marcia; Kalil, Roberto Filho; Santos, Raul D.
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
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.
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: firstname.lastname@example.org [Instituto do Coração HCFMUSP, São Paulo, SP (Brazil); Hospital Israelita Albert Einstein, São Paulo, SP (Brazil)
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.
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
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.
Ros, L.H.; Villacampa, V.M.; Torres, G.M.; Ros, P.R.
Actinomycosis is a chronic suppurative infection with bacteria of the Actinomycetaceae family, characterized by the formation of abundant granular tissue and multiple abscesses. It is a rare entity, and clinical and radiological findings are similar to those in other inflammatory and in neoplastic processes. Actinomycosis should be considered in the differential diagnosis in high-risk patients with predisposing factors, such as alcoholism, poor oral hygiene, maxillofacial trauma, tuberculosis, chronic obstructive pulmonary disease, steroid ingestion or immunodeficiency, and in patients in whom the disease history does not correlate with widespread metastatic involvement. Early diagnosis is important, to prevent disease progression and unnecessary surgery, since the response to drug treatment is very good. We present a case of diffuse actinomycosis involving multiple organs (liver, kidneys, colon, and lungs) that simulated metastatic disease on radiography and computed tomography (CT). (author)
Ros, L.H.; Villacampa, V.M. [Hospital Miguel Servet, Dept. of Radiology, Zaragoza (Spain); Torres, G.M. [Univ. of Florida, Dept. of Radiology, Gainesville, Florida (United States); Ros, P.R. [Harvard Medical School, Brigham and Women' s Hospital, Dept. of Radiology, Boston, Massachusetts (United States)
Actinomycosis is a chronic suppurative infection with bacteria of the Actinomycetaceae family, characterized by the formation of abundant granular tissue and multiple abscesses. It is a rare entity, and clinical and radiological findings are similar to those in other inflammatory and in neoplastic processes. Actinomycosis should be considered in the differential diagnosis in high-risk patients with predisposing factors, such as alcoholism, poor oral hygiene, maxillofacial trauma, tuberculosis, chronic obstructive pulmonary disease, steroid ingestion or immunodeficiency, and in patients in whom the disease history does not correlate with widespread metastatic involvement. Early diagnosis is important, to prevent disease progression and unnecessary surgery, since the response to drug treatment is very good. We present a case of diffuse actinomycosis involving multiple organs (liver, kidneys, colon, and lungs) that simulated metastatic disease on radiography and computed tomography (CT). (author)
Barker, D H; Driscoll, K A; Modi, A C; Light, M J; Quittner, A L
Successful management of a complex disease, such as cystic fibrosis (CF), requires support from family and friends; however, few studies have examined social support in adolescents with CF. Twenty-four adolescents were interviewed about the support they receive from family and friends. Interviews were transcribed, coded and analysed to determine the types, frequency and perceived supportiveness of specific behaviours. Both family and friends provided treatment-related support to adolescents with CF. Family provided more tangible support and friends provided more relational support. Adolescents also reported that the manner, timing and context of support behaviours influenced their perceptions of the behaviours' supportiveness. A subset of adolescents (17%) chose not to disclose their diagnosis to their friends. The provision of support appears to be distinct from adolescent's perception of support and there may be some behaviours, such as treatment reminders, that are important to disease management but viewed as less supportive by adolescents. Facilitating increased social support holds the promise of improving disease management during adolescents, but more work is need to understand which aspects of support are related to management outcomes. © 2011 Blackwell Publishing Ltd.
Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen
Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.
Carlos Guilherme Gaelzer Porciuncula
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.
Goodrich, Kristopher M.; Selig, James P.; Trahan, Don P., Jr.
Researchers explored the factor structure of the Self-Report Family Inventory with a sample of heterosexual parents who have a son or daughter who self-identifies as lesbian, gay, or bisexual. Results suggest that a two-factor solution is appropriate. Research and clinical implications are offered. (Contains 1 figure and 2 tables.)
Garrett, Aline M.
The report describes a research project which investigated the impact of change on new employees, their families, and the community when a new type of industry locates in a small semi-rural Louisiana community. The subjects of the research were 218 women (144 black and 74 white) employed in the new clothing manufacturing industry and in three…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1997 dollars using the Consumer Price Index. Data and…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1999 dollars using the Consumer Price Index. Data and…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 1998 dollars using the Consumer Price Index. Data and…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2000 dollars using the Consumer Price Index. Data and…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2001 dollars using the Consumer Price Index. Data and…
Since 1960, the U.S. Department of Agriculture has provided estimates of expenditures on children from birth through age 17. This technical report presents the most recent estimates for husband-wife and single-parent families, using data from the 1990-92 Consumer Expenditure Survey, updated to 2002 dollars using the Consumer Price Index. Data and…
Qu, T; Wang, B; Fang, K
Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.
Cairo, Mitchell S; Rocha, Vanderson; Gluckman, Eliane; Hale, Gregory; Wagner, John
Allogeneic stem cell transplantation has been demonstrated to be curative in a wide variety of pediatric malignant and nonmalignant diseases, and can be traced back over 50 years ago to the original report of Thomas et al. HLA matched sibling donors have been the gold standard for pediatric recipients requiring allogeneic donors for both nonmalignant and malignant conditions. However, only 25% of potential pediatric recipients possesses an HLA-matched sibling donor, and the frequency is even less in those with genetic nonmalignant conditions because of genetically affected other siblings within the family. Therefore, 75% to 90% of potential pediatric recipients require alternative allogeneic donor cells for treatment of their underlying conditions. Potential alternative allogeneic donor sources include unrelated cord blood donors, unrelated adult donors, and haploidentical family donors. In this article we review the experience of both unrelated cord blood donor and haploidentical family donor transplants in selected pediatric malignant and nonmalignant conditions.
Fahed, Akl C; Shibbani, Kamel; Andary, Rabih R; Arabi, Mariam T; Habib, Robert H; Nguyen, Denis D; Haddad, Fady F; Moubarak, Elie; Nemer, Georges; Azar, Sami T; Bitar, Fadi F
Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation. Older patients were more likely to have aortic valve calcification (>21 versus ≤21 years: 59% versus 12.5%; p = 0.01) despite lower LDL levels at the time of the study (385 versus 513 mg/dL; p = 0.016). Patients with valvulopathy were older and had comparable LDL levels and a lower carotid intima-media thickness. Our data suggests that, in homozygous FH patients, valvulopathy (1) is present across a wide age spectrum and LDL levels and (2) is less likely to be influenced by lipid-lowering treatment. Echocardiographic studies that focused on aortic root thickening and stenosis and regurgitation are thus likely an effective modality for serial follow-up of subclinical valvular heart disease.
Akl C. Fahed
Full Text Available Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH. Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation. Older patients were more likely to have aortic valve calcification (>21 versus ≤21 years: 59% versus 12.5%; p = 0.01 despite lower LDL levels at the time of the study (385 versus 513 mg/dL; p = 0.016. Patients with valvulopathy were older and had comparable LDL levels and a lower carotid intima-media thickness. Our data suggests that, in homozygous FH patients, valvulopathy (1 is present across a wide age spectrum and LDL levels and (2 is less likely to be influenced by lipid-lowering treatment. Echocardiographic studies that focused on aortic root thickening and stenosis and regurgitation are thus likely an effective modality for serial follow-up of subclinical valvular heart disease.
M. F. Feitosa
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.
Mundal, Liv; Veierød, Marit B; Halvorsen, Thomas; Holven, Kirsten B; Ose, Leiv; Iversen, Per Ole; Tell, Grethe S; Leren, Trond P; Retterstøl, Kjetil
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.
Full Text Available Hydatid disease is a parasitic disease, which is caused by echinococcus and often located in the liver and lung but occasionally found in other organs. Only one previous study reported localization in the mesorectum. In this case report, we present a 27-year-old male, as a second case in the literature, with a hydatid cyst located in the mesorectum. Abdominopelvic computed tomography revealed cystic masses localized in the mesorectum with no pulmonary or hepatic involvement. Preoperative cyst hydatid IgG (1/1000 was positive, and the preliminary diagnosis was hydatid disease. The patient underwent partial cystectomy. Macroscopic and microscopic examination of the specimens confirmed the hydatid cyst. This case report demonstrates that hydatid disease should be taken into consideration in the differential diagnosis of a cystic mass in any anatomic localization, especially in endemic areas. J Clin Exp Invest 2015; 6 (1: 75-77
Giampaoli, S.; Oyen, H. van; Devillé, W.; Verschuuren, M.
Blind spots in European health information On June 6th 2008 the European Commission has published the Major and Chronic Diseases Report 2007. This report describes the state of the art of health information in Europe on 13 prevalent chronic conditions. Large differences between the Member States of
Li, Li; Tuan, Nguyen Anh; Liang, Li-Jung; Lin, Chunqing; Farmer, Shu C.; Flore, Martin
Background This article explores the association of people who inject drugs and their family members in terms of mental health and family relations. The objective was to understand the family context and its impact on people who inject drugs in a family-oriented culture in Vietnam. Methods Cross-sectional assessment data were gathered from 83 people who inject drugs and 83 of their family members recruited from four communes in Phú Thọ province, Vietnam. Depressive symptoms and family relations were measured for both people who inject drugs and family members. Internalized shame and drug-using behavior were reported by people who inject drugs, and caregiver burden was reported by family members. Results We found that higher level of drug using behavior of people who inject drugs was significantly associated with higher depressive symptoms and lower family relations reported by themselves as well as their family members. Family relations reported by people who inject drugs and their family members were positively correlated. Conclusion The findings highlight the need for interventions that address psychological distress and the related challenges faced by family members of people who inject drugs. The article has policy implication which concludes with an argument for developing strategies that enhance the role of families in supporting behavioral change of people who inject drugs. PMID:23910167
Tselebis, A; Bratis, D; Pachi, A; Moussas, G; Karkanias, A; Harikiopoulou, M; Theodorakopoulou, E; Kosmas, E; Ilias, I; Siafakas, N; Vgontzas, A; Tzanakis, N
Chronic Obstructive Pulmonary Disease (COPD) is mainly related to smoking habit and is characterized by airflow limitation that is not fully reversible. The airflow limitation is usually both progressive and associated with an abnormal inflammatory response of the lungs to noxious particles or gases. Worldwide and in Greece, COPD constitutes a major epidemiological issue. Incidence of depression and anxiety is high in the COPD population. Most studies on depression and anxiety in COPD deal with factors that are positively correlated with both of these comorbidities. The aim of our study was to assess whether two variables, sense of coherence (SOC) and perception of family support (FS), are negatively correlated with depressive and anxiety symptoms in outpatients with COPD. According to Aaron Antonovsky, sense of coherence refers to the ability of individuals to make sense of and manage events. Studies in other diseases suggest that sense of family support has a significant impact on the course and outcome of the disease, yet a limited number of reports across literature addresses the role of family support in COPD patients. In our present study one hundred twenty two (98 men and 24 women) outpatients with pure COPD were included. Age and years of education were recorded. Severity of COPD was assessed with spirometry before and after bronchodilation. All patients replied to self- administered questionnaires on depression (Beck Depression Inventory, BDI), anxiety (Spielberger State-Trait Anxiety Scale, STAI), family support (Family Support Scale, FSS-13) and sense of coherence (Sense of Coherence Scale, SOC). According to our results the mean BDI depression score was 11.65 (SD 7.35), mean trait anxiety score was 40.69 (SD 11.19), mean SOC score was 54.62 (SD 7.40) and mean FS score was 64.58 (SD 11.63). Women patients had higher anxiety scores and lower sense of family support compared to men. Significant negative correlations were evidenced between depression and
Pfeiffer Ronald F
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
Pun, Sher Bahadur; Agrawal, Sumit; Jha, Santoshananda; Bhandari, Lila Nath; Chalise, Bimal Sharma; Mishra, Abadhesh; Shah, Rajesh
Lyme disease is a tick-borne illness caused by the spirochete Borrelia burgdorferi and is widely reported in the USA, Central Europe, South East Asia and Latin America. Until recently, no scientific report regarding Lyme disease in Nepal had been published. A 32-year-old, previously healthy female visited the hospital with a history of joint pains, fatigue, neck stiffness, tingling sensation and headache. She was initially treated for typhoid fever, brucellosis and malaria, but did not show significant improvement. Doxycycline was prescribed empirically for 3 weeks for the treatment of suspected tick-borne illness. A two-tiered immunoglobulin laboratory testing confirmed Borrelia burgdorferi . She developed post-treatment Lyme disease syndrome after completion of antibiotic therapy. To the best of our knowledge, this is the first report of Lyme disease in Nepal and probably the first documented case of post-treatment Lyme disease syndrome in Asia. Lyme disease might have been overlooked in Nepal and, therefore, patients having clinical signs and symptoms similar to Lyme disease should not be disregarded in differential diagnosis.
Pettenati, M J; Rao, P N; Weaver, R G; Thomas, I T; McMahan, M R
We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.
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.
Akram, Z; Abduljabbar, T; Hanif, A; Khan, A; Vohra, F
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.
Souza, Luis Ronan Marques Ferreira de; Nogueira Filho, Jairo Ramos; Ferme, Andrea Langone; D'Ippolito, Giuseppe; Szejnfeld, Jacob; Goldman, Suzan Menasce
Hypertrophic gastritis was described by Menetrier in 1888, and can be divided into two anatomical categories: occurrence of polyps and gastric mucosa hypertrophy. Menetrier's disease of the stomach affects mostly adults and occurs less frequently in children (less than 100 cases in the literature). The authors report the imaging findings in a child with Menetrier's disease, and present a brie review of the literature. (author)
Full Text Available Mutations in the genes low-density lipoprotein (LDL receptor-related protein-6 (LRP6 and myocyte enhancer factor 2A (MEF2A were reported in families with coronary artery disease (CAD. We intend to determine the mutational spectrum of these genes among hyperlipidemic and normolipidemic CAD families. Forty probands with early-onset CAD were recruited from 19 hyperlipidemic and 21 normolipidemic Chinese families. We sequenced all exons and intron-exon boundaries of LRP6 and MEF2A, and found a novel heterozygous variant in LRP6 from a proband with normolipidemic CAD. This variant led to a substitution of histidine to tyrosine (Y418H in an evolutionarily conserved domain YWTD in exon 6 and was not found in 1025 unrelated healthy individuals. Co-segregated with CAD in the affected family, LRP6Y418H significantly debilitated the Wnt3a-associated signaling pathway, suppressed endothelial cell proliferation and migration, and decreased anti-apoptotic ability. However, it exhibited no influences on low-density lipoprotein cholesterol uptake. Thus, mutation Y418H in LRP6 likely contributes to normolipidemic familial CAD via impairing endothelial cell functions and weakening the Wnt3a signaling pathway.
Smits, P. B. A.; de Boer, A. G. E. M.; Kuijer, P. P. F. M.; Braam, I.; Spreeuwers, D.; Lenderink, A. F.; Verbeek, J. H. A. M.; van Dijk, F. J. H.
Background: Occupational diseases are under reported. Targeted education of occupational physicians (OPs) may improve their rate of reporting occupational diseases. Aim: To study the effectiveness of an active multifaceted workshop aimed at improving OPs' reporting of occupational diseases. Methods:
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.
Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S
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'scommunicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family 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.
F. E. Mahjoub
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.
Reiterová, Jana; Štekrová, Jitka; Merta, Miroslav; Kotlas, Jaroslav; Elišáková, Veronika; Lněnička, Petr; Korabečná, Marie; Kohoutová, Milada; Tesař, Vladimír
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD highlights a role for genetic background. Here we report a case of ADPKD family initially appearing unlinked to the PKD1 or PKD2 loci and the influence of mosaicism and hypomorphic allele on the variability of the clinical course of the disease. A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the early treatment of mild hypertension. There was found by mutational analysis of PKD genes that the severe clinical course was caused by PKD1 gene frameshifting mutation inherited from his father and mildly affected grandmother in combination with inherited hypomorphic PKD1 allele with described missense mutation (p.Thr2250Met) from his clinically healthy mother. The sister with two cysts and with PKD1 hypomorphic allele became the kidney donor to her severely affected brother. We present the first case of ADPKD with the influence of mosaicism and hypomorphic allele of the PKD1 gene on clinical course of ADPKD in one family. Moreover, this report illustrates the role of molecular genetic testing in assessing young related kidney donors for patients with ADPKD.
Rosa, Francesca; Bagnasco, Annamaria; Aleo, Giuseppe; Kendall, Sally; Sasso, Loredana
This paper was a report of the synthesis of evidence on examining the origins and definitions of the concept of resilience, investigating its application in chronic illness management and exploring its utility as a means of understanding family caregiving of adults with Chronic Obstructive Pulmonary Disease. Resilience is a concept that is becoming relevant to understanding how individuals and families live with illness, especially long-term conditions. Caregivers of adults with Chronic Obstructive Pulmonary Disease must be able to respond to exacerbations of the condition and may themselves experience cognitive imbalances. Yet, resilience as a way of understanding family caregiving of adults with COPD is little explored. Literature review - integrative review. CINAHL, PubMed, Google Scholar and EBSCO were searched between 1989-2015. The principles of rapid evidence assessment were followed. We identified 376 relevant papers: 20 papers reported the presence of the concept of resilience in family caregivers of chronic diseases patients but only 12 papers reported the presence of the concept of resilience in caregivers of Chronic Obstructive Pulmonary Disease patients and have been included in the synthesis. The term resilience in Chronic Obstructive Pulmonary Disease caregiving is most often understood using a deficit model of health.
Cabré, Eduard; Mañosa, Míriam; García-Sánchez, Valle; Gutiérrez, Ana; Ricart, Elena; Esteve, Maria; Guardiola, Jordi; Aguas, Mariam; Merino, Olga; Ponferrada, Angel; Gisbert, Javier P; Garcia-Planella, Esther; Ceña, Gloria; Cabriada, José L; Montoro, Miguel; Domènech, Eugeni
Disease outcome has been found to be poorer in familial inflammatory bowel disease (IBD) than in sporadic forms, but assessment of phenotypic concordance in familial IBD provided controversial results. We assessed the concordance for disease type and phenotypic features in IBD families. Patients with familial IBD were identified from the IBD Spanish database ENEIDA. Families in whom at least two members were in the database were selected for concordance analysis (κ index). Concordance for type of IBD [Crohn's disease (CD) vs. ulcerative colitis (UC)], as well as for disease extent, localization and behaviour, perianal disease, extraintestinal manifestations, and indicators of severe disease (i.e., need for immunosuppressors, biological agents, and surgery) for those pairs concordant for IBD type, were analyzed. 798 out of 11,905 IBD patients (7%) in ENEIDA had familial history of IBD. Complete data of 107 families (231 patients and 144 consanguineous pairs) were available for concordance analyses. The youngest members of the pairs were diagnosed with IBD at a significantly younger age (p<0.001) than the oldest ones. Seventy-six percent of pairs matched up for the IBD type (κ=0.58; 95%CI: 0.42-0.73, moderate concordance). There was no relevant concordance for any of the phenotypic items assessed in both diseases. Familial IBD is associated with diagnostic anticipation in younger individuals. Familial history does not allow predicting any phenotypic feature other than IBD type. Copyright © 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved.
Manders, Willeke A; Cook, William L; Oud, Johan H L; Scholte, Ron H J; Janssens, Jan M A M; De Bruyn, Eric E J
This article introduces an approach to testing the level validity of family assessment instruments (i.e., whether a family instrument measures family functioning at the level of the system it purports to assess). Two parents and 2 adolescents in 69 families rated the warmth in each of their family relationships and in the family as a whole. Family members' ratings of whole-family warmth assessed family functioning not only at the family level (i.e., characteristics of the family as a whole) but also at the individual level of analysis (i.e., characteristics of family members as raters), indicating a lack of level validity. Evidence was provided for the level validity of a latent variable based on family members' ratings of whole-family warmth. The findings underscore the importance of assessing the level validity of individual ratings of whole-family functioning.
Burke, Lora A
The interplay of genetic and environmental factors places first-degree relatives of individuals with premature coronary heart disease at greater risk of developing the disease than the general population. Disease processes, such as dyslipidemia, hypertension, and glucose and insulin metabolism, and lifestyle habits, such as eating and exercise patterns, as well as socioeconomic status aggregate in families with coronary heart disease. The degree of risk associated with a family history varies with the degree of relationship and the age at onset of disease. All individuals with a family history of premature heart disease should have a thorough coronary risk assessment performed, which can be initiated in an office visit. Absolute risk for coronary heart disease determination will predict the intensity of preventive interventions. This article reviews the components of risk determination and primary prevention in individuals with a strong family history of coronary heart disease.
Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW
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
Jaqueline Scholz Issa
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.
Beeldman, Emma; van der Kooi, Anneke J.; de Visser, Marianne; van Maarle, Merel C.; van Ruissen, Fred; Baas, Frank
Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin
Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.
Objective This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. Methods 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 6 month follow-up, adjusting for age, site and practice clustering. Results A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (psfamily 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. Conclusion 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. PMID:25901453
Golics, Catherine Jane; Basra, Mohammad Khurshid Azam; Finlay, Andrew Yule; Salek, Sam
Most existing health-related quality of life research concerns the impact of disease on patients. However, in several medical specialties including dermatology, oncology, and physical and mental disability, studies have been carried out investigating the impact of disease on the lives of families of patients. The aim of this paper is to review the literature which relates to the impact of disease on family members of patients. The OVIDSP Medline was selected as the primary database, Searches were limited to sources published in English. 158 papers were identified for review. The definition of "family" varied across the literature, and a broad definition was accepted in this review. This review shows that a wide variety of aspects of family members' lives can be affected, including emotional, financial, family relationships, education and work, leisure time, and social activities. Many of these themes are linked to one another, with themes including financial impact and social impact being linked to emotional impact. Some positive aspects were also identified from the literature, including family relationships growing stronger. Several instruments exist to measure the impact of illness on the family, and most are disease or specialty- specific. The impact of disease on families of patients is often unrecognised and underestimated. Taking into account the quality of life of families as well as patients can offer the clinician a unique insight into issues such as family relationships and the effect of treatment decisions on the patient's close social group of partner and family.
Ashida, Sato; Kaphingst, Kimberly A.; Goodman, Melody; Schafer, Ellen J.
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…
Ahmed Ali, Raheel; McKay, Scott
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 ...
Gurusidheshwar M Wali
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.
... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Family History and Diamond..., discussion, and evaluation of ``Family History and Diamond Blackfan Anemia, DD11-010, initial review...
Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina
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....
Prichard, I; Lee, A; Hutchinson, A D; Wilson, C
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.
Lee, Yong Il; Lee, Hae Kyung; Hong, Hyung Sook; Kwon, Kui Hyang; Choi, Deuk Lin; Kim, Jae Joon
Multiple large bowel polyps are the hallmark of familial adenomatous polyposis (FAP), and many progress to colorectal cancer. Desmoid tumors are more common in patients with FAP than in other people, occurring, particulary, in those who have previously undergone prophylatic total colectomy. In such patients, desmoid tumors are a common cause of death. In an FAP patient without extracolic menifestation, who has undergone prophylatic surgery, multifocal desmoid tumors occur periodically. We report the serial radiologic findings of progressive desmoid tumors in FAP, drawing attention to the related findings of previous research
Lee, Yong Il; Lee, Hae Kyung; Hong, Hyung Sook; Kwon, Kui Hyang; Choi, Deuk Lin; Kim, Jae Joon [Soonchunhyang Univ. College of Medicine, A-san (Korea, Republic of)
Multiple large bowel polyps are the hallmark of familial adenomatous polyposis (FAP), and many progress to colorectal cancer. Desmoid tumors are more common in patients with FAP than in other people, occurring, particulary, in those who have previously undergone prophylatic total colectomy. In such patients, desmoid tumors are a common cause of death. In an FAP patient without extracolic menifestation, who has undergone prophylatic surgery, multifocal desmoid tumors occur periodically. We report the serial radiologic findings of progressive desmoid tumors in FAP, drawing attention to the related findings of previous research.
Gómez-Tortosa, Estrella; Barquero, M Sagrario; Barón, Manuel; Sainz, M Jose; Manzano, Sagrario; Payno, Maria; Ros, Raquel; Almaraz, Carmen; Gómez-Garré, Pilar; Jiménez-Escrig, Adriano
Variability of age at onset (AO) of Alzheimer disease (AD) among members of the same family is important as a biological clue and because of its clinical effects. To evaluate which clinical variables influence the discrepancy in AO among affected relatives with familial AD. Clinical genetic project of Spanish kindred with AD conducted by 4 academic hospitals in Madrid, Spain. Age at onset of AD in 162 families and discrepancy in AO in intragenerational and intergenerational affected pairs were analyzed in relation to age, sex, maternal or paternal transmission, pattern of inheritance, and apolipoprotein E genotype. Maternal transmission of AD was significantly more frequent than paternal transmission (P patient was 65 years old. Discrepancy in AO among siblings was within 5 years in 44% of the families, 6 to 10 years in 29%, and more than 10 years in 27% (range, 0-22). This discrepancy was independent of the sex of the sibling pairs and was significantly lower with maternal transmission of AD (P = .02). Segregation analysis showed no differences in the inheritance pattern between families with low (5 years) AO discrepancy. Age at onset in carriers of the apolipoprotein E epsilon4 allele was slightly younger. However, among siblings, an extra apolipoprotein E epsilon4 allele was not consistently associated with earlier onset of AD. Eighty percent of patients, independent of sex or mode of transmission, were already affected at their parents' reported AO. There is a wide discrepancy in AO in affected siblings that is not clearly explained by a single clinical variable or apolipoprotein E genotype. The interaction of many factors probably determines AO in each affected individual. However, maternal transmission of AD seems to result in a similar AO in offspring, and the risk of developing dementia after the parent's reported AO decreases significantly.
Fiorentini, Diana; Zambonin, Laura; Dalla Sega, Francesco Vieceli; Hrelia, Silvana
Polyphenols are bioactive molecules widely distributed in fruits, vegetables, cereals, and beverages. Polyphenols in food sources are extensively studied for their role in the maintenance of human health and in the protection against development of chronic/degenerative diseases. Polyphenols act mainly as antioxidant molecules, protecting cell constituents against oxidative damage. The enormous number of polyphenolic compounds leads to huge different mechanisms of action not fully understood. Recently, some evidence is emerging about the role of polyphenols, such as curcumin, pinocembrin, resveratrol, and quercetin, in modulating the activity of some aquaporin (AQP) isoforms. AQPs are integral, small hydrophobic water channel proteins, extensively expressed in many organs and tissues, whose major function is to facilitate the transport of water or glycerol over cell plasma membranes. Here we summarize AQP physiological functions and report emerging evidence on the implication of these proteins in a number of pathophysiological processes. In particular, this review offers an overview about the role of AQPs in brain, eye, skin diseases, and metabolic syndrome, focusing on the ability of polyphenols to modulate AQP expression. This original analysis can contribute to elucidating some peculiar effects exerted by polyphenols and can lead to the development of an innovative potential preventive/therapeutic strategy.
Full Text Available Polyphenols are bioactive molecules widely distributed in fruits, vegetables, cereals, and beverages. Polyphenols in food sources are extensively studied for their role in the maintenance of human health and in the protection against development of chronic/degenerative diseases. Polyphenols act mainly as antioxidant molecules, protecting cell constituents against oxidative damage. The enormous number of polyphenolic compounds leads to huge different mechanisms of action not fully understood. Recently, some evidence is emerging about the role of polyphenols, such as curcumin, pinocembrin, resveratrol, and quercetin, in modulating the activity of some aquaporin (AQP isoforms. AQPs are integral, small hydrophobic water channel proteins, extensively expressed in many organs and tissues, whose major function is to facilitate the transport of water or glycerol over cell plasma membranes. Here we summarize AQP physiological functions and report emerging evidence on the implication of these proteins in a number of pathophysiological processes. In particular, this review offers an overview about the role of AQPs in brain, eye, skin diseases, and metabolic syndrome, focusing on the ability of polyphenols to modulate AQP expression. This original analysis can contribute to elucidating some peculiar effects exerted by polyphenols and can lead to the development of an innovative potential preventive/therapeutic strategy.
Brett, Francesca M; Henson, Craig; Staunton, Hugh
Familial diffuse Lewy body disease (DLBD) is rare and not yet associated with a defect in the synuclein gene. In the differential diagnosis of the parkinsonian syndromes, defects in vertical gaze tend to be identified with progressive supranuclear palsy. False-positive diagnosis of progressive supranuclear palsy can occur, and defects in vertical gaze have been reported in DLBD, although so far a pure vertical gaze palsy associated with pathological abnormalities in the substrate for vertical gaze has not been described. To report the clinical and pathological findings in 2 siblings with DLBD, and to relate the distribution of the pathological abnormalities in the brainstem to centers for vertical gaze. For several years, 2 Irish siblings experienced a progressive parkinsonism-dementia complex associated in one with a defect in vertical gaze and in both with visual hallucinations. In both patients, results of pathological examination revealed (1) Lewy bodies positive for ubiquitin and alpha-synuclein together with cell loss and gliosis in the substantia nigra, locus ceruleus, and neocortex; and (2) similar findings in the rostral interstitial nucleus of the medial longitudinal fasciculus, the posterior commissure, and the interstitial nucleus of Cajal (substrates for vertical gaze). Familial DLBD (not shown to be genetically as distinct from environmentally transmitted) has been shown to exist in an Irish family. Caution should be enjoined in the interpretation of defects in vertical gaze in the differential diagnosis of the parkinsonian syndromes.
Hancock, Dana B; Martin, Eden R; Stajich, Jeffrey M; Jewett, Rita; Stacy, Mark A; Scott, Burton L; Vance, Jeffery M; Scott, William K
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 (Pcoffee drinking was inversely associated with PD (test for trend P = .05). Increasing dosage (trend P = .009) and intensity (trend P = .01) of total caffeine consumption were also inversely associated, with high dosage presenting a significant inverse association for PD (odds ratio = 0.58; 95% confidence interval, 0.34-0.99). There were no significant associations between nonsteroidal anti-inflammatory drugs and PD. Inverse associations of smoking and caffeine were corroborated using families with PD, thus emphasizing smoking and caffeine as important covariates to consider in genetic studies of PD.
Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun
Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders. We conducted an extensive clinical examination of the proband and performed a computed tomography (CT) scan of his brain. Additionally, we performed ophthalmic examinations, haplotype analyses, and NDP DNA sequencing for 26 individuals from the proband's extended family. The proband's computed tomography scan, in which the fifth ventricle could be observed, indicated cerebellar atrophy. Genome scans and haplotype analyses traced the disease to chromosome Xp21.1-p11.22. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region. Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.
Frohlich, J; Godolphin, W J; Reeve, C E; Evelyn, K A
A 16-year-old male (S.F.) and his 21-year-old sister (D.H.) from a large family of Italian and Swedish descent had virtually identical lipoprotein pattern and complete absence of LCAT activity. Both had typical corneal opacities and mild anemia with target cells. S.F., but not D.H., presented with proteinuria, which has increased over three years of follow-up. His kidney biopsy revealed lipid deposits in the glomerular basement membrane. Ten relatives in 4 generations had normal LCAT activity and/or lipoprotein pattern. The patients and their relatives had haptoglobin type 2. Factors that might influence the different clinical presentation in our patients (previous renal disease, diet, abnormal lipoproteins), prognosis, and treatment (diet, enzyme replacement, cholestyramine) are discussed.
Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru
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. (author)
Bayersdorfer, Florian; Voigt, Aaron; Schneuwly, Stephan; Botella, José A
Parkinson's disease has been found to be caused by both, genetic and environmental factors. Despite the diversity of causes involved, a convergent pathogenic mechanism might underlie the special vulnerability of dopaminergic neurons in different forms of Parkinsonism. In recent years, a number of reports have proposed dopamine as a common player responsible in the loss of dopaminergic neurons independent of its etiology. Using RNAi lines we were able to generate flies with drastically reduced dopamine levels in the dopaminergic neurons. Combining these flies with a chemically induced Parkinson model (rotenone) and a familial form of Parkinson (mutant alpha-synuclein) we were able to show a strong reduction of neurotoxicity and a protection of the dopaminergic neurons when cellular dopamine levels were reduced. These results show that dopamine homeostasis plays a central role for the susceptibility of dopaminergic neurons to environmental and genetic factors in in vivo models of Parkinson disease. (c) 2010 Elsevier Inc. All rights reserved.
Kitamura, Junichi; Tsuruta, Kazuhito; Yamamura, Yoshinori; Kurihara, Teruyuki; Matsukura, Shigeru
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.
Hulse, Nathan C; Wood, Grant M; Haug, Peter J; Williams, Marc S
The family health history has long been recognized as an effective way of understanding individuals' susceptibility to familial disease; yet electronic tools to support the capture and use of these data have been characterized as inadequate. As part of an ongoing effort to build patient-facing tools for entering detailed family health histories, we have compiled a set of concepts specific to familial disease using multi-source sampling. These concepts were abstracted by analyzing family health history data patterns in our enterprise data warehouse, collection patterns of consumer personal health records, analyses from the local state health department, a healthcare data dictionary, and concepts derived from genetic-oriented consumer education materials. Collectively, these sources yielded a set of more than 500 unique disease concepts, represented by more than 2500 synonyms for supporting patients in entering coded family health histories. We expect that these concepts will be useful in providing meaningful data and education resources for patients and providers alike.
Mei, Libin; Huang, Yanru; Pan, Qian; Liang, Desheng; Wu, Lingqian
The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features. Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.
Graff, J Carolyn; Hankins, Jane S; Hardy, Belinda T; Hall, Heather R; Roberts, Ruth J; Neely-Barnes, Susan L
Communication within families of children with sickle cell disease is important yet has not been adequately investigated. Focus group interviews were conducted with parents of children with sickle cell disease to explore parent-sibling communication about sickle cell disease. Communication was influenced by attributes and behaviors of the parent, the child with sickle cell disease, and the sibling; extended family, neighbors, friends, and church members or social networks; and available, accessible resources related to the child's health, child's school, and parent employment. Outcomes that influenced and were influenced by factors within and outside the parent-sibling dyad and nuclear family included parent satisfaction, parent roles, family intactness, and status attainment. These findings support previous research with African-American families and expand our views of the importance of educating parents, family members, and others about sickle cell disease. The findings suggest a need to explore sibling perception of this communication, parent and sibling perception of the impact of frequent hospitalizations and clinic visits on the sibling and family, and variations within families of children with sickle cell disease.
Appel, S; Chapman, J; Cohen, O S; Rosenmann, H; Nitsan, Z; Blatt, I
Although seizures (other than myoclonus) are frequently reported in Creutzfeldt-Jakob disease (CJD), their frequency, clinical manifestations, and effect on the disease course is unknown. To characterize the frequency of seizures in E200K familial and sporadic CJD, to describe its semiology, EEG and MRI findings. In this retrospective study, we reviewed all patients with CJD who were seen in the Sheba Medical Center between the years 2003-2012 and underwent clinical evaluation, genetic testing, EEG and MRI studies. The diagnosis of seizures was carried out based on documentation of episodes consistent with seizures or episode of unresponsiveness correlated with ictal activity in EEG. Sixty-four probable patients with CJD were included in the study, 57 (89%) with E200K familial (fCJD) and 7 (11%) with sporadic (sCJD). Seizures occurred in 8 patients: 3 of 7 (43%) in patients with sCJD compared to 5/57 (9%) in patients with E200K fCJD (P = 0.04, chi-square test). Two of E200K fCJD patients with seizures had other non-prion etiologies for seizures (brain metastasis, known history of temporal lobe epilepsy which started 44 years before the diagnosis of CJD). Seizures occurred late in the course of the disease with an average of 12 days between the onset of seizures and death. Seizures in E200K fCJD were infrequent and occurred late in the disease course. This difference suggests that E200K fCJD represents a separate subtype of the disease with distinct clinical characteristics. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Thonberg, Håkan; Chiang, Huei-Hsin; Lilius, Lena; Forsell, Charlotte; Lindström, Anna-Karin; Johansson, Charlotte; Björkström, Jenny; Thordardottir, Steinunn; Sleegers, Kristel; Van Broeckhoven, Christine; Rönnbäck, Annica; Graff, Caroline
Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.
Jaffery, Jonathan B; Jacobson, Lynn M; Goldstein, Kenneth M; Pribble, James M
Local television is the primary news source for the majority of Americans. This study aims to describe how local news reports on kidney disease. Using our searchable database of health-related late local news segments from 2002, we identified stories with the key words kidney, hypertension, blood pressure, or diabetes. This database is a representative sample of the late local news on 122 stations in the 50 largest US media markets, comprising 60% of the population. The content of each identified story was reviewed to determine whether it mentioned: (1) chronic kidney disease (CKD), (2) screening for kidney disease, or (3) kidney disease as a potential complication (for blood pressure- or diabetes-related stories). Only 2 of 1,799 database news stories (0.11%) included "kidney" as a summary key word; neither referred to CKD, screening, or complications of other diseases. Of 19 stories about hypertension or blood pressure (1.06% of all stories) and the 14 stories about diabetes (0.78% of all stories), none mentioned these criteria. Despite efforts to increase public awareness of and screening for CKD, local television news (the most important news source for a majority of Americans) did little to help achieve these goals. Further work will be needed to confirm whether this paucity of coverage varies over time and determine why so little attention is given to CKD. Educating physicians and public relations personnel who advocate for kidney disease about journalists' needs may be an important step to help advance public awareness of CKD.
Fernandez, E; La Vecchia, C; D'Avanzo, B; Negri, E; Franceschi, S
The relationship between lifestyle factors, past medical conditions, daily meal frequency, diet and the risk of 'familial' colorectal cancer has been analysed using data from a case-control study conducted in northern Italy. A total of 1584 colorectal cancer patients and 2879 control subjects were admitted to a network of hospitals in the Greater Milan area and the Pordenone province. The subjects included for analysis were the 112 cases and the 108 control subjects who reported a family history of colorectal cancer in first-degree relatives. Colorectal cancer cases and control subjects with family history were similarly distributed according to sex, age, marital status, years of schooling and social class. Familial colorectal cancer was associated with meal frequency, medical history of diabetes (relative risk, RR = 4.6) and cholelithiasis (RR = 5.2). Significant positive trends of increasing risk with more frequent consumption were observed for pasta (RR = 2.5, for the highest vs the lowest intake tertile), pastries (RR = 2.4), red meat (RR = 2.9), canned meat (RR = 1.9), cheese (RR = 3.5) and butter (RR = 1.9). Significant inverse associations and trends in risk were observed for consumption of poultry (RR = 0.4), tomatoes (RR = 0.2), peppers (RR = 0.3) and lettuce (RR = 0.3). Significant inverse trends in risk with increasing consumption for beta-carotene and ascorbic acid were observed (RR = 0.5 and 0.4 respectively, highest vs lowest intake tertile). These results suggest that risk factors for subjects with a family history of colorectal cancer in first-degree relatives are not appreciably different from recognized risk factors of the disease in the general population.
Mochari-Greenberger, Heidi; Mosca, Lori
To determine whether caregiver burdens are associated with lifestyle behaviors 1 year following the hospitalization of a family member with cardiovascular disease (CVD). Prospective follow-up study of National Heart Lung and Blood Institute sponsored Family Intervention Trial for Heart Health participants. Hospital-based recruitment/baseline visit with 1-year follow-up. Family members of hospitalized CVD patients (N = 423; 67% female; 36% racial/ethnic minority; mean age 49 years). Systematic evaluation at 1 year to determine heart-healthy diet (defined as caregiver burdens (five domains: employment, financial, physical, social, and time; Caregiver Strain Questionnaire). Logistic regression adjusted for covariates. Heart-healthy diet was less frequent among caregivers citing feeling overwhelmed (odds ratio [OR] = .50; 95% confidence interval [CI] = .26-.97), sleep disturbance (OR = .51; 95% CI = .27-.96), financial strain (OR = .41; 95% CI = .20-.86), upsetting behavior (OR = .48; 95% CI = .25-.92), and/or time demands (OR = .47; 95% CI = .26-.85) as burdens. Physical activity was less frequent among caregivers reporting financial strain (OR = .32; 95% CI = .13-.81) or upsetting patient behavior (OR = .33; 95% CI = .15-.76) as burdens. The most commonly cited caregiver burdens included changes in personal plans (39%), time demands (38%), and sleep disturbance (30%). Caregiver burdens were associated with nonachievement of heart-healthy diet and physical activity behaviors among family caregivers 1 year after patient discharge. When developing heart-health promotion interventions, caregiver burden should be considered as a possible barrier to prevention among family members of CVD patients.
Klitzman, Page H; Carmody, Julia K; Belkin, Mary H; Janicke, David M
This study aimed to evaluate agreement between children and parents on a measure of behavioral and pharmacological adherence in children with sickle cell disease (SCD), and the associations among family factors (i.e., problem-solving skills, routines, communication) and adherence behaviors. In all, 85 children (aged 8-18 years) with SCD and their parents completed questionnaires assessing individual and family factors. Overall parent-child agreement on an adherence measure was poor, particularly for boys and older children. Greater use of child routines was associated with better overall child-reported adherence. Open family communication was associated with higher overall parent-reported adherence. While further research is needed before definitive conclusions can be drawn, results suggest the need to assess child adherence behaviors via both child and parent reports. Findings also suggest that more daily family routines and open family communication may be protective factors for better disease management. © The Author 2017. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: email@example.com
This article reports on a new study by Nancy Riley about the relationship between gender equality and fertility and mortality declines in developing countries. Findings indicate that mortality and fertility has declined in countries without gender equality. Fertility and child mortality decline is related to women's educational status and employment. Riley argues that women's power to make decisions about health care, contraception, and the timing and number of children, if affected by education and paid employment, is more likely to lower mortality and fertility. Women's power may decline in countries where women's education and employment are advanced, but their role in society remains that of mothers. All developing countries showed a relationship between the amount of education and family size and child health. Fertility tends to be lowest among highly educated women. However, women's education has a stronger effect on child health and mortality. Maternal education also affects child nutritional status. Women's education offers women the option of job opportunities and new values or ideas. Women's employment may result in increased resources and status or in poverty and heavy physical labor. Societal views of women's work may reflect an increased self-worth for working women or lower status or the failure of a husband to adequately provide for family welfare. The key to the impact of women's employment is whether work becomes a way to achieve greater power for women in decision making about child welfare and family planning. Employment outside the home educates. In most countries, women who worked for cash had fewer children, but differences in fertility between working and nonworking women range from small to large. Higher income for Nigerian women means more children. Women's work also has inconsistent effects on child health.
Scott Burton L
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.
Marsaudon, E; Legal, C; Gayoux, D; Weber, O
Mondor's disease is a rare superficial thrombophlebitis, historically involving the thoracic venous system of women. However, it can occur in both gender and all over the skin. We report a 40-year-old man with type one diabetes who presented with a thrombosis of the superficial dorsal vein of the penis that he treated as a fungal infection. Treatment with non-steroidal anti-inflammatory drugs and low molecular weight heparin contributed to a favorable outcome in 2 weeks. Pathogenesis and treatment of Mondor's disease remain incompletely dominated. Some predisposing factors have been highlighted in the literature. It might be interesting to add diabetes, due to its frequent pelvic problems leading to a potential venous inflammatory trigger. Copyright © 2015 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.
Andersen, Elisabeth Anne Wreford; Andersen, Per Kragh
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...... before this time are misclassified as disease-free. Two methods are presented to adjust for this misclassification: regression calibration and an EM-type algorithm. These methods are used in the schizophrenia example where the large effect of having a schizophrenic mother hardly shows any signs of bias...
Rosland, Ann-Marie; Piette, John D
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.
Mackey, Eleanor Race; Hilliard, Marisa E; Berger, Sarah Shafer; Streisand, Randi; Chen, Rusan; Holmes, Clarissa
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.
Yamato, O; Matsunaga, S; Takata, K; Uetsuka, K; Satoh, H; Shoda, T; Baba, Y; Yasoshima, A; Kato, K; Takahashi, K; Yamasaki, M; Nakayama, H; Doi, K; Maede, Y; Ogawa, H
A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism developed neurological disorders, including ataxia, decreased postural responses and generalised body and head tremors, at between two and five months of age. Leucocytosis due to lymphocytosis with abnormal cytoplasmic vacuolations was observed. The concentration of G(M2)-ganglioside in its cerebrospinal fluid was markedly higher than in normal cats, and the activities of beta-hexosaminidases A and B in its leucocytes were markedly reduced. On the basis of these biochemical data, the cat was diagnosed antemortem with G(M2)-gangliosidosis variant 0 (Sandhoff-like disease). The neurological signs became more severe and the cat died at 10 months of age. Histopathologically, neurons throughout the central nervous system were distended, and an ultrastructural study revealed membranous cytoplasmic bodies in these distended neurons. The compound which accumulated in the brain was identified as G(M2)-ganglioside, confirming G(M2)-gangliosidosis. A family study revealed that there were probable heterozygous carriers in which the activities of leucocyte beta-hexosaminidases A and B were less than half the normal value. The Sandhoff-like disease observed in this family of Japanese domestic cats is the first occurrence reported in Japan.
Jongudomkarn, Darunee; Macduff, Colin
Cancer and non-communicable diseases are a major issue not only for the developed but also developing countries. Public health and primary care nursing offer great potential for primary and secondary prevention of these diseases through community and family-based approaches. Within Thailand there are related established educational curricula but less is known about how graduate practitioners enact ideas in practice and how these can influence policy at local levels. The aim of this inquiry was to develop family nursing practice in primary care settings in the Isaan region or Northeastern Thailand and to distill what worked well into a nursing model to guide practice. An appreciative inquiry approach involving analysis of written reports, focus group discussions and individual interviews was used to synthesize what worked well for fourteen family nurses involved in primary care delivery and to build the related model. Three main strategies were seen to offer a basis for optimal care delivery, namely: enacting a participatory action approach mobilizing families' social capital; using family nursing process; and implementing action strategies within communities. These were distilled into a new conceptual model. The model has some features in common with related community partnership models and the World Health Organization Europe Family Health Nurse model, but highlights practical strategies for family nursing enactment. The model offers a basis not only for planning and implementing family care to help prevent cancer and other diseases but also for education of nurses and health care providers working in communities. This articulation of what works in this culture also offers possible transference to different contexts internationally, with related potential to inform health and social care policies, and international development of care models.
Pimenta, Fernanda Batista; Pinho, Lucinéia; Silveira, Marise Fagundes; Botelho, Ana Cristina de Carvalho
The profile of a sample population of elderly receiving treatment under the Family Health Strategy in the municipality of Teófilo Otoni, State of Minas Gerais, Brazil, is described, and the factors associated with diseases prevalence examined. Using simple random sampling, 385 elderly were interviewed using Form A and Elderly Form from the Primary Health Care Information System. The majority of the sample (83.1%) self-reported at least one disease, 69.9% had hypertension, and 17.7% had diabetes. Poisson regression analysis showed that the main factors associated with hypertension and other diseases were being non-white, having a low level of education, medication use, dental prosthesis use, and lack of a private health plan. The prevalence of diabetes was greater among women and individuals who depended on other people to live. It can be concluded that this sample population of elderly has a generally low socioeconomic status and are more susceptible to developing diseases, particularly hypertension. Diabetes should be controlled although had relatively low prevalence. It is suggested investments in structuring the health system network to provide adequate care for the elderly and in training health professionals to play an effective role in improving the quality of life of the elderly in Brazil.
Horan, Paul G
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.
Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.
National Council for Children's Rights, Washington, DC.
Emphasizing the shortcomings of family law and their impact on divorced families and children, this report discusses a variety of topics related to divorce. Topics covered in the report include the following: (1) divorce statistics; (2) methods of resolving family disputes; (3) the marital contract; (4) the public's image of divorced fathers; (5)…
Carmenza Janneth Benavides Melo
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.
Muranen, Taru A.; Mavaddat, Nasim; Khan, Sofia; Fagerholm, Rainer; Pelttari, Liisa; Lee, Andrew; Aittom?ki, Kristiina; Blomqvist, Carl; Easton, Douglas F.; Nevanlinna, Heli
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 breas...
Maria V. Fernández
Full Text Available Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially studies of complex incomplete families, has been slower. In this study, we have performed a practical examination of all the latest gene-based methods available for family-based study designs using both simulated and real datasets. We examined the performance of several collapsing, variance-component, and transmission disequilibrium tests across eight different software packages and 22 models utilizing a cohort of 285 families (N = 1,235 with late-onset Alzheimer disease (LOAD. After a thorough examination of each of these tests, we propose a methodological approach to identify, with high confidence, genes associated with the tested phenotype and we provide recommendations to select the best software and model for family-based gene-based analyses. Additionally, in our dataset, we identified PTK2B, a GWAS candidate gene for sporadic AD, along with six novel genes (CHRD, CLCN2, HDLBP, CPAMD8, NLRP9, and MAS1L as candidate genes for familial LOAD.
Bekker-Grob, E.W. de; Dulmen, S. van; Berg, M. van den; Verheij, R.A.; Slobbe, L.C.J.
BACKGROUND: Considering the scarcity of health care resources and the high costs associated with cardiovascular diseases, we investigated the spending on cardiovascular primary preventive activities and the prescribing behaviour of primary preventive cardiovascular medication (PPCM) in Dutch family
... 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 ...
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.
Jansen, A. C. M.; van Aalst-Cohen, E. S.; Tanck, M. W.; Trip, M. D.; Lansberg, P. J.; Liem, A. H.; van Lennep, H. W. O. Roeters; Sijbrands, E. J. G.; Kastelein, J. J. P.
Objective. To determine the contribution of classical risk factors to the development of cardiovascular disease (CVD) in patients with heterozygous familial hypercholesterolaemia (FH). Design. A retrospective, multi-centre, cohort study. Extensive data were collected by scrutinizing medical records
Mazza, Verônica de Azevedo; Lima, Vanessa Ferreira de; Carvalho, Ana Karoline da Silva; Weissheimer, Gisele; Soares, Larissa Gramazio
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.
letter they should show to any doctor they may consult • in future.' ... decide which have done so before adult life is reached. ..... lyte balance must be carefully watched and maintained by ... fully and the best method is to work out a family tree,.
Dattilo, Giuseppe; Lamari, Annalisa; Tulino, Viviana; Scarano, Michele; De Luca, Eleonora; Mutone, Daniela; Busacca, Paolo
Bicuspid valve aortic (BVA) is one of the most common congenital malformations. Only 20% of patients preserves a normal valve function throughout life. There are sporadic and familial forms, the latter to autosomal dominant. We present a case of familiarity of BVA high penetrance. Patient with aortic stenosis by BVA, is the father of two children with BVA.
Werner, Perla; Mittelman, Mary S.; Goldstein, Dovrat; Heinik, Jeremia
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…
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.
Messing, Albee; Li, Rong; Naidu, Sakkubai; Taylor, J. Paul; Silverman, Lital; Flint, Daniel; van der Knaap, Marjo S.; Brenner, Michael
To describe genetic analyses of the 2 most thoroughly studied, historically seminal multigenerational families with Alexander disease described prior to the identification of GFAP as the related gene, as well as 1 newly discovered family. Clinical histories were obtained and DNA was analyzed from
Full Text Available The pathophysiology of inflammatory bowel disease (IBD reflects a balance between mucosal injury and reparative mechanisms. Some regenerating gene (Reg family members have been reported to be expressed in Crohn's disease (CD and ulcerative colitis (UC and to be involved as proliferative mucosal factors in IBD. However, expression of all REG family genes in IBD is still unclear. Here, we analyzed expression of all REG family genes (REG Iα, REG Iβ, REG III, HIP/PAP, and REG IV in biopsy specimens of UC and CD by real-time RT-PCR. REG Iα, REG Iβ, and REG IV genes were overexpressed in CD samples. REG IV gene was also overexpressed in UC samples. We further analyzed the expression mechanisms of REG Iα, REG Iβ, and REG IV genes in human colon cells. The expression of REG Iα was significantly induced by IL-6 or IL-22, and REG Iβ was induced by IL-22. Deletion analyses revealed that three regions (− 220 to − 211, − 179 to − 156, and − 146 to − 130 in REG Iα and the region (− 274 to− 260 in REG Iβ promoter were responsible for the activation by IL-22/IL-6. The promoters contain consensus transcription factor binding sequences for MZF1, RTEF1/TEAD4, and STAT3 in REG Iα, and HLTF/FOXN2F in REG Iβ, respectively. The introduction of siRNAs for MZF1, RTEF1/TEAD4, STAT3, and HLTF/FOXN2F abolished the transcription of REG Iα and REG Iβ. The gene activation mechanisms of REG Iα/REG Iβ may play a role in colon mucosal regeneration in IBD.
Bouca-Machado, R.; Titova, N.; Chaudhuri, K.R.; Bloem, B.R.; Ferreira, J.J.
Parkinson's disease is the second most common neurodegenerative disease worldwide. There is widespread consensus that Parkinson patients, their carers, and clinicians involved in their care would benefit from a fully integrated, need-based provision of palliative care. However, the concept of
It is thus useful for the physician to be familiar with the ocular manifestations of common systemic diseases at primary care level. ... It is important for the primary care physician to be familiar with the spectrum of ocular involvement in systemic diseases since appropriate intervention and referral can be sight saving for the ...
Cantegreil-Kallen, Inge; Rigaud, Anne-Sophie
Alzheimer's disease has a negative impact on family relationships and may trigger conflicts between the main caregiver and other family members. The systemic approach evidences the impact of dementia on structural and functional characteristics of the family system. Systemic family therapy is especially indicated in crisis situations such as emergency hospitalization or institutionalization of the patient, and when the family members do not agree on when and how to introduce care and support services at the patient's home. In this case, the aim of the intervention is to restore the communication between all the family members in order to find an agreement for the best management of the patients. Since September 2006, systemic family therapy has been offered in the memory clinic of the Broca Hospital to families having a member suffering from Alzheimer's disease. The involvement of the families was accomplished by the direct participation of the patient, main caregiver (spouse), grown-up children and grandchildren. The aim was to obtain an agreement for the access of support and care services at home from all the family members. The intervention was based on a step-by-step procedure and comprehended five sessions. The primary results of a pilot study are presented.
Regidor, Enrique; Pascual, Cruz; de la Fuente, Luis; Santos, Juana M; Astasio, Paloma; Ortega, Paloma
This study evaluates the extent to which domestic workload explains socio-economic differences in poor self-reported health in women and men. In total, 6284 men and women who were employed and living with a partner were selected from the 2003 Spanish Health Interview Survey. The indicators of family demands investigated were person responsible for housework, number of persons in the household and the presence of at least one child under 15 years of age in the household. The measures of socio-economic position were educational level and household income, and the measures of health status were poor perceived health and limitation of activity due to disease. Household size and presence of a child under 15 in the home were not related with the measures of health status. The indicator about the person who does the housework was related with poor perceived health and with activity limitation. Specifically, the worst health status was seen in respondents who lived in homes where the partner or other family members did the housework. In general, the relation between indicators of socio-economic position and measures of health status was not modified after taking into account the person who does the housework. Among working people with a partner, persons who work and do their own housework do not have poorer perceived health than those living in homes where other people do the housework. This indicator of family demands does not explain the socio-economic differences in self-reported health.
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.
Martin, Summer C
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. © The Author(s) 2016.
Ranthe, Mattis Flyvholm; Carstensen, Lisbeth; Oyen, Nina; Tfelt-Hansen, Jacob; Christiansen, Michael; McKenna, William J; Wohlfahrt, Jan; Melbye, Mads; Boyd, Heather A
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. Studies suggest that fatal cardiovascular events and less severe cardiovascular diseases may co-occur in families. Consequently, a family history of premature death may indicate a familial cardiac frailty that predisposes to early cardiovascular disease. We ascertained family history of premature death (age Denmark from 1950 to 2008 and followed this cohort for early cardiovascular disease (age history of premature cardiovascular death in first-degree relatives were 1.72 (95% confidence interval [CI]: 1.68 to 1.77), 2.21 (95% CI: 2.11 to 2.31), and 1.94 (95% CI: 1.70 to 2.20), respectively. With ≥2 cardiovascular deaths in a family, corresponding IRRs were 3.30 (95% CI: 2.77 to 3.94), 5.00 (95% CI: 3.87 to 6.45), and 6.18 (95% CI: 3.32 to 11.50). The IRR for any early cardiovascular disease given a family history of premature noncardiovascular death was significantly lower, 1.12 (95% CI: 1.10 to 1.14) (p(cardiac vs. noncardiac) history of premature cardiovascular death was consistently and significantly associated with a risk of early cardiovascular disease, suggesting an inherited cardiac vulnerability. These results should be kept in mind when assessing cardiovascular disease risk in persons with a family history of premature cardiovascular death. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
Full Text Available Abstract Introduction Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. Case presentation This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive homocystinuria with lens dislocation and neurodevelopmental delay. These severe complications were not observed in her son who was pyridoxine unresponsive but who had been treated appropriately since early infancy. Conclusion The phenotype of people with homocystinuria can be discordant within a family, with variability in metabolic and clinical expression depending upon both the genotype and therapeutic interventions. Offspring of people with homocystinuria should be screened in early infancy and, if positive, treated appropriately whether they have pyridoxine responsive or unresponsive disease.
Shapiro, R J; Harris, R I
Deaf patients with psychological problems have developmental handicaps and clinical characteristics that reduce the effectiveness of traditional modes of psychotherapy. Attempts have been made to utilize individual and group therapy, but family therapy has been largely overlooked as a method of alleviating problems of the deaf. Clinical and research writings provide us with rich insights into the family dynamics of the deaf. These data suggest to the authors that the problems of deaf individuals are largely related to family problems, and therefore merit a family orientation as the focus for treatment. This paper describes an attempt to apply family therapy with a range of deaf patients over a period of two years. From a review of their work, the authors conclude that family therapy can be effective, particularly in the treatment of deaf adolescents and children.
Fuller, Tamara; Zhang, Saijun
Despite decades of debate about the most effective ways to intervene with families reported to child protective services (CPS), little evidence exists regarding the types of services or approach that reduce children's risk of additional maltreatment. The current study used data collected during a statewide experimental evaluation of CPS to examine the impact of numerous service variables, family engagement, and family characteristics on the risk of maltreatment re-reports and substantiated re-reports among families initially reported for neglect and risk of harm. The sample included 4,868 families with screened-in reports that were randomly assigned to receive either an investigation or an assessment. The results of the Cox regression analyses found that service duration, intensity, and breadth were unrelated to maltreatment re-report or substantiated re-reports, but caseworker ratings of the service-need match were associated with both. The provision of domestic violence services was related to decreased risk of maltreatment re-reports. Increased levels of family engagement were associated with lowered risk of both maltreatment re-reports and substantiated re-reports. Once the effects of services, engagement, and family characteristics were taken into account, CPS response pathway (investigation or assessment) had no relationship to maltreatment re-reports or substantiated re-reports.
Metwalley Kotb A
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.
Sims, K B; Irvine, A R; Good, W V
To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features. Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments. A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed. The child had a mutation in the third exon (T776-->A; Ile 123-->Asn) identical to the mutation found in her uncles. Norrie disease can occur in girls. The most likely explanation is nonrandom or unfavorable X inactivation, although timing of development of the peripheral retina and its blood supply could render it vulnerable to effects of the mutant allele at a critical developmental phase.
... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Family History and Diamond Blackfan Anemia, DD11- 010, Initial Review Correction: This notice was published in the Federal Register on...
The known association between insulin resistance and polycystic ovarian disease (PCOD) has been studied by determination of the prevalence of a positive family history of diabetes in a consecutive series of oligomenorrheic women with polycystic ovaries and eumenorrheic women with normal ovaries who served as controls. A significantly greater proportion of the families of the patients with PCOD had at least one member affected by type 2 diabetes (39.1% of the PCOD group and 7.6% of the controls; p PCOD had an increased prevalence of type 2 diabetes within their families. Paternal and maternal family members affected were in similar proportions, there being no evidence of preferential transmission through the female line in this study. The increased prevalence of type 2 diabetes in the families of women with polycystic ovaries is further evidence for the association between PCOD and insulin resistance, and provides a possible explanation for the familial nature of the ovarian disorder.
Kupryś-Lipińska, Izabela; Kuna, Piotr
Chronic Obstructive Pulmonary Disease (COPD) is one of the most common chronic diseases of adults and is a major cause of chronic morbidity and mortality throughout the world. It is the cause of physical and mental suffering for the patient, significantly impairs quality of life, reduces the vital activity and affects the patient's life in its various aspects. In 2012, the nationwide survey was conducted in COPD outpatients with a history of smoking exploring the various factors of the disease and its effects on the health and life of the patient. The purpose of the analysis presented here is to assess the impact of COPD and tobacco smoking on the patient's health and life. Data were collected from patients by their physicians during routine visit with usage of specifically prepared questionnaire for this study. Patients over 35 years of age, with diagnosed COPD, current or past smokers were recruited from outpatients settings. The study involved 10,365 patients with COPD. Representative sample of 2,967 questionnaires were randomly drawn for the statistical analysis. The mean age of responders was 61.15 ± 10.25 years, 33.98% of participants were women, 56.73% were current smokers and 43.37% declared smoking in the past. The largest number of patients had COPD in a moderate degree (II - acc. to GOLD 2010) - 55.38%, sequentially mild (I) - 21.40%, and severe (III) - 19.96%, the smallest group were people with very severe degree of disease (IV) - 3.27%. Using the new classification of the COPD severity (acc. to GOLD 2013), the largest group of patients were less symptomatic (mMRC ) subjects who had a low risk (A) - 52.67%, but in fact a second group of patients were subjects with severe symptoms and a high risk (D) - 20 45% , sequentially - patients with low severity of symptoms, but a high risk (C) - 16.16% , and severe symptoms and a low risk - 10.72% (B). Patients most often reported that COPD affects their activity in sport (83.45% of respondents), than in living
Pelcastre, Erika L; Villanueva-Mendoza, Cristina; Zenteno, Juan C
To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR). Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination. Molecular methods included DNA isolation from peripheral blood leucocytes, polymerase chain reaction amplification and direct nucleotide sequencing analysis of the complete coding region and exon-intron junctions of NDP. Haplotype analysis using NDP-linked microsatellites markers was performed in both ND families. A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with ND. Haplotype analysis demonstrated that affected males in these two families shared the same ND-linked haplotype, suggesting a common origin for this novel mutation. The previously reported p.Arg121Trp and p.Arg121Gln Norrin mutations were identified in the two families with XL-FEVR. Our results expand the mutational spectrum in ND. This is the first report of ND resulting from mutation at arginine position 41 of Norrin. Interestingly, mutations at the same residue but resulting in a different missense change were previously described in subjects with XL-FEVR (p.Arg41Lys) or persistent fetal vasculature syndrome (p.Arg41Ser), indicating that the novel p.Arg41Thr change causes a more severe retinal phenotype. Preliminary data suggest a founder effect for the ND p.Arg41Thr mutation in these two Mexican families.
Iribarren, Sarah; Stonbraker, Samantha; Suero-Tejeda, Niurka; Granja, Maribel; Luchsinger, José A; Mittelman, Mary; Bakken, Suzanne; Lucero, Robert J
To identify the information and communication needs of Hispanic family caregivers for individuals with Alzheimer's Disease and Related Dementias (ADRD) and the manner in which online tools may meet those needs. We conducted 11 participatory design sessions with 10 English- and 14 Spanish-speaking urban-dwelling Hispanic family caregivers and gathered data using a survey, collage assemblage, and audio and video recordings. Four investigators analyzed transcripts of audio recordings with a coding framework informed by several conceptual models. Participants had an average age of 59.7 years, were mostly female (79.2%), and had cared for a family member with ADRD for an average of 6.5 years. All participants accessed the Internet at least once a week with 75% ≥ daily. Most used the Internet to look up health information. All participants reported caregiver attributes including awareness of the disease symptoms or behaviors. The majority reported information needs/tasks (91.7%), communication needs/tasks (87.5%), and need for online tools (79.2%). Hispanic caregivers of individuals with ADRD reported key information and communication needs/tasks. Only Spanish-speaking participants reported Internet and technology use deficits suggesting the requirement for further technology support. Data show a need for online tools to meet the needs of caregivers.
(p = 0.002) and age group (p = 0.0027) were true predictors of CKD among the study subjects. ... from intrinsic kidney and urinary tract disease was one million in the .... tract infections or acute illness with fever, and those who refused to.
Renan Magalhães Montenegro Junior
Full Text Available CONTEXT: The association between psoriasis and hypoparathyroidism has been reported by several authors, and it has been suggested that abnormalities in calcium homeostasis may be involved in the development or exacerbation of psoriasis. However, so far there have only been two reports of pseudohypoparathyroidism associated with psoriasis. OBJECTIVE: To describe the familial occurrence of this association for the first time. CASE REPORTS: Two siblings with psoriasis associated with pseudohypoparathyroidism were presented. The first patient was a 24-year-old white male with disseminated erythrodermic pustular psoriasis that began 2 months before admission. He had had a history of mental retardation, recurrent otitis, seizures and arthralgia from the age of 11 years onwards. He presented the characteristic phenotype of Albright osteodystrophy: short stature, obesity, round facies, broad forehead, short neck and brachydactylia. He adopted a position of flexed limbs and showed proximal muscle weakness and a positive Trousseau sign. He had clinical signs of hypocalcemia (0.69 mmol/l ionized calcium and 3.2 mg/dl total calcium, hyperphosphatemia (6.6 mg/dl, hypomagnesemia (1.0 mEq/l, hypoalbuminemia (3.1 g/dl, normal serum intact PTH levels (45.1 pg/ml, primary hypothyroidism (13.2 mU/ml TSH, and 4.7 mg/dl total T4, hypergonadotrophic hypogonadism (116.0 ng/ml LH, 13.2 mU/ml FSH and 325.0 ng/dl testosterone, osteoporosis, and diffuse calcifications in soft tissues and in the central nervous system. The second case was a 14-year-old white girl with a history of psoriasis vulgaris from the age of five years onwards, and antecedents of mental retardation. She presented signs of Albright osteodystrophy (short stature, round facies, obesity, short neck, brachydactylia, hypocalcemia (ionized calcium of 1.08 mmol/l and total calcium of 6.7 mg/dl hyperphosphatemia (9.4 mg/dl, elevated serum PTH levels (223.0 pg/ml, osteoporosis, and hypergonadotrophic
Greenley, Rachel Neff; Reed-Knight, Bonney; Blount, Ronald L; Wilson, Helen W
Evaluate the factor structure of youth and maternal involvement ratings on the Inflammatory Bowel Disease Family Responsibility Questionnaire, a measure of family allocation of condition management responsibilities in pediatric inflammatory bowel disease. Participants included 251 youth aged 11-18 years with inflammatory bowel disease and their mothers. Item-level descriptive analyses, subscale internal consistency estimates, and confirmatory factor analyses of youth and maternal involvement were conducted using a dyadic data-analytic approach. Results supported the validity of 4 conceptually derived subscales including general health maintenance, social aspects, condition management tasks, and nutrition domains. Additionally, results indicated adequate support for the factor structure of a 21-item youth involvement measure and strong support for a 16-item maternal involvement measure. Additional empirical support for the validity of the Inflammatory Bowel Disease Family Responsibility Questionnaire was provided. Future research to replicate current findings and to examine the measure's clinical utility is warranted.
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…
Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.
Basit, A.; Hakeem, R.; Hydrie, M.Z.; Ahmadani, M.Y.; Masood, Q.
Objective: To assess the differences in relative risk of developing diabetes and CHD, obesity, fasting blood glucose, insulin and lipids of children having family history of diabetes or heart disease in first or second degree relatives as compared to control group. Design: Children were given a questionnaire to collect demographic data and to assess their dietary habits and family history. Anthropometric measurements and blood samples for fasting blood glucose, insulin and lipids of 8-10 years old children from 4 schools was taken. Subjects: Children having positive family history of diabetes (n=44) or heart disease (n=16) in first or second degree relatives were compared with a control group (n=39). Results: Children having positive family history for diabetes had slightly higher mean values for BMI, waist circumference, arm fat % as compared to the controls but the differences were not statistically significant. Overweight children (>85th Percentile of BMI for age) did not differ significantly in terms of various risk indicators however those who were in the uppermost tertile of arm fat % had significantly higher total Cholesterol, Triglycerides, LDL-C, LDL:HDL and Insulin levels (P<0.05 in each case). Conclusion: Diabetes and CVD risks from positive family history for the disease are probably mediated through increased body fat percentage. Thus even when information about family history of disease is lacking, arm-fat-percentage could be used as an important screening tool for determining the risk status of children. (author)
Luckhoff, Hilmar K; Brand, Theresa; van Velden, Dawid P; Kidd, Martin; Fisher, Leslie R; van Rensburg, Susan J; Kotze, Maritha J
Having a family history of Alzheimer' s disease (AD) may potentiate cumulative risk associated with phenotypic expression of the ε-4 allele of the apolipoprotein E (APOE) gene. In this study, we compared the genotype distribution and allele frequencies of APOE ε-2 (rs7412) and ε -4 (rs429358) in 537 South African individuals participating in a chronic disease screening program, in order to establish whether AD family history modulates the expression of their dyslipidemic effects. Significant differences in the genotype distribution for APOE ε-2 (p=0.034) as well as APOE ε-4 (p=0.038) were found between study participants with (n=67) and without (n=470) a family history of AD. LDL cholesterol levels were inversely associated with physical activity in the study group with a positive family history of AD (pfamilial hypercholesterolemia, clinical inquiry regarding family history was identified as an important determinant of eligibility for APOE genotyping performed in the context of chronic disease risk management. To our knowledge, this is the first study to demonstrate the modulating influence of AD family history on expression of a dyslipidemic phenotype associated with the APOE ε-4 allele. Our findings provide the scientific rationale supporting a novel clinical application for APOE genotyping as a means of identifying a genetic subgroup of dyslipidemic patients set to derive the greatest benefit from early lifestyle-based interventions aimed at decreasing cumulative risk for cardiovascular disease and prevention of AD later in life.
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.
Givaty, Gili; Maggio, Nicola; Cohen, Oren S; Blatt, Ilan; Chapman, Joab
In this study, we aimed to assess sleep function in patients with recent-onset familial Creutzfeldt-Jakob disease (fCJD). The largest cluster of fCJD patients is found in Jews of Libyan origin, linked to the prion protein gene (PRNP) E200K mutation. The high index of suspicion in these patients often leads to early diagnosis, with complaints of insomnia being a very common presenting symptom of the disease. The study included 10 fCJD patients diagnosed by clinical manifestations, magnetic resonance imaging (MRI) scan of the brain, elevated tau protein in the cerebrospinal fluid (CSF) and positive PRNP E200K mutation. Standard polysomnography was performed after a brief interview confirming the presence of sleep disturbances. All patients showed a pathological sleep pattern according to all scoring evaluation settings. The sleep stages were characterized by (i) disappearance of sleep spindles; (ii) outbursts of periodic sharp waves and shallowing of sleep consisting in increased Stage 2 and wake periods during the night, as well as decrease of slow-wave sleep and rapid eye movement (REM) sleep. Recordings of respiratory functions reported irregular breathing with central and obstructive apnea and hypopnea. The typical hypotonia occurring during the night and atonia during REM sleep were replaced by hyperactive sleep consisting of multiple jerks, movements and parasomnia (mainly talking) throughout the night. In conclusion, we report unique pathological sleep patterns in early fCJD associated with the E200K mutation. Specific respiratory disturbances and lack of atonia could possibly serve as new, early diagnostic tools in the disease. © 2016 European Sleep Research Society.
Dr Varun Chaudhary; Dr Ami Jani
Lhermitte-Duclos disease (LDD) is a benign neoplasm of posterior fossa, involving cerebellum. It is also known as dysplastic cerebellar gangliocytoma. It is not a true neoplasm but a hamartoma. It can be either isolated finding or associated with Cowden disease (multiple hamartoma syndrome). Lhermitte-Duclos disease typically presents in young adults.
Celik, A F; Katsinelos, P; Read, N W; Khan, M I; Donnelly, T C
A second family with hereditary proctalgia fugax and internal anal sphincter hypertrophy associated with constipation is described. Anorectal ultrasonography, manometry, and sensory tests were conducted in two symptomatic and one asymptomatic subjects within the same family and further clinical information was obtained from other family members. The inheritance would correspond to an autosomal dominant condition with incomplete penetration, presenting after the second decade of life. Physiological studies showed deep, ultraslow waves and an absence of internal anal sphincter relaxation on rectal distension in the two most severely affected family members, suggesting the possibility of a neuropathic origin. Both of these patients had an abnormally high blood pressure. After treatment with a sustained release formulation of the calcium antagonist, nifedipine, their blood pressure returned to normal, anal tone was reduced, and the frequency and intensity of anal pain was suppressed. These together improved the quality of the patients' sleep, which had previously been very troubled because of night time attacks of anal pain.
Kawasaki disease, an acute febrile vasculitis, predominantly affects children under the age of 5 years and is thought to be a rare disease in the developing world. . It has previously never been reported in Ghana. We report 3 cases from February, 2007 to February, 2008. This potentially serious disease has no definitive ...
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.
44 participants from 12 West African nations met in Banjul, the Gambia, from October 22-26, 1979 and unanimously agreed that family planning is in conformity with Islam. They called for greater involvement of local Muslim leaders in African countries to encourage family planning for the promotion of maternal and child health. The Conference was sponsored by IPPF Africa Region and attended by representatives of Muslim associations, health and family planning workers, teachers, government officials, and experts on Muslim law from Cameroon, The Gambia, Ghana, Guinea, Liberia, Mali, Morocco, Nigeria, Senegal, Sierra Leone, Upper Volta, and Zaire. The Conference members acknowledged that while the Koran, the Sunna, and the concensus of most Islam scholars is that family planning is acceptable within marriage, most traditional religious leaders are ignorant of the fact. Muslim women should be encouraged to take an interest in family planning. Other recommendations were educating Muslims on nutrition, sanitation, and health; to collect views of African Muslim leaders and publicize them; and, to persuade Ministries of Education to include family relations and parenthood in school curricula.
Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo
Purpose: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing bas...
Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.
Karam Simone M.
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.
Kiliś-Pstrusińska, Katarzyna; Medyńska, Anna; Adamczyk, Piotr; Bałasz-Chmielewska, Irena; Grenda, Ryszard; Kluska-Jóźwiak, Agnieszka; Leszczyńska, Beata; Olszak-Szot, Ilona; Miklaszewska, Monika; Szczepańska, Maria; Tkaczyk, Marcin; Wasilewska, Anna; Zachwieja, Katarzyna; Zajączkowska, Maria; Ziółkowska, Helena; Zagożdżon, Ilona; Zwolińska, Danuta
Chronic kidney disease (CKD) in children burdens life of patients and their families. Little is known about parents` assessment of families' social situation. However, the knowledge of the details of a patient's and his family's life standards might influence modification and optimization of applied therapy. Therefore, the main goal of the present study was to explore the selected elements of life situation of patients suffering with CKD as well as their parents, depending on the CKD stage and appropriate treatment. Cross-sectional national study was conducted. A total of 203 children with CKD and 388 their parent-proxies (196 women and 192 men) were enrolled into this study. Patient data and questionnaires filled by both parents, concerning social-demographic parameters and assessment of changes in families after CKD diagnosis in the child, were analysed. CKD children are being brought up in proper families whose financial situation is not good. Children need help in process of education. Perception of current situation differed between both parents in the change of the income source, taking care of CKD child, change in social relations and evaluating relations with medical staff. Parents do not obtain proper support from social workers. Families of CKD children require support in area of financial and educational help for school children. The discrepancies in evaluation of family situation between mothers and fathers of ill children might be the source of conflicts possibly resulting in worsening the outcome for CKD children.
St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.
Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.
Corrêa, R L; Silva, T F; Simões-Araújo, J L; Barroso, P A V; Vidal, M S; Vaslin, M F S
Cotton blue disease is an aphid-transmitted cotton disease described in Brazil in 1962 as Vein Mosaic "var. Ribeirão Bonito". At present it causes economically important losses in cotton crops if control measures are not implemented. The observed symptoms and mode of transmission have prompted researchers to speculate that cotton blue disease could be attributed to a member of the family Luteoviridae, but there was no molecular evidence supporting this hypothesis. We have amplified part of the genome of a virus associated with this disease using degenerate primers for members of the family Luteoviridae. Sequence analysis of the entire capsid and a partial RdRp revealed a virus probably belonging to the genus Polerovirus. Based on our results we propose that cotton blue disease is associated with a virus with the putative name Cotton leafroll dwarf virus (CLRDV).
Seasonal ataxia: a case report of a disappearing disease. Adebiyi Ayoade ... ological profiles of the disease. ... low serum albumin levels  act as a potentiating factor to trigger the ... 65% neutrophils, 25% lymphocytes,eosinophils 5% and.
Tušek-Bunc, Ksenija; Petek, Davorina
Family medicine plays an important role in quality of care (QoC) of coronary heart disease (CHD) patients. This study's aim was to determine the quality of secondary cardiovascular disease prevention in the everyday practice of family physicians. This study was observational cross-sectional. About 36 randomly selected family medicine practices stratified by size and location in Slovenia. CHD patients randomly selected from a patient register available in family medicine practices. The instrument for assessment of quality included a form for collecting data from medical records, a general practice assessment questionnaire and a patient questionnaire. QoC was defined by two composite variables, namely risk factor registration and CHD patient process of care, as the two care outcomes. In multivariate analysis, we performed multilevel regression analysis to identify the associations between QoC, the patient and the practice characteristics. The final sample included 423 CHD patients from 36 family medicine practices. Risk factor registration was associated with the practice organisation score (P = 0.004), practice size (P = 0.042), presence of comorbid atherosclerotic diseases (P = 0.043) and a lower age of CHD patients (P = 0.001). CHD patient process of care was associated with the practice organisation score (0.045) and a lower age of CHD patients (P = 0.035). The most important factors affecting the quality of CHD patient care were linked to the organisational characteristics of the family medicine practices.
Peiser, Nadine C.; Heaven, Patrick C. L.
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)
van der Steen, J.T.; Deliens, L.; Ribbe, M.W.; Onwuteaka-Philipsen, B.D.
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.
Plant, Karen; Byrne, Linda; Barkla, Joanne; McLean, Duncan; Hearle, Jenny; McGrath, John
Examines the utility of various self-report instruments related to family functioning in families where a parent has a psychotic disorder, and explores associations between these instruments and symptoms in the parent. There were significant associations between objective measures of negative symptoms and self-report scores related to problems in…
Thomas, Narelle; Clarke, Valerie; Lavery, Judy
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)
Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.
Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M
We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agre...
Dovigi, Allan J
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.
García-Olmos, Luis; Alberquilla, Angel; Ayala, Victoria; García-Sagredo, Pilar; Morales, Leticia; Carmona, Montserrat; de Tena-Dávila, María José; Pascual, Mario; Muñoz, Adolfo; Salvador, Carlos H; Monteagudo, Jose L
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. 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. 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. Patients with COPD, who are frequent in family practice, have a complex profile and pose a clinical and organisational challenge to FPs.
Saarimäki, Heini; Bastin, Mark E.; Londoño, Ana C.; Pettit, Lewis; Lopera, Francisco; Della Sala, Sergio; Abrahams, Sharon
Binding information in short-term and long-term memory are functions sensitive to Alzheimer’s disease. They have been found to be affected in patients who meet criteria for familial Alzheimer’s disease due to the mutation E280A of the PSEN1 gene. However, only short-term memory binding has been found to be affected in asymptomatic carriers of this mutation. The neural correlates of this dissociation are poorly understood. The present study used diffusion tensor magnetic resonance imaging to investigate whether the integrity of white matter structures could offer an account. A sample of 19 patients with familial Alzheimer’s disease, 18 asymptomatic carriers and 21 non-carrier controls underwent diffusion tensor magnetic resonance imaging, neuropsychological and memory binding assessment. The short-term memory binding task required participants to detect changes across two consecutive screens displaying arrays of shapes, colours, or shape-colour bindings. The long-term memory binding task was a Paired Associates Learning Test. Performance on these tasks were entered into regression models. Relative to controls, patients with familial Alzheimer’s disease performed poorly on both memory binding tasks. Asymptomatic carriers differed from controls only in the short-term memory binding task. White matter integrity explained poor memory binding performance only in patients with familial Alzheimer’s disease. White matter water diffusion metrics from the frontal lobe accounted for poor performance on both memory binding tasks. Dissociations were found in the genu of corpus callosum which accounted for short-term memory binding impairments and in the hippocampal part of cingulum bundle which accounted for long-term memory binding deficits. The results indicate that white matter structures in the frontal and temporal lobes are vulnerable to the early stages of familial Alzheimer’s disease and their damage is associated with impairments in two memory binding
Louise Aas Nielsen
Full Text Available The prevalence of childhood obesity has reached alarming rates world-wide. The aetiology seems to be an interplay between genetic and environmental factors, and a surrogate measure of this complex interaction is suggested as familial predisposition. Familial predisposition to obesity and related cardiovascular disease (CVD complications constitute the presence of obesity and/or obesity-related complications in primarily blood-related family members. The approaches of its measurement and applicability vary, and the evidence especially of its influence on obesity and obesity treatment in childhood is limited. Studies have linked a familial predisposition of obesity, CVD (hypertension, dyslipidaemia and thromboembolic events, and type 2 diabetes mellitus to BMI as well as other adiposity measures in children, suggesting degrees of familial aggregation of metabolic derangements. A pattern of predispositions arising from mothers, parents or grandparents as being most influential have been found, but further comprehensive studies are needed in order to specify the exact implications of familial predisposition. In the scope of childhood obesity this article reviews the current literature regarding familial predisposition to obesity and obesity-related complications, and how these familial predispositions may impact obesity in the offspring.
Nielsen, Louise Aas; Nielsen, Tenna Ruest Haarmark; Holm, Jens-Christian
The prevalence of childhood obesity has reached alarming rates world-wide. The aetiology seems to be an interplay between genetic and environmental factors, and a surrogate measure of this complex interaction is suggested as familial predisposition. Familial predisposition to obesity and related cardiovascular disease (CVD) complications constitute the presence of obesity and/or obesity-related complications in primarily blood-related family members. The approaches of its measurement and applicability vary, and the evidence especially of its influence on obesity and obesity treatment in childhood is limited. Studies have linked a familial predisposition of obesity, CVD (hypertension, dyslipidaemia and thromboembolic events), and type 2 diabetes mellitus to BMI as well as other adiposity measures in children, suggesting degrees of familial aggregation of metabolic derangements. A pattern of predispositions arising from mothers, parents or grandparents as being most influential have been found, but further comprehensive studies are needed in order to specify the exact implications of familial predisposition. In the scope of childhood obesity this article reviews the current literature regarding familial predisposition to obesity and obesity-related complications, and how these familial predispositions may impact obesity in the offspring. PMID:26465142
Palmer, S. B.; Wehmeyer, M. L.; Davies, D. K.; Stock, S. E.
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…
visit the Capital Area Food Bank. The Corporation for National and Community Service has the United We virtually! Order food online and have it sent to a food bank of your choice. Instructions Campaign Materials Capital Area Food Bank Feeding America Ample Harvest 2013 DoD Feds Feed Families Website . Main Menu Home
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A 54year old man brought his son to our clinic because of large eyeballs and poor vision from birth. Family history revealed that father and another child had poor vision and used to squeeze their faces especially in bright light. Examination of the boy revealed bilateral aniridia with congenital glaucoma. The father, the other ...
Administration for Children & Families, 2014
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…
Gallegos, José L; Budnik, Isolda; Peña, Anamaría; Canales, Marilena; Concha, Mónica; López, Javier
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.
Pyo, Hyun Soon; Hwang, Ho Kyeung; Park, Byung Moon [Kwangmyungsungae General Hospital, Kwangmyung (Korea, Republic of)
Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP.
Pyo, Hyun Soon; Hwang, Ho Kyeung; Park, Byung Moon
Fibrodysplasia ossificans progressiva (FOP) is a rare connective tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae and skeletal muscles. We document the radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP
Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit
Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.
Shastry, B S; Hiraoka, M; Trese, D C; Trese, M T
Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with sensorineural hearing loss and mental retardation. X-linked familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina and is not associated with systemic diseases. X-linked recessive disorders generally do not affect females. Here we show that female carriers can be associated with manifestation of an X-linked disorder. A four-generation family with an affected female, and a history of congenital blindness and hearing loss, was identified through the pro-band. A second family, with a full-term female infant, was evaluated through ophthalmic examinations and found to exhibit ocular features, such as retinal folds, retinal detachment and peripheral exudates. Peripheral blood specimens were collected from several affected and unaffected family members. DNA was extracted and analyzed by single-strand conformation polymorphism (SSCP) following polymerase chain reaction (PCR) amplification of the exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method. In an X-linked four-generation family, a novel missense (A118D) mutation in the third exon of the Norrie disease gene, was identified. The mutation was transmitted through three generations and cosegregated with the disease. The affected maternal grandmother and the unaffected mother carried the same mutation in one of their alleles. In an unrelated sporadic family, a heterozygous missense mutation (C96Y) was identified in the third exon of the Norrie disease gene in an affected individual. Analysis of exon-1 and 2 of the Norrie disease gene did not reveal any additional sequence alterations in these families. The mutations were not detected in the unaffected family members and the 116 normal unrelated controls, suggesting that they are likely to be the pathogenic mutations
Cosimo, Caterina; Franco, Ciro
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.
Zhang, Zhuo-li; Wang, Yu; Zhou, Wei; Hao, Yan-jie
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.
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
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.
Floroskufi, Paraskewi; Panas, Marios; Karadima, Georgia; Vassilopoulos, Demetris
Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero.
Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo
Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.
Full Text Available Purpose: Norrie disease (ND is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. Results: We identified a novel missense variant (c.314C>A located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. Conclusion: c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.
This article is concerned with understanding moral aspects of everyday life in families with Huntington’s Disease (HD). It draws on findings from an empirical research project in Denmark in 1998e2002 involving multi-sited ethnography to argue that medical genetics provides a particular framework...... for conducting life in an HD family. A framework that implies that being informed and making use of genetic services expresses greater moral responsibility than conducting life without drawing on these resources. The moral imperative of engagement in medical genetics is challenged here by two pieces...... 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...
Brennan, David S; Spencer, A John; Roberts-Thomson, Kaye F
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.
Duncan, Scott; Goodyear-Smith, Felicity; McPhee, Julia
OBJECTIVE: To assess the effects of a family-centered, physical activity and nutrition "brief" intervention (time-limited contact) on body weight and related health outcomes in primary health care patients with an elevated 5-year cardiovascular disease (CVD) risk. METHODS: This study implemented...
Seelaar, H.; Schelhaas, H.J.; Azmani, A.; Kusters, B.; Rosso, S.; Majoor-Krakauer, D.F.; Rijik, M.C. de; Rizzu, P.; Brummelhuis, M. Ten; Doorn, P.A. van; Kamphorst, W.; Willemsen, R.; Swieten, J. van
Frontotemporal dementia is accompanied by motor neuron disease (FTD + MND) in approximately 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
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 (John)
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
Jensen, J M; Gerdes, Lars Ulrik; Jensen, H K
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...
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...
Background: Surgical disease burden is quite high in sub Saharan Africa (SSA), and is complicated by low human resource for health. These factors tend to increase thesurgical Disability Adjusted Life Years (DALYs)in SSA. Increasing the training and deployment of surgically trained generalists like Family Physicians, is a ...
de Bot, Susanne T; Kremer, H P H; Dooijes, Dennis; Verbeek, Marcel M
In sporadic Alzheimer's disease (AD), cerebrospinal fluid (CSF) analysis is becoming increasingly relevant to establish an early diagnosis. We present a case of familial AD due to a presenilin-1 mutation in which CSF studies suggested appropriate DNA diagnostics. A 38 year old Dutch man presented
Ashida, Sato; Kaphingst, Kimberly A; Goodman, Melody; Schafer, Ellen J
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.
Ullah, Sana; Ajab, Shereen; Rao, Rajashekhar; Raghunathan, Girish; DaCosta, Philip
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. © The Author(s) 2014.
Timmins, Vanessa; Swampillai, Brenda; Hatch, Jessica; Scavone, Antonette; Collinger, Katelyn; Boulos, Carolyn; Goldstein, Benjamin I
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.
Tracy L. Schumacher
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.
Schumacher, Tracy L; Burrows, Tracy L; Thompson, Deborah I; Callister, Robin; Spratt, Neil J; Collins, Clare E
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.
Corporaal, S.; Bijl, Marc; Kallenberg, Cees
To determine the prevalence of autoimmune diseases and autoantibodies in relatives of Caucasian patients with systemic lupus erythematosus (SLE) we questioned 118 patients for the prevalence of autoimmune diseases in their relatives. Multicase SLE families were selected for further investigation:
Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles
Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.
Vanali V Umrania
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.
Eaton, Charles B; Galliher, James M; McBride, Patrick E; Bonham, Aaron J; Kappus, Jennifer A; Hickner, John
Family physicians have the potential to make a major impact on reducing the burden of cardiovascular disease through the optimal assessment and management of hyperlipidemia. We were interested in assessing the knowledge, beliefs, and self-reported practice patterns of a representative sample of family physicians regarding the assessment and management of hyperlipidemia 2 years after the release of the evidence-based National Cholesterol Education Program (NCEP) Adult Treatment Panel (ATP) III guidelines. A 33-item survey was mailed to a random sample (N = 1200) of members of the American Academy of Family Physicians in April of 2004, with 2 follow-up mailings to nonresponders. Physicians were queried about sociodemographic characteristics, their knowledge, attitudes, and self-reported practice patterns regarding the assessment and management of hyperlipidemia. Four case scenarios also were presented. Response rate was 58%. Over 90% of surveyed family physicians screened adults for hyperlipidemia as part of a cardiovascular disease prevention strategy. Most (89%) did this screening by themselves without the support of office staff, and 36% reported routine use of a flow sheet. Most had heard of the ATP III guidelines (85%), but only 13% had read them carefully. Only 17% of respondents used a coronary heart disease (CHD) risk calculator usually or always. Over 90% of those responding reported using low-density lipoprotein (LDL) as the treatment goal but only 76% reported using non-high-density lipoprotein (HDL) cholesterol as a secondary goal of therapy. We found a large variability in knowledge, beliefs, and practice patterns among practicing family physicians. We found general agreement on universal screening of adults for hyperlipidemia as part of cardiovascular disease prevention strategy and use of LDL cholesterol as a treatment goal. Many other aspects of the NCEP ATP III guidelines, such as use of a systematic, multidisciplinary approach, using non
Floris, Gianluca; Di Stefano, Francesca; Cherchi, Maria Valeria; Costa, Gianna; Marrosu, Francesco; Marrosu, Maria Giovanna
Cerebral microbleeds (CMB) might reflect specific underlying vascular pathologies like cerebral amyloid angiopathy (CAA). In the present study we report the gradient-echo MRI pattern of two siblings with P284S PSEN1 mutation. T2* gradient-echo images of the two subjects demonstrated multiple microbleeds in lobar regions. The role and causes of CMB in sporadic Alzheimer's disease (AD) patients have not been clearly established and useful contributions could derive from familial AD studies. Furthermore, since CAA is a potential risk factor for developing adverse events in AD immunization trials, the identification in vivo of CAA through non-invasive MRI methods could be useful to monitoring side effects.
Nishioka, Kenya; Kefi, Mounir; Jasinska-Myga, Barbara; Wider, Christian; Vilariño-Güell, Carles; Ross, Owen A; Heckman, Michael G; Middleton, Lefkos T; Ishihara-Paul, Lianna; Gibson, Rachel A; Amouri, Rim; Ben Yahmed, Samia; Ben Sassi, Samia; Zouari, Mourad; El Euch, Ghada; Farrer, Matthew J; Hentati, Faycal
Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 (LRRK2), PTEN induced kinase 1 (PINK1) and parkin (PRKN). Clinical features were compared between patients with genetically undefined PD (n=107) and those with LRRK2 (n=73) and PINK1 (n=42) mutations using regression analyses adjusted for gender, age of onset and disease duration. PRKN cases (n=9) were too few for meaningful statistical analysis. In comparison with genetically undefined patients, LRRK2 mutation carriers had more severe motor symptoms (median Unified Parkinson's Disease Rating Scale scores approximately 1.6 times higher, pundefined patients. As expected, PINK1 patients had younger ages and ages at disease onset, and a longer disease duration compared with LRRK2 mutation carriers and genetically undefined patients. Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice. As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies.
van Tilborg, M.M.A.; Kort, H.S.M.; Murphy, P.J.
The common ocular pathologies relating to the aging eye, such as cataract, diabetic retinopathy, glaucoma, or macular degeneration, are all known to reduce visual functioning. Less wellknown is the effect of common, age-related dry eye disease (DED). The impact of DED on daily activities can be
Full Text Available Creutzfeldt-Jakob Disease (CJD is characterised by subacute progressive dementia, cerebellar ataxia, myoclonic jerks together with pyramidal and extrapyramidal signs. It is a rare prion disease and definitive diagnosis can only be made by biopsy. It becomes progressively worse and the death is the rule. We presented two CJD cases because of their demonstrative characteristics. A 43 year-old female and a 52 year-old male patient was suspected to be CJD due to presence of subacute severe cognitive deterioration, neuropsychiatric disturbances, myoclonic jerks, ataxia, pyramidal and extrapyramidal signs and also periodic spike and wave complexes in EEG. Patients were lost in a short period of time because of the complications of disease process. Medical autopsy were done in both cases for definitive diagnosis and autopsy results displayed characteristic pathologic findings of CJD. Patients were diagnosed as definitive sporadic CJD according to Master’s, French and European criterias. CJD should be considered in patients with rapidly progressive dementia, that starts with various neuropsychiatric symptoms. Although seen very rare, CJD is a untreatable, fatal disease. Therefore we emphasize that, preventive precaution should be taken when a CJD diagnosis is suspected
Post-intervention assessment on the groups was done.We analysed ... statistically significant (χ = 16.31;df= 1;p< 0.0000) in the intervention group. Conclusion: The study ..... staff; Nurses, Midwives, Environmental. Health Officers ... may also be found at other tiers of healthcare delivery. .... Performance of Integrated Disease.
Chaudhuri, Sayani; Rao, Karthik N; Patil, Navin; Ommurugan, Balaji; Varghese, George
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.
Bailey, Jacqueline M; Wye, Paula M; Wiggers, John H; Bartlem, Kate M; Bowman, Jennifer A
People with a mental illness experience greater chronic disease morbidity and mortality compared to those without mental illness. Family carers have the potential to promote the health behaviours of those they care for however factors which may influence the extent to which they do so have not been reported. An exploratory study was conducted to investigate carers': 1) promotion of fruit and vegetable consumption, physical activity, quitting smoking, and reducing alcohol consumption; 2) perceptions of their role and ability to promote such behaviours; 3) and the association between carer perceptions and the promotion of such behaviours. A cross-sectional survey was conducted with mental health carers ( N = 144, 37.6% response rate) in New South Wales, Australia in 2013. Associations between current promotion of health behaviours and carer perceptions were explored through multivariate regression analysis in 2016. A majority of respondents promoted fruit and vegetable consumption (63.8%), physical activity (60.3%), quitting smoking (56.3%), and reducing alcohol consumption (56.2%) to the person they cared for. A perception that it was 'very important' to have a positive influence on these behaviours was positively related with promotion of each of the four behaviours, with those holding such a view being more likely to promote such behaviours, than those who did not (odds ratio: 9.47-24.13, p mental illness.
Shastry, B S; Trese, M T
Incontinentia pigmenti (IP) is an ectodermal multisystem disorder which can affect dental, ocular, cardiac and neurologic structures. The ocular changes of IP can have a very similar appearance to the retinal detachment of X-linked familial exudative vitreoretinopathy, which has been shown to be caused by the mutations in the Norrie disease gene. Therefore, it is of interest to determine whether similar mutations in the gene can account for the retinal pathology in patients with IP. To test our hypothesis, we have analyzed the entire Norrie disease gene for a family with IP, by single strand conformational polymorphism followed by DNA sequencing. The sequencing data revealed no disease-specific sequence alterations. These data suggest that ocular findings of IP are perhaps associated with different genes and there is no direct relationship between the genotype and phenotype. Copyright 2000 S. Karger AG, Basel
Patel, Bipen D; Coxson, Harvey O; Pillai, Sreekumar G
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...... to airflow obstruction in COPD. These phenotypes show independent aggregation within families of individuals with COPD, suggesting that different genetic factors influence these disease processes....... the severity of airway wall thickening and emphysema. MEASUREMENTS AND MAIN RESULTS: A total of 3,096 individuals were recruited to the study, of whom 1,159 (519 probands and 640 siblings) had technically adequate high-resolution computed tomography scans without significant non-COPD-related thoracic disease...
Carlene J. Wilson
Full Text Available Abstract Background 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. Methods 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
Wilson, Carlene J; de la Haye, Kayla; Coveney, John; Hughes, Donna L; Hutchinson, Amanda; Miller, Caroline; Prichard, Ivanka; Ward, Paul; Koehly, Laura M
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
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
Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel
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.
Camras, Linda; Kolmodin, Karen; Chen, Yinghe
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),…
Xiao, Xiangzhu; Yuan, Jue; Haïk, Stéphane; Cali, Ignazio; Zhan, Yian; Moudjou, Mohammed; Li, Baiya; Laplanche, Jean-Louis; Laude, Hubert; Langeveld, Jan; Gambetti, Pierluigi; Kitamoto, Tetsuyuki; Kong, Qingzhong; Brandel, Jean-Philippe; Cobb, Brian A.; Petersen, Robert B.; Zou, Wen-Quan
The four glycoforms of the cellular prion protein (PrPC) variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrPSc) in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrPSc 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 (fCJDV180I) or from Thr to Ala at residue 183 (fCJDT183A). Here we report that fCJDV180I, but not fCJDT183A, exhibits a proteinase K (PK)-resistant PrP (PrPres) 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 PrPres species in both fCJDV180I and VPSPr is likewise attributable to the absence of PrPres glycosylated at the first N-linked glycosylation site at residue 181, as in fCJDT183A. In contrast to fCJDT183A, both VPSPr and fCJDV180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181) PrP prior to PK-treatment. Furthermore, PrPV180I with a typical glycoform profile from cultured cells generates detectable PrPres 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 CJDV180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrPC to PrPSc is inhibited, probably by a dominant-negative effect, or by other co-factors. PMID:23527023
Songjie Xu; Yinglong Cao; Xianghua Li; Shiping Wang
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.
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
Bordbar, Mohammad Reza; Modarresi, Farzaneh; Farazi Fard, Mohammad Ali; Dastsooz, Hassan; Shakib Azad, Nader; Faghihi, Mohammad Ali
Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.
Zhang, Xin-Yu; Jiang, Wei-Ying; Chen, Lu-Ming; Chen, Su-Qin
AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND).METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken.RESULTS:Two fam...
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 ...
Chun, Sherlyn; Mays, Violet
This brief report describes parental reaction to a reinforcement strategy used with children in the Kamehameha Early Education Program (KEEP). Staff members report that "Good Work Awards" (GWAs) are viewed favorably by mothers of students. GWAs are dittoed notes sent home with children when they have met a minimum criterion for daily…
Zhang, Tian-xiao; Zhao, Xiu-li; Hua, Rui; Zhang, Jin-song; Zhang, Xue
To detect the pathogenic mutation in a Chinese family with Norrie disease. Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence. The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members. Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation. His mother and other four unaffected members (III3, IV4, III5 and II2) were carriers of this mutation. The mutant amino acid located in the C-terminal cystine knot-like domain, which was critical motif for the structure and function of NDP. A NDP missense mutation was identified in a Chinese family with Norrie disease.
Grosskopf, Courtney; Desai, Bhavik; Stoopler, Eric T
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.
Chan, Ellen; Barnes, Morgan E.; Sharif, Omar
Context: Public Health Ontario (PHO) publishes various infectious disease surveillance reports, but none have yet been formally evaluated. Objective: PHO evaluated its monthly and annual infectious disease surveillance reports to assess public health stakeholders' current perception of the products and to develop recommendations for improving future products. Design: An evaluation consisting of an online survey and a review of public Web sites of other jurisdictions with similar annual report...
Dickinson, Joanne L; Sale, Michèle M; Passmore, Abraham; FitzGerald, Liesel M; Wheatley, Catherine M; Burdon, Kathryn P; Craig, Jamie E; Tengtrisorn, Supaporn; Carden, Susan M; Maclean, Hector; Mackey, David A
To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease and retinopathy of prematurity (ROP). A dataset comprising 13 Norrie-FEVR, one Coat's disease, 31 ROP patients and 90 ex-premature babies of Norrie disease patients. Furthermore, a previously described 14-bp deletion located in the 5' unstranslated region of the NDP gene was detected in three cases of regressed ROP. A second heterozygotic 14-bp deletion was detected in an unaffected ex-premature girl. Only two of the 13 Norrie-FEVR index cases had the full features of Norrie disease with deafness and mental retardation. Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non-coding region was associated with only mild-regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full-term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long-term outcome.
Boer, J M; Feskens, E.J.; Verschuren, W M Monique; Seidell, J C; Kromhout, D.
We investigated the impact of family history of myocardial infarction on 12-year coronary heart disease mortality. Men and women with a family history had an increased risk for coronary heart disease death, irrespective of other risk factors (RR = 1.58; 95% CI = 1.17-2.13 and RR = 2.12; 95% CI =
Sciauvaud, J; Rigal, E; Pascal, J; Nourrisson, C; Poirier, P; Poirier, V; Vidal, M; Mrozek, N; Laurichesse, H; Beytout, J; Labbe, A; Lesens, O
Internationally adopted children may suffer from different pathologies, including infectious diseases contracted in the country of origin. We evaluated the frequency of infectious diseases that may disseminate from adoptees to adoptive families on their arrival in France. All children who attended the clinic for international adoption in Clermont-Ferrand from January 2009 through to December 2011 were eligible for inclusion in the study. Standardized medical records dedicated to international adoption were retrospectively reviewed for demographic data, clinical diagnosis, and biological and radiological results. Data were completed by phone interviews with adoptive families after informed consent. One hundred and forty-two medical records were retrospectively reviewed and 86% of families agreed to be interviewed. One hundred and seventy-one potentially transmissible infections were diagnosed in 142 children, 12% (n = 20) of which were transmitted to adoptive families. Most of these infections were benign and transmission was restricted to the close family. Tinea was diagnosed in 44 adoptees and transmitted in 15 cases. Panton Valentine leukocidin producing methicillin-sensitive S. aureus (MSSA) was transmitted to an adoptive father who required hospitalization for bursitis. Transmission also occurred for CMV (n = 1), hepatitis A (n = 1), giardiasis (n = 1), scabies (n = 1), Moluscum (n = 2) and pediculosis (n = 2). Two cases of chronic hepatitis B and latent tuberculosis were diagnosed without subsequent transmission. In conclusion, infectious diseases are common in internationally adopted children and should be detected shortly after arrival to avoid transmission. © 2013 The Authors Clinical Microbiology and Infection © 2013 European Society of Clinical Microbiology and Infectious Diseases.
Iburg, Kim Moesgaard; Rasmussen, Niels Kristian; Avlund, Kirsten
, more frequently than males, reported on all symptoms and all disease groups except injuries. People with relatively low levels of education reported most diseases, especially musculoskeletal and cardiovascular diseases, more frequently than people with higher education. Age-adjusted mean SF-36 scores...... for all dimensions combined showed that the symptoms of melancholy/depression and breathing difficulties, psychiatric disorders and respiratory diseases scored lowest (i.e. were most often associated with worse health). Females had lower SF-36 combined scores (worse health) than males on all symptoms. We......OBJECTIVE: To estimate and rank the relative severity of self-reported diseases and symptoms in Denmark. METHOD: The 1994 Danish Health and Morbidity Survey collected data from 5,472 Danes older than 16 years of age. Interviews (response frequency: 79%) gave information on diseases and symptoms...
C.M. van Duijn (Cornelia); 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)
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
Tracy L. Schumacher
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.
Schumacher, Tracy L; Burrows, Tracy L; Thompson, Deborah I; Spratt, Neil J; Callister, Robin; Collins, Clare E
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.
Li Rungen; Jiao Xinqiang; Chen Zhilie; Lu Jun; Gao Xin
Objective: To improve the recognition and diagnosis of pseudohypoparathyroidism (PhP). Methods: Six subjects with PhP of 4 generations in one family were investigated and studied. There were 4 males (including 2 deaths) and 2 females. The age of 4 surviving patients was from 8 to 55 years. All cases were proved by clinical biochemistry tests. Plain film of hands and head CT scans were performed in 2 selected patients. Results: The somatotype of Albright hereditary osteodystrophy (AHO) and short fingers and toes were found in all cases. Radiologic features were as follows: (1) short metacarpals and phalanges. (2) skull thickening and symmetrical calcification of basal ganglia. Conclusion: The diagnosis of PHP can be established by close combination of radiologic findings and clinical manifestations
Tang, X Z; Zeng, Q; Liu, D S
Objective: To perform a cost-benefit analysis of the occupational disease reporting system in China, and to provide a basis for effective resource allocation. Methods: The data on the cost of occupational diseases were collected from China Health Statistics Yearbook 2013, the estimated benefit data were collected from published articles in China and foreign countries, and the probability data were collected from the occupational diseasereports published by health and family planning administrative departments. Adecision-making tree was used for the cost-benefit analysis. Results: The estimated cost of occupational disease reporting was about 102.47 million yuan/year, consisting of a cost of reporting in national medical institutions of 1.25 million yuan/year, a management cost of 30.35 million yuan/year, a management cost in local public health institutions of 69.80 million yuan/year, a management cost in national public health institutions of 370 thousand yuan/year, and a cost of construction and maintenance of reporting system of 700 thousand yuan/year. The results of the decision tree analysis showed that when an occupational disease monitoring system was established, the incremental input for occupational disease monitoring and prevention/control was 2.1 billion yuan/year, the output was 6.5 billion yuan/year, and the benefit of occupational disease reporting system was 4.4 billion yuan/year. Conclusion: The benefit of occupational disease reporting system depends on the cost-benefit of occupational disease prevention and control measures, and proper prevention and control measures are extremely important for improving the benefit of occupational disease reporting system.
Full Text Available Osteonecrosis is defined as the death of bone due to interruption of the blood supply to the bone. Kienböck’s disease is osteonecrosis of lunate bone as a result of heavy repetitive loading on wrist. We planned to present a 39-year-old patient having pain, swelling and limitation of range of motion (ROM in right wrist, because Kienböck’s disease should be into account in differential diagnosis of such patients. X-ray of the right wrist of patient demonstrated sclerosis, cystic appearance and irregularity in lunate bone. Irregularities, loss of volume and diffuse low-intensity appearance were observed in lunate bone on T1-weighted MR images. T2-weighted fat-saturated MR images demonstrated diffuse hyperintensity in the same areas which is suggested bone-marrow edema. These findings were determined as the changes with related osteonecrosis of the lunate bone. Resting splint and antiinflammatory treatment were given to the patient. The patient was consulted to the department of orthopedics and traumatology. Patient refused operation. Pain, swelling and limitation of ROM of the patients improved after 3 weeks. In conclusion, Kienböck’s disease should be into account in the differential diagnosis of patients having pain, swelling and limitation of ROM in wrist. (From the World of Osteoporosis 2009;15:26-8
Abdalla, E. M.; Morsy, H.
Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was ...
Li, Kang; Liu, Liping; Clausen, Jesper Hedegaard
chemicals are used to prevent and control diseases and manage pond environments. This questionnaire-based interview study with aquaculture farmers aimed to describe disease management practices and chemical usage patterns by farmers. Tilapia grow-out farmers (25) mainly reported streptococcosis (9...... for disease treatment. Tilapia and shrimp farmers obtained more and more technical service from staff in chemical shops, chemical and feed companies on diagnosing and treatment of diseases, and acquired information about prudent and safe application practices of chemicals more easily from different pathways...... in recent years. However, many farmers from small family farms still mainly relied on their own experiences. The study shows the improving in aquaculture practicing in China, but still an urgent need to increase farmer’s knowledge on how to prevent and control diseases and use chemicals, including...
Jessica J Connelly
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.
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.
Dabija, Dominique I; Gao, Chan; Edwards, Todd L; Kuhn, John E; Jain, Nitin B
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.
Talebi, Farah; Ghanbari Mardasi, Farideh; Mohammadi Asl, Javad; Lashgari, Ali; Farhadi, Freidoon
Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis. Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out prenatal diagnosis by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Copyright© by Royan Institute. All rights reserved.
Chen, Z Y; Battinelli, E M; Fielder, A; Bundey, S; Sims, K; Breakefield, X O; Craig, I W
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.
Echahdi, Hanae; El Hasbaoui, Brahim; El Khorassani, Mohamed; Agadr, Aomar; Khattab, Mohamed
Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL). Von willebrand factor is a complex multimeric protein with two functions: it forms a bridge between the platelets and areas of vascular damage and it binds to and stabilizes factor VIII, which is necessary for the clotting cascade. By taking a clinical history of bleeding (mucocutaneous bleeding symptoms suggestive of a primary haemostatic disorder, a quantitative or qualitative abnormality of VWF is possible) it is important to think about VWD and to make the appropriate diagnosis. If the VWD is suspected diagnostic tests should include an activated partial thromboplastin time, bleeding time, factor VIII: C Ristocetin cofactor and vWF antigen. Additional testing of ristocetin induced plattlet adhesion (RIPA) the multimeric structure and collagen binding test and genanalysis allow diagnosing the different types of von. Willebrand Disease. The treatment of choice in mild forms is the synthetic agent desmopressin. In patients with severe type 1, type 2B, 2N and type 3 or in people who do not response to desmopressin, the appropriate treatment is a factor VIII concentrate that is rich of VWF. We report a case of infant in 27-month-old boy who had been referred due to haemorrhagic shock. His birth histories, his familie's social history and developmental milestones were unremarkable. He was born at full term with no antenatal or perinatal complications. Prior to
Akinsolu, Folahanmi Tomiwa; de Paiva, Vitor Nobre; Souza, Samuel Santos; Varga, Orsolya
"Neglected Tropical Diseases" (NTDs) affect millions of people in Africa, Asia and South America. The two primary ways of strategic interventions are "preventive chemotherapy and transmission control" (PCT), and "innovative and intensified disease management" (IDM). In the last 5 years, phenomenal progress has been achieved. However, it is crucial to intensify research effort into NTDs, because of the emerging drug resistance. According to the World Health Organization (WHO), the term NTDs covers 17 diseases, namely buruli ulcer, Chagas disease, dengue, dracunculiasis, echinococcosis, trematodiasis, human African trypanosomiasis, leishmaniasis, leprosy, lymphatic filariasis, onchocerciasis, rabies, schistosomiasis, soil-transmitted helminthes, taeniasis, trachoma, and yaws. The aim of this study is to map out research and development (R&D) landscape through patent analysis of these identified NTDs. To achieve this, analysis and evaluation have been conducted on patenting trends, current legal status of patent families, priority countries by earliest priority years and their assignee types, technological fields of patent families over time, and original and current patent assignees. Patent families were extracted from Patseer, an international database of patents from over 100 patent issuing authorities worldwide. Evaluation of the patents was carried out using the combination of different search terms related to each identified NTD. In this paper, a total number of 12,350 patent families were analyzed. The main countries with sources of inventions were identified to be the United States (US) and China. The main technological fields covered by NTDs patent landscape are pharmaceuticals, biotechnology, organic fine chemistry, analysis of biological materials, basic materials chemistry, and medical technology. Governmental institutions and universities are the primary original assignees. Among the NTDs, leishmaniasis, dengue, and rabies received the highest number of
Full Text Available We describe a rare but typical case of Kikuchi-Fujimoto disease (KFD. Two subcutaneous nodules appeared suddenly on the right of the neck of a 15-year-old girl. Microscopy of a surgical specimen of the larger nodule showed necrotizing lymphadenitis. Prompt treatment with mepirizole resulted in the disappearance of the smaller nodule. No recurrence was noted during 6 months of follow-up. KFD is a rare, self-limiting, necrotizing histiocytic lymphadenitis that needs to be differentiated from malignant lymphoma. Any nodal biopsy showing fragmented nuclei, necrosis, and karyorrhexis without prominent neutrophils should alert the physician to consideration of KFD, especially in a young woman presenting with cervical lymphadenopathy.
Bailey, Charles L.
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.
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.'
Gök, Kevser; Cengiz, Gizem; Erol, Kemal; Ozgocmen, Salih
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.
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.
Mughal, A.R.; Sidiq, M.; Hyder, S.N.; Qureshi, A.U.
Objective: To assess the socioeconomic status, treatment being offered and the impact of congenital heart disease treatment on families. Study Design: Observational study. Place and Duration of Study: The Children's Hospital / Institute of Child Health, Lahore, from first March to 31 August 2010. Methodology: All patients undergoing a cardiac surgical or angiographic intervention were enrolled. Socioeconomic status was assessed by Kuppuswamy socioeconomic status scale with income group modification. The impact was measured by the source of financing, effect on family financing source and schooling and health of siblings. Results: Of 211 patients undergoing treatment in the study period, surgery was the definitive treatment in 164 (77.7%) and angiographic intervention in 47 (22.3%) patients. Male to female ratio was 1.5:1. The mean age of the patient was 39.1 +- 3.2 months (range 01 day to 15 years). Majority of families belonged to middle (66.4%, n=140) and lower (27%, n=57) socioeconomic class. The mean cost of medicines and disposable was PKR 78378.2 +- 8845.9 (US$ 933.1 +- 105.3) in open heart surgery, PKR 12581 +- 7010.8 (US$ 149.8 +- 83.5) in closed heart surgery and PKR 69091 + 60906 in angiographic interventions. In 63.1% patients, families contributed towards these costs either completely (12.3%) or partly (50.8%) with significant contribution from the hospital. Adverse effect on families ranged from leave without pay to losing jobs or business (46%), and selling their assets (11.3%). It also affected schooling and health of siblings (22.7% and 26.1% respectively). Conclusion: Majority of children with congenital heart disease belonged to middle and lower socioeconomic status in this study. Main definitive treatment was surgery. The cost of health care facilities posed a marked socioeconomic burden on those families. (author)
Mughal, Abdul Razzaq; Sadiq, Masood; Hyder, Syed Najam; Qureshi, Ahmad Usaid; A Shah, S Salman; Khan, Mohammad Asim; Nasir, Jamal Abdul
To assess the socioeconomic status, treatment being offered and the impact of congenital heart disease treatment on families. Observational study. The Children's Hospital / Institute of Child Health, Lahore, from 1st March to 31st August 2010. All patients undergoing a cardiac surgical or angiographic intervention were enrolled. Socioeconomic status was assessed by Kuppuswamy socioeconomic status scale with income group modification. The impact was measured by the source of financing, effect on family financing source and schooling and health of siblings. Of 211 patients undergoing treatment in the study period, surgery was the definitive treatment in 164 (77.7%) and angiographic intervention in 47 (22.3%) patients. Male to female ratio was 1.5:1. The mean age of the patient was 39.1 + 3.2 months (range 01 day to 15 years). Majority of families belonged to middle (66.4%, n=140) and lower (27%, n=57) socioeconomic class. The mean cost of medicines and disposables was PKR 78378.2 ± 8845.9 (US$ 933.1 ± 105.3) in open heart surgery, PKR 12581 ± 7010.8 (US$ 149.8 ± 83.5) in closed heart surgery and PKR 69091 + 60906 in angiographic interventions. In 63.1% patients, families contributed towards these costs either completely (12.3%) or partly (50.8%) with significant contribution from the hospital. Adverse effect on families ranged from leave without pay to losing jobs or business (46%), and selling their assets (11.3%). It also affected schooling and health of siblings (22.7% and 26.1% respectively). Majority of children with congenital heart disease belonged to middle and lower socioeconomic status in this study. Main definitive treatment was surgery. The cost of health care facilities posed a marked socioeconomic burden on those families.
Madsen, Mia; Andersen, Per Kragh; Gerster, Mette
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...
Jensen, J M; Gerdes, Lars Ulrik; Jensen, H K
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......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......: traditional risk factors of CHD (age, sex, cholesterol, hypertension, smoking and body mass index), cholesterol year score, and aortic as well as coronary calcium measured by spiral computed tomography (CT). SUBJECTS: We invited 88 individuals with molecularly defined FH of whom 80 (91%) decided...
Alves, Thaís Coelho; Cola, Paula Cristina; Santos, Rarissa Rúbia Dallaqua Dos; Motonaga, Suely Mayumi; Silva, Roberta Gonçalves da
Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.
Bal Aswine K
Full Text Available Abstract Introduction Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. Case presentation We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG and aspirin. Conclusion This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.
Bal, Aswine K; Kairys, Steven W
Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG) and aspirin. This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.
This article is concerned with understanding moral aspects of everyday life in families with Huntington's Disease (HD). It draws on findings from an empirical research project in Denmark in 1998-2002 involving multi-sited ethnography to argue that medical genetics provides a particular framework for conducting life in an HD family. A framework that implies that being informed and making use of genetic services expresses greater moral responsibility than conducting life without drawing on these resources. The moral imperative of engagement in medical genetics is challenged here by two pieces of ethnographic analysis. The first concerns a person who, as described by a family member, does not engage with medical genetics but who brings to the fore other culturally legitimate concerns, priorities and areas of responsibility. The second figures a genetic counselling session where neither the knowledge 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 of those personally involved centre stage in the development of theoretical stances that aim to assist reflections in practice. Copyright © 2010 Elsevier Ltd. All rights reserved.
Swedlund, Matthew P; Schumacher, Jayna B; Young, Henry N; Cox, Elizabeth D
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 relationships (p communication style and the quality of the ongoing relationship contribute to pediatric chronic disease visit satisfaction.
Full Text Available Niemann-Pick Disease (NPD is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.
Warden, Scott M; Andreoli, Christopher M; Mukai, Shizuo
The Wnt signaling pathway is highly conserved among species and has an important role in many cell biological processes throughout the body. This signaling cascade is involved in regulating ocular growth and development, and recent findings indicate that this is particularly true in the retina. Mutations involving different aspects of the Wnt signaling pathway are being linked to several diseases of retinal development. The aim of this article is to first review the Wnt signaling pathway. We will then describe two conditions, familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND), which have been shown to be caused in part by defects in the Wnt signaling cascade.
Chudinova, T A; Khusnutdinova, Z A
Sociohygienic studies of hygienic knowledge with regard to prevention of dental diseases in children were carried out in 456 mothers and their 15-year-old schoolchildren in Ufa. The respondents were interviewed using specially designed questionnaires. The results allowed the authors characterize the performance of medical functions by parents from families differing by well-being and their role in hygienic upbringing of children.
Crerand, Canice E; Rosenberg, Janine; Magee, Leanne; Stein, Margot B; Wilson-Genderson, Maureen; Broder, Hillary L
To examine family functioning related to sociodemographic and clinical characteristics in youth with cleft lip and/or palate (CL/P). Cross-sectional, multi-site investigation. Six U.S. cleft centers. A diverse sample of 1200 children with CL/P and their parents. Parents completed the Family Environment Scale (FES), which assesses three domains of family functioning: cohesion (or closeness), expressiveness (open expression of feelings), and conflict. Demographic and clinical characteristics were also assessed including race, ethnicity, type of insurance, and surgical recommendations. The FES scores for families seeking team evaluations for their youth with CL/P (mean age = 11.6 years) fall within the average range compared with normative samples. Families receiving surgical recommendations for their youth also had FES scores in the average range, yet families of children recommended for functional surgery reported greater cohesion, expressiveness, and less conflict compared with those recommended for aesthetic surgery (P conflict domain. Families with private insurance reported significantly greater cohesion (P functioning across domains was in the average range. However, observed differences by race, ethnicity, type of insurance, and surgical recommendation may warrant consideration in clinical management for patients and families.
Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek
Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.
Inflammatory bowel disease in children and adolescents often leads to an extremely complex somatic and psychiatric situation. The psychological effect of inflammatory bowel disease warrants further investigation, especially concerning salutogenetic factors that may lead to good mental health despite bad somatic conditions. These studies used a multimethod design comprising both semiquantitative measures, such as rating scales and questionnaires, and qualitative in-depth interviews with both the child and his or her parents. Clinical comparison groups of matched children with diabetes and chronic tension headaches and matched children without chronic physical disease were examined. Inflammatory bowel disease often leads to psychiatric sequelae. Emotional disorders, especially depression and anxiety symptoms, were found to be common. Self-esteem was lowered. A subgroup of children with good mental health despite bad somatic conditions was found. They exhibited certain characteristics, including good knowledge of the disease, an internal locus of control, a good family climate, and an open social network. This study shows that the well-being of a chronically ill child depends not only on the course of the physical disease but also on the psychological and social complications that often seem to accompany a disease of this kind. The importance of taking good care of the psychosocial aspects of inflammatory bowel disease within the comprehensive treatment program is discussed.
Vieira, Marcelo Vasconcelos; Abreu, Marcelo de; Furtado, Claudia Dietz; Silveira, Marcio Fleck da; Furtado, Alvaro Porto Alegre; Genro, Carlos Horacio; Grazziotin, Rossano Ughini
Multiple symmetrical lipomatosis (Madelung's disease) is a rare disorder characterized by deep accumulation of fat tissue, involving mainly the neck, shoulders and chest. This disease is associated with heavy alcohol intake and it is more common in men of Mediterranean origin. This disease can cause severe aesthetic deformities and progressive respiratory dysfunction. We report a case of a patient with multiple symmetrical lipomatosis and describe the clinical and radiological features of this disorder. (author)
Enhancing disease surveillance reporting using public transport in Dodoma District, Central Tanzania. ... LEG Mboera, SF Rumisha, EJ Mwanemile, E Mziwanda, PK Mmbuji ... Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT
IDSR) strategy in 1998 to strengthen disease surveillance and epidemic response. However, the goal of weekly surveillance reporting among health facilities has not been achieved. We conducted a crosssectional study to determine the ...
Nagpal, Swati; Acharya, Anirudh B; Thakur, Srinath L
Crohn's disease (CD) is an inflammatory bowel disease with oral findings, including periodontal manifestations. Anemias, such as iron deficiency and anemia of chronic disease (ACD), are the most common hematologic complications of CD. Periodontitis has systemic effects, and may tend toward anemia, which can be explained by depressed erythropoiesis. In the report presented here, the authors review a case of Crohn's disease diagnosed 10 years previous to the patient presenting with a changing anemic profile and periodontal disease. A discussion of patient and disease management is included.
Klitzman, Robert; Thorne, Deborah; Williamson, Jennifer; Marder, Karen
To understand how individuals at risk for Huntington disease view the roles of others, e.g., family members and health care workers, in decision making about genetic testing. Twenty-one individuals (eight mutation-positive, four mutation-negative, and nine not tested) were interviewed for approximately 2 hours each. Interviewees illuminated several key aspects of the roles of family members and health care workers (in genetics and other fields) in decision making about testing that have been underexplored. Family members often felt strongly about whether an individual should get tested. Health care workers provided information and assistance with decision making and mental health referrals that were often helpful. Yet health care workers varied in knowledge and sensitivity regarding testing issues, and the quality of counseling and testing experiences can range widely. At times, health care workers without specialized knowledge of Huntington disease offered opinions of whether to test. Input from families and health care workers could also conflict with each other and with an individual's own preferences. Larger institutional and geographic contexts shaped decisions as well. Decision-making theories applied to Huntington disease testing have frequently drawn on psychological models, yet the current data highlight the importance of social contexts and relationships in testing decisions. This report, the first to our knowledge to explore individuals' perceptions of social factors (particularly family and health care worker involvement) in Huntington disease testing decisions, has critical implications for practice, education, research, and policy.
Nina van Beek
Full Text Available The autosomal dominant Hailey Hailey disease (HHD is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1 in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. By NGS of one HHD-patient and in silico SNP calling and SNP filtering we identified a SNP in the expected ATP2C1 gene and SNPs in further ATPase genes. Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5 were identified. The SNPs rs138177421 in the ATP9B gene and rs2280268 in the ATP13A5 gene were detected in all 3 affected, but not in 2 non affected family members. The SNPs in the ATP2B3 and ATP11A gene as well as further SNPs in the ATP13A5 gene could not be confirmed in all affected family members. One may speculate that besides the level of functional hSPCA1 protein, levels of other ATPase proteins may influence expressivity of the disease and might also contribute, as in this case, to atypical presentations.
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.
Dai, Baozhen; Mao, Zongfu; Wu, Bei; Mei, Y John; Levkoff, Sue; Wang, Huali
This study examined the perception of Alzheimer's disease (AD) and caregiving among family caregivers of individuals with mild cognitive impairment (MCI) and AD in China. In-depth semistructured interviews were conducted with 46 family caregivers of individuals with cognitive impairment in 2009 in Wuhan and Beijing, China. Participants included 38 spouses, 7 adult children, and 1 sibling, aged between 41 and 85 years old. The findings showed that all family caregivers thought the Chinese terminology of AD laonian chidai, brought discrimination to individuals with cognitive impairment. Caregivers of individuals with AD experienced burden and desired an increase of formal services. Traditional beliefs of respecting elders and caring for extended family members were held among family caregivers of individuals with cognitive impairment, and there was nearly no difference found between caregivers of AD and those of MCI. It implied that traditional culture provided positive influences on caring for elders with cognitive impairment. An alternative term for MCI may contribute to further reducing the discrimination brought by the old Chinese terminology of AD laonian chidai. Development of formal services for elders with cognitive impairment may contribute to reducing caregivers' worries about future caregiving.
Sanjay N. Agrawal
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.
Haaksma-Schaafsma, S. C.; van Dijk, P.; Dikkers, F. G.
Objective: Description of a female patient with diagnosed Kjer's disease and sensorineural hearing loss, who specifically complained of a progressive inability to understand speech in noisy situations. Design: Case report. Subject: A 30-year-old, Caucasian woman with Kjer's disease. Results:
... lesion of uncertain origin. It is linked to an autosomal- dominant phakomatosis known as Cowden's disease in 40% of patients. The MRI features of LDD are almost unique and can be considered diagnostic. We report on a patient who presented with the typical MRI features of the above disease, and discuss the imaging ...
Hexsel, Fernando Fernandez; Suwa, Eiji; Aguiar, Paula Musa; Maciel, Antonio Carlos; Hospital de Clinicas de Porto Alegre, RS
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, affecting multiple organ system, involving bones, central nervous system, eyes, lungs, mediastinum, kidneys and retroperitoneum. The authors report two cases that progressed with the typical presentation of the disease. Radiological findings were in agreement with literature and guided the diagnosis, confirmed by immunohistochemistry. (author)
Jang, Han Won [Yeungnam University College of Medicine, Daegu (Korea, Republic of)
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.
Mejía-Turizo, Juan Carlos
Full Text Available We report the case of a patient with Gaucher disease (GD type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P (L444P. Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.
Full Text Available Fu-Chao Liu,1,2,* Huan-Tang Lin,1,2,* Chang-Fu Kuo,2–4 Mei-Yun Hsieh,4 Lai-Chu See,3,5,6 Huang-Ping Yu1,2,7 1Department of Anesthesiology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 2College of Medicine, Chang Gung University, Taoyuan, Taiwan; 3Division of Rheumatology, Allergy and Immunology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 4Office for Big Data Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 5Department of Public Health, College of Medicine, Chang Gung University, Taoyuan, Taiwan; 6Biostatistics Core Laboratory, Molecular Medicine Research Center, Chang Gung University, Taoyuan, Taiwan; 7Department of Anesthesiology, Xiamen Changgung Hospital, Xiamen, China *These authors contributed equally to this work Background: Individuals with a family history of Parkinson’s disease (PD appear to have a higher risk of developing PD and other neuropsychiatric diseases. However, estimates of the relative risks (RRs of PD and the roles of genetic and environmental factors in PD susceptibility are unclear. The aim of this study was to examine familial aggregation and genetic contributions to PD and the RRs of other neuropsychiatric diseases in relatives of PD patients. Methods: In this population-based family cohort study, the records of all individuals actively registered in the Taiwan National Health Insurance Research Database in 2015 were queried (N=24,349,599. In total, 149,187 individuals with a PD-affected parent, 3,698 with an affected offspring, 3,495 with an affected sibling, and 15 with an affected twin were identified. Diagnoses of PD were ascertained between January 1, 1999, and December 31, 2015. The prevalence and RRs of PD and other neuropsychiatric diseases in individuals with first-degree relatives with PD, as well as the contributions of heritability and environmental factors to PD susceptibility were investigated. Results: The prevalence of PD was 0.46% in the general population and 0.52% in individuals with
Full Text Available Abstract Introduction Kimura's disease is a chronic inflammatory condition belonging to the angio-lymphatic proliferative group of disorders, usually affecting young men of Asian race, but is rare in Western countries. It is a benign but locally injurious disease, of unknown aetiology, whose classical clinical features are a tumour-like swelling, usually in the head and neck, with or without satellite lymphadenopathy, often accompanied by eosinophilia and elevated serum IgE. Case presentation We report the case of a 33-year-old Caucasian woman with an atypical localization of Kimura's disease, discussing the anaesthesiological implications and reviewing the current literature on Kimura's disease. Conclusions The diagnosis of Kimura's disease can be difficult and misleading, and anaesthesiological precautions could be ignored. Patients with this disease are often evaluated for other disorders: unnecessary diagnostic tests and investigations, or even surgery, may be avoided by just being aware of Kimura's disease.
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.
Neal Scott J
Full Text Available Abstract Background Many cases of frontotemporal dementia (FTD are familial, often with an autosomal dominant pattern of inheritance. Some are due to a mutation in the tau- encoding gene, on chromosome 17, and show an accumulation of abnormal tau in brain tissue (FTDP-17T. Most of the remaining familial cases do not exhibit tau pathology, but display neuropathology similar to patients with dementia and motor neuron disease, characterized by the presence of ubiquitin-immunoreactive (ub-ir, dystrophic neurites and neuronal cytoplasmic inclusions in the neocortex and hippocampus (FTLD-U. Recently, we described a subset of patients with familial FTD with autopsy-proven FTLD-U pathology and with the additional finding of ub-ir neuronal intranuclear inclusions (NII. NII are a characteristic feature of several other neurodegenerative conditions for which the genetic basis is abnormal expansion of a polyglutamine-encoding trinucleotide repeat region. The genetic basis of familial FTLD-U is currently not known, however the presence of NII suggests that a subset of cases may represent a polyglutamine expansion disease. Methods We studied DNA and post mortem brain tissue from 5 affected members of 4 different families with NII and one affected individual with familial FTLD-U without NII. Patient DNA was screened for CAA/CAG trinucleotide expansion in a set of candidate genes identified using a genome-wide computational approach. Genes containing CAA/CAG trinucleotide repeats encoding at least five glutamines were examined (n = 63, including the nine genes currently known to be associated with human disease. CAA/CAG tract sizes were compared with published normal values (where available and with those of healthy controls (n = 94. High-resolution agarose gel electrophoresis was used to measure allele size (number of CAA/CAG repeats. For any alleles estimated to be equal to or larger than the maximum measured in the control population, the CAA/CAG tract
Full Text Available IntroductionTrigeminal neuralgia is a disorder characterized by unilateral electric shock-like pain, distributed in one or more trigeminal nerve branches and triggered by usually innocuous stimuli. Among the few case reports and literature reviews on familial trigeminal neuralgia (FTN, the results of several suggest the involvement of genes associated with biochemical alterations or atherosclerotic vascular malformations.BackgroundWe present four cases of FTN within two families (family A: two brothers; family B: two sisters. All patients were submitted to surgical treatment by the same surgeon.DiscussionCases 1 and 2 (family A exhibited FTN with an uncommon autosomal recessive pattern and clinical features consistent with previous literature reviews and case reports. However, in cases 3 and 4 (family B, we found FTN with a dominant autosomal pattern and an unusual physiopathology characterized by arachnoid adhesions.ConclusionWe conclude, in this case report, that there are several inheritance patterns as well as physiopathology that may be involved in FTN, and that both patterns described in our reported cases were successfully managed with surgery.
Li, G; Aryan, M; Silverman, J M; Haroutunian, V; Perl, D P; Birstein, S; Lantz, M; Marin, D B; Mohs, R C; Davis, K L
To examine the validity of the family history method for identifying Alzheimer disease (AD) by comparing family history and neuropathological diagnoses. Seventy-seven former residents of the Jewish Home and Hospital for the Aged, New York, NY, with neuropathological evaluations on record were blindly assessed for the presence of dementia and, if present, the type of dementia through family informants by telephone interviews. The Alzheimer's Disease Risk Questionnaire was used to collect demographic information and screen for possible dementia. If dementia was suspected, the Dementia Questionnaire was administered to assess the course and type of dementia, i.e., primary progressive dementia (PPD, likely AD), multiple infarct dementia, mixed dementia (i.e., PPD and multiple infarct dementia), and other dementias based on the modified Diagnostic and Statistical Manual of Mental Disorders, Third Edition, criteria. Sixty (77.9%) of 77 elderly subjects were classified as having dementia and 17 (22.1%) were without dementia by family history evaluation. Of the 60 elderly subjects with dementia, 57 (95%) were found at autopsy to have had neuropathological changes related to dementia. The sensitivity of the family history diagnosis for dementia with related neuropathological change was 0.84 (57 of 68) and the specificity was 0.67 (6 of 9). Using family history information to differentiate the type of dementia, the sensitivity for definite or probable AD (with or without another condition) was 0.69 (36 of 51) and the specificity was 0.73 (19 of 26). The majority (9 of 15) of patients testing false negative for PPD had a history of stroke associated with onset of memory changes, excluding a diagnosis of PPD. Identifying dementia, in general, and AD, in particular, has an acceptable sensitivity and specificity. As is true for direct clinical diagnosis, the major issue associated with misclassifying AD in a family history assessment is the masking effects of a coexisting non
Ringman, John M.; Schulman, Howard; Becker, Chris; Jones, Ted; Bai, Yuchen; Immermann, Fred; Cole, Gregory; Sokolow, Sophie; Gylys, Karen; Geschwind, Daniel H.; Cummings, Jeffrey L.; Wan, Hong I.
Objective To identify cerebrospinal fluid (CSF) protein changes in persons who will develop familial Alzheimer disease (FAD) due to PSEN1 and APP mutations, using unbiased proteomics. Design We compared proteomic profiles of CSF from individuals with FAD who were mutation carriers (MCs) and related noncarriers (NCs). Abundant proteins were depleted and samples were analyzed using liquid chromatography– electrospray ionization–mass spectrometry on a high-resolution time-of-flight instrument. Tryptic peptides were identified by tandem mass spectrometry. Proteins differing in concentration between the MCs and NCs were identified. Setting A tertiary dementia referral center and a proteomic biomarker discovery laboratory. Participants Fourteen FAD MCs (mean age, 34.2 years; 10 are asymptomatic, 12 have presenilin-1 [PSEN1] gene mutations, and 2 have amyloid precursor protein [APP] gene mutations) and 5 related NCs (mean age, 37.6 years). Results Fifty-six proteins were identified, represented by multiple tryptic peptides showing significant differences between MCs and NCs (46 upregulated and 10 downregulated); 40 of these proteins differed when the analysis was restricted to asymptomatic individuals. Fourteen proteins have been reported in prior proteomic studies in late-onset AD, including amyloid precursor protein, transferrin, α1β-glycoprotein, complement components, afamin precursor, spondin 1, plasminogen, hemopexin, and neuronal pentraxin receptor. Many other proteins were unique to our study, including calsyntenin 3, AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) 4 glutamate receptor, CD99 antigen, di-N-acetyl-chitobiase, and secreted phosphoprotein 1. Conclusions We found much overlap in CSF protein changes between individuals with presymptomatic and symptomatic FAD and those with late-onset AD. Our results are consistent with inflammation and synaptic loss early in FAD and suggest new presymptomatic biomarkers of potential usefulness in drug
Hanan AL Azkawi
Full Text Available There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age. Due to high triglyceride levels, Gemfibrozil (a fibric acid derivative was started at diagnosis. Close clinical followup and laboratory monitoring of these children showed no side effects from the drug, and the risk of acute pancreatitis was significantly reduced.
Loves Sandra SCM
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.
Full Text Available Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the quality of life may be affected in such patients. Therefore, physicians should not delay the evaluation in such cases and promptly initiate treatment to not only improve quality of life but to also avoid complications, such as amyloidosis. This study reports two different cases of familial Mediterranean fever, with varying clinical presentations, and established diagnosis via genetic testing as well as cessation of symptoms with a trial of therapy. Furthermore, this study discusses the various manifestations of familial Mediterranean fever, laboratory findings, and current therapies available for management.
Ben-Gashir, M A; Seed, P T; Hay, R J
Atopic dermatitis (AD) can be traumatizing to family life. Little is known about the relationship between quality of life in AD and disease severity. To document family quality of life and relate this to severity of AD in children, for a 6-month period from a given point in time. These data are part of a longitudinal study conducted in two parts of the UK to investigate risk factors for AD severity and its impact on quality of life. and methods Thetargetedpopulation comprised children with AD aged 5-10 years in a primary-care setting. The general practitioners identified potential subjects and the UK diagnostic criteria for AD were used to verify the diagnosis. Both the children and their parents were interviewed. Eczema severity was assessed using a modified form of the SCORAD (SCORe Atopic Dermatitis) Index (SCORAD-D) from which parents' score of itching and sleep loss were excluded. The quality of family life was quantified by the Dermatitis Family Impact (DFI) questionnaire. These two parameters were evaluated on two occasions 6 months apart. Multiple regression analysis was used to investigate the relationship between the quality of family life and the severity of the AD in the children, at a specific point in time and over the following 6-month period. Of the 116 children attending the first visit, mean age 8 years, 106 attended the second visit (91%) and were included in the analysis. Quality of family life was shown to be significantly affected in 48 (45%) cases at the first visit and 38 (36%) cases at the second visit. The initial means of the DFI and SCORAD-D were 2.4 and 8.2, respectively. Six months later the mean final DFI and SCORAD-D were 1.9 and 7.7, respectively. Using multiple regression on the first and second visits, each unit increase in SCORAD-D was associated with 0.21 [95% confidence interval (CI) 0.06-0.37 P = 0.008] and 0.37 (95% CI 0.15-0.59, P = 0.001) units increase in quality of family life, respectively. This relationship remained
Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th
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). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.
Michael V. Zaragoza
Full Text Available Dupuytren’s disease (palmar fibromatosis involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers. The proband and six family members were evaluated for the cardiac and hand/feet phenotypes and tested for the LMNA mutation. Fibroblast RNA studies revealed monoallelic expression of the normal LMNA allele and reduced lamin A/C mRNAs consistent with LMNA haploinsufficiency. A novel, heterozygous missense variant (c.230T>C, p.Val77Ala in the Asteroid Homolog 1 (ASTE1 gene was identified as a potential risk factor in fibrotic disease using exome sequencing and family studies of five family members: four LMNA mutation carriers with fibromatosis and one individual without the LMNA mutation and no fibromatosis. With a possible role in epidermal growth factor receptor signaling, ASTE1 may contribute to the increased risk for palmar/plantar fibromatosis in patients with Lamin A/C haploinsufficiency.
Porteri, Corinna; Petrini, Carlo
Alzheimer's disease is a very common, progressive and still incurable disease. Future possibilities for its cure lie in the promotion of research that will increase our knowledge of the disorder's causes and lead to the discovery of effective remedies. Such research will necessarily involve individuals suffering from Alzheimer's disease. This raises the controversial issue of whether patients with Alzheimer's disease are competent to give their consent for research participation. We discuss the case of subjects with Alzheimer's disease who may have impaired decision-making capacity and who could be involved in research protocols, taking into consideration aspects of the Italian normative framework, which requires a court-appointed legal representative for patients who are not able to give consent and does not recognise the legal value of advance directives. We show that this normative framework risks preventing individuals with Alzheimer's disease from taking part in research and that a new policy that favours research while promoting respect for patients' well-being and rights needs to be implemented. We believe that concerns about the difficulty of obtaining fully valid consent of patients with Alzheimer's disease should not prevent them from participating in clinical trials and benefiting from scientific progress. Therefore, we argue that the requirement for patients to have a legal representative may not be the best solution in all countries and clinical situations, and suggest promoting the role of patients' family members in the decision-making process. In addition, we outline the possible role of advance directives and ethics committees.
Full Text Available Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD. Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7% carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28 or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26. Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.
Yurube, Takashi; Kakutani, Kenichiro; Okamoto, Koji; Manabe, Michihiko; Maeno, Koichiro; Yoshikawa, Masaho; Sha, Norihide; Kuroda, Ryosuke; Nishida, Kotaro
Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complai...
Full Text Available "nLeukocyte adhesion deficiency type 1 (LAD 1 is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1. These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2. In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.
Portincasa, Piero; Di Ciaula, Agostino; Grattagliano, Ignazio
Gallstone formation is the result of a complex interaction between genetic and nongenetic factors. We searched and reviewed the available literature to define how the primary prevention of gallstones (cholesterol gallstones in particular) could be applied in general practice. Electronic bibliographical databases were searched. Prospective and retrospective cohort studies and case-controlled studies were analyzed and graded for evidence quality. The epidemiological data confirmed that genetic factors are estimated to account for only approximately 25% of the overall risk of gallstones, while metabolic/environmental factors are at least partially modifiable in stone-free risk groups, and are thus modifiable by primary prevention measures related to diet, lifestyle, and environmental factors (i.e., rapid weight loss, bariatric surgery, somatostatin or analogues therapy, transient gallbladder stasis, and hormone therapy). There is no specific recommendation for the secondary prevention of recurrent gallstones. Family physicians can contribute to preventing gallstones due to their capability to identify and effectively manage several risk factors discussed in this study. Although further studies are needed to better elucidate the involvement of epigenetic factors that may regulate the effect of environment and lifestyle on gene expression in the primary prevention of gallstone formation, preventive interventions are feasible and advisable in the general practice setting.
Chan, Ellen; Barnes, Morgan E; Sharif, Omar
Public Health Ontario (PHO) publishes various infectious disease surveillance reports, but none have yet been formally evaluated. PHO evaluated its monthly and annual infectious disease surveillance reports to assess public health stakeholders' current perception of the products and to develop recommendations for improving future products. An evaluation consisting of an online survey and a review of public Web sites of other jurisdictions with similar annual reports. For the online survey, stakeholder organizations targeted were the 36 local public health units and the Health health ministry in Ontario, Canada. Survey participants included epidemiologists, managers, directors, and other public health practitioners from participating organizations. Online survey respondents' awareness and access to the reports, their rated usefulness of reports and subsections, and suggestions for improving usefulness; timeliness of select annual reports from other jurisdictions based on the period from data described to report publication. Among 57 survey respondents, between 74% and 97% rated each report as useful; the most common use was for situational awareness. Respondents ranked timeliness as the most important attribute of surveillance reports, followed by data completeness. Among 6 annual reports reviewed, the median time to publication was 11.5 months compared with 23.2 months for PHO. Recommendations based on this evaluation have already been applied to the monthly report (eg, focusing on the most useful sections) and have become key considerations when developing future annual reports and other surveillance reporting tools (eg, need to provide more timely reports). Other public health organizations may also use this evaluation to inform aspects of their surveillance report development and evaluation. The evaluation results have provided PHO with direction on how to improve its provincial infectious disease surveillance reporting moving forward, and formed a basis for
Full Text Available Darier disease is an autosomal-dominant disorder of keratin production which leads to a loss in epithelial adhesion and abnormal keratinization. The clinical correspondence is keratotic papules grouped in sebaceous areas of trunk, scalp, forehead and flexures. It is a rare disease and the variant focused on here of unilateral segmental distribution following the lines of Blaschko is rarer still, considering the fact that this presentation counts for only 10% of this already uncommom disease and with only 40 cases being reported in English medical literature. Mutation in this gene is expressed in the skin and brain. The treatment of Darier disease can be challenging and is often difficult and sometimes unsatisfactory. Systemic retinoids are considered the drug of choice for treating Darier disease. However, their use is limited by potential side effects. We described the case a metalworker male with unilateral segmental Darier disease following Blaschko lines and we review the literature on this subject.
Full Text Available Purpose: To describe the potential role of the Internet as a vehicle for improving integration of care through activating chronic kidney disease patients and their family members. Also, to describe how that potential is being developed through a website sponsored by the Medicare program in the United States. Background: The Internet is expanding at a rapid rate, and health-related websites are one of its most popular features. Efforts to promote integration of care have focused mainly on providers up to now, and more emphasis is needed on the potential roles of patients. Chronically ill patients have particular needs for improved education about their conditions and enhanced involvement in care planning and treatment decisions. Medicare developed the Dialysis Facility Compare website to serve those goals for people with chronic kidney disease. Methods: We conducted qualitative research with 140 chronic kidney disease patients and family members, and 130 renal care professionals to evaluate and improve the Dialysis Facility Compare website. A series of 19 focus groups, 13 triads (small focus groups, and 56 individual interviews were conducted in four regions of the United States and by telephone. Results: We found that the Dialysis Facility Compare website has the potential to improve integration of care for people with chronic kidney disease in at least three ways. First: by expanding the roles of patients as members of the multi-disciplinary team of caregivers treating their disease. Second: through better integration of the informal care provided in the home and community with the formal care provided by health professionals. Third: by improving coordination of between care provided in the pre-dialysis and dialysis phases of the disease. Discussion: We developed recommendations for revising and enhancing the Dialysis Facility Compare website in a number of ways to better promote patient activation and integration of care. The unique features
Gujral Dorothy M
Full Text Available Abstract Introduction Bevacizumab is a monoclonal antibody that inhibits the action of vascular endothelial growth factor (VEGF thereby acting as an angiogenesis inhibitor. As a result, supply of oxygen and nutrients to tissues is impaired and tumour cell growth is reduced. Reported side effects due to bevacizumab are hypertension and increased risk of bleeding. Bowel perforation has also been reported. Periodontal disease in patients on bevacizumab therapy has not been reported before. Case Presentation We report a case of a forty-three year old woman who developed periodontitis whilst receiving bevacizumab for lung cancer. The periodontal disease remained stable on discontinuation of the drug. Conclusion Further investigations are needed to determine the mechanism for bevacizumab-induced periodontal disease.
Livshits, Gregory; Cohen, Zvi; Higla, Orabi; Yakovenko, Konstantin
The present study used computed tomography imaging to evaluate the extent and pattern of the intergenerational transmission of spinal disc degeneration disease (DDD) in complex pedigrees. Contribution of a number of the potential covariates was also studied using univariate and multivariate logistic regression analysis, as well as two types of complex segregation analysis models. Among 161 individuals studied, DDD was diagnosed in 60 individuals. The number of protruded discs varied from 1 to 4, mostly in lumbar or lumbosacral regions. The average age at onset of the disease was similar for both women (36.0 years) and men (34.8 years). The proportion of the individuals affected by the DDD status of their parents ranged from 10% in families of two healthy parents to 55.5% of two affected parents (p < 0.01). The results of the logistic regression analyses and complex segregation analysis were qualitatively the same: DDD status of parents, age and smoking were the main risk factors for disc herniation in the Arabic families we examined. All analyses showed a predominating role of the family history as a risk factor for DDD in offsprings. It showed, for example, four times higher risk at age 50 for individuals with two affected parents vs. those who have two non-affected parents. However, the results of models-fitting genetic analysis, did not confirm a monogenic Mendelian pattern of inheritance
Walsh, Patrick T; Fallon, Padraic G
The recently discovered interleukin (IL)-36 family of cytokines form part of the broader IL-1 family and are emerging as important mediators of inflammatory disease. The IL-36 subfamily consists of three ligands-IL-36α, IL-36β, and IL-36γ-and the natural antagonist IL-36Ra. The cytokines exert their effects through a specific IL-36 receptor consisting of IL-36R and IL-1RAcP chains. IL-36 cytokines can direct both innate and adaptive immune responses by acting on parenchymal, stromal, and specific immune cell subsets. In humans, inactivating mutations in the gene encoding the IL-36R antagonist, which lead to unregulated IL-36R signaling, lead to an autoinflammatory condition termed deficiency of the IL-36R antagonist, which primarily manifests as a severe form of pustular psoriasis. While such discoveries have prompted deeper mechanistic studies highlighting the important role of IL-36 cytokines in psoriatic skin inflammation, it is now evident that IL-36 cytokines can also play important roles in inflammatory disorders in other organs, such as the gastrointestinal tract and the lungs. Given these emerging roles, strategies to specifically target the expression and activity of the IL-36 family have the potential to uncover novel therapeutic approaches aimed at treating inflammatory diseases in humans. © 2016 New York Academy of Sciences.
Lavielle-Sotomayor, Pilar; Rozen-Fuller, Etta; Bustamante-Rojano, Juan; Martínez-Murillo, Carlos
Quality of life must be a part of the goals of care given to blood cancer patients and it must be used to assess the effectiveness of their treatment. The objective was to evaluate the quality of life of patients with leukemia and its relationship with psychological, familial and disease-related aspects. An analytic cross-sectional study was carried out in patients with acute leukemia at different stages of treatment. We used SF-36, Optimism and Family Cohesion scales. Quality of life was affected physically and mentally in the treatment phases aimed to mitigate the active, and the advanced stage of this disease (50.6 ± 25.6, 62 ± 14.3; 46 ± 23.2, 53.8 ± 23.4, respectively), regardless of gender, age, level of optimism and family cohesion. Patients could carry out basic functions of self-care (bathing, feeding, etcetera), but not activities of daily living (shopping, household chores, etcetera), which require a greater effort. Although the patients perceived having been affected in the emotional health area-by the presence of anxiety and depression-they did not consider that these alterations limited their ability to carry out work and everyday activities. Quality of life was most affected at mental dimension and physical dimension, mainly in patients at induction and palliative treatment. The results showed that the objectives of care aimed to reduce symptoms and maintain patient comfort are not achieved.
Sedighi, Iraj; Nouri, Shahla; Sadrosadat, Taravat; Nemati, Reza; Shahbazi, Mojgan
The purpose of this study is to propose an innovative method of knowledge transfer that aims to improve health literacy about pediatric infectious diseases prevention in families. Children have an appreciable role in this scheme. This study is a before and after trial that has been conducted in Hamedan in 2009. After changing seven infectious disease topics into childish poems, we selected five kindergartens randomly and taught these poetries to the children. Teaching process held after a pretest containing 24 questions that examined 103 of parents about mentioned topics. The same post-test was given after 4 months of teaching process. The mean of correct answers to the pretest was 59.22% comparable with 81.00% for post-test (P<0.00). Gender and knowledge degree could not change the results significantly. Assuming one's correct answers to the questions as his/her Knowledge Mark, the mean of this variable increased to 5.32 by this method. This cost-effective and joyful method had successful results in promoting health knowledge. Children are able to play an active role in family's health situation. Learning within family atmosphere without any obligations makes our scheme a solution for paving the knowledge transferring way.
Full Text Available AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH. To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. CONCLUSION: The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.
Saleha, Shamim; Ajmal, Muhammad; Jamil, Muhammad; Nasir, Muhammad; Hameed, Abdul
To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH). To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR) markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A) of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.
Full Text Available Background. Huntington disease occurrs rarely, it can be encountered not only by neurologists and psychiatrists but also by other medical practitioners. Its characteristic features are involuntary movements, cognitive disorders and gradual development of dementia. Diagnosis is given on the basis of these clinical features, positive familial anamnesis, with the laboratory exclusion of other neuropsychiatric diseases and with the help of neuroimaging methods (in particular NMR. The disease can be only confirmed by means of genetic analysis.Patients and methods. In this article, four cases of patients with Huntington disease and diverse psychiatric disorders that were hospitalised at the psychiatric department of the Maribor General Hospital between October 2002 and March 2003 are described. All the patients fulfilled the valid criteria for the diagnosis of Huntington disease. However, they differed according to their accompanying psychiatric psychopathology, age and social problems.Conclusions. The purpose of this article is to draw attention to different psychiatric symptoms and clinical manifestations of Huntington disease that are often misleading in the diagnostic process. In addition, exigency of early diagnostics, guidelines for referrals to genetic testing and psychiatric monitoring of these patients are emphasised.
Theed, Rachael; Eccles, Fiona; Simpson, Jane
The aim of this qualitative meta-synthesis was to search and then synthesise family caregivers' experiences of providing care to individuals with Parkinson's disease (PD). A systematic search resulted in the identification of 11 qualitative studies. Noblit and Hare's seven-stage approach was used to provide a higher-order interpretation of how family caregivers' experienced the effects of taking on a caregiving role. The process of reciprocal translation resulted in four overarching themes: (1) the need to carry on as usual - 'the caregiver must continue with his life'; (2) the importance of support in facilitating coping - 'I'm still going back to the support group'; (3) the difficult balancing act between caregiving and caregiver needs - 'I cannot get sick because I'm a caregiver'; (4) conflicts in seeking information and knowledge - 'maybe better not to know'. The themes reflected different aspects of family caregivers' lives that were affected as a result of caring for a relative diagnosed with PD and these raise challenges for more simplistic theories of family caring and appropriate support structures. The findings also highlight several recommendations for clinical practice.
Fabrícia Torres Gonçalves
Full Text Available CONTEXT: Carney complex (CNC, a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD, is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.
Shastry, B S; Hejtmancik, J F; Trese, M T
X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. One mutation (H42R) was found to be segregating with the disease in three generations (X-linked family), and the others are sporadic. These sequence alterations changed the encoded amino acids in the Norrie disease protein and were not found in 17 unaffected family members or in 36 randomly selected normal individuals. This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases.
Farbakhsh, Kian; Lytle, Leslie; Hearst, Mary O.; Dengel, Donald R.; Pasch, Keryn E.; Kubik, Martha Y.
Information regarding associations between types of away-from-home family meal sources and obesity and other chronic diseases could help guide dietitians. The present study describes the purchase frequency of away-from-home food sources for family dinner (fast food, other restaurant purchases, home delivery, and take-out foods) and associations with weight status and percent body fat among adolescents (n=723) and parents (n=723) and related biomarkers of chronic disease among adolescents (n=367). A cross-sectional study design was used with baseline parent surveys and anthropometry/fasting blood samples from two community-based obesity studies (2006–2008) in Minnesota. Logistic regression and general linear modeling assessed associations between frequency of family dinner sources (weekly versus none in past week) and outcomes (parent and adolescent overweight/obesity and percent body fat; adolescent metabolic risk cluster z-score (MRC), cholesterol, HDL-C, LDL, triglycerides, fasting glucose, insulin and systolic blood pressure. Models accounted for clustering and adjusted for study allocation, baseline meal frequency and demographic characteristics. The odds of overweight/obesity were significantly greater when families reported at least one away-from-home dinner purchase in the past week (OR=1.2–2.6). Mean percent body fat, MRC z-scores and insulin levels were significantly greater with weekly purchases of family dinner from fast food restaurants (p’s < .05). Mean percent body fat, MRC z-scores and HDL levels were significantly higher for families who purchased weekly family dinner from take-out sources (p’s < .05). Although frequent family dinners may be beneficial for adolescents, the source of dinners is likely as important in maintaining a healthy weight. Interventions should focus on encouragement of healthful family meals. PMID:22117665
Kretzschmar Mirjam EE
Full Text Available Abstract Background Timely reporting of infectious disease cases to public health authorities is essential to effective public health response. To evaluate the timeliness of reporting to the Dutch Municipal Health Services (MHS, we used as quantitative measures the intervals between onset of symptoms and MHS notification, and between laboratory diagnosis and notification with regard to six notifiable diseases. Methods We retrieved reporting data from June 2003 to December 2008 from the Dutch national notification system for shigellosis, EHEC/STEC infection, typhoid fever, measles, meningococcal disease, and hepatitis A virus (HAV infection. For each disease, median intervals between date of onset and MHS notification were calculated and compared with the median incubation period. The median interval between date of laboratory diagnosis and MHS notification was similarly analysed. For the year 2008, we also investigated whether timeliness is improved by MHS agreements with physicians and laboratories that allow direct laboratory reporting. Finally, we investigated whether reports made by post, fax, or e-mail were more timely. Results The percentage of infectious diseases reported within one incubation period varied widely, between 0.4% for shigellosis and 90.3% for HAV infection. Not reported within two incubation periods were 97.1% of shigellosis cases, 76.2% of cases of EHEC/STEC infection, 13.3% of meningococcosis cases, 15.7% of measles cases, and 29.7% of typhoid fever cases. A substantial percentage of infectious disease cases was reported more than three days after laboratory diagnosis, varying between 12% for meningococcosis and 42% for shigellosis. MHS which had agreements with physicians and laboratories showed a significantly shorter notification time compared to MHS without such agreements. Conclusions Over the study period, many cases of the six notifiable diseases were not reported within two incubation periods, and many were
Franrenet, Sandra; Duchange, Nathalie; Galactéros, Fréderic; Quantin, Catherine; Cohen, Olivier; Nzouakou, Ruben; Sudraud, Sophie; Hervé, Christian; Moutel, Grégoire
The Inforare project aims to set up a system for the sharing of clinical and familial data, in order to study how genes are related to the severity of sickle cell disease. While the computerisation of clinical records represents a valuable research goal, an ethical framework is necessary to guarantee patients' protection and their rights in this developing field. Issues relating to patient information during the Inforare study were analysed by the steering committee. Several major concerns were discussed by the committee and formalized in the patients' information letter: educating patients to aid the recruitment of family members, rules of confidentiality and the disclosure of aggregate, individual and unexpected research results. This paper presents the main issues addressed.
Koopal, C.; Retterstol, K.; Sjouke, B.; Hovingh, G. K.; Ros, E.; de Graaf, J.; Dullaart, R. P. F.; Bertolini, S.; Visseren, F. L. J.
Background: Familial dysbetalipoproteinemia (FD), also known as type III hyperlipoproteinemia, is a genetic dyslipidemia characterized by elevated very low density lipoprotein (VLDL) and chylomicron remnant particles that confers increased risk of cardiovascular disease (CVD). The objective of this
Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M
We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.
Yang, Huiqin; Li, Shiqiang; Xiao, Xueshan; Guo, Xiangming; Zhang, Qingjiong
To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation. NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR. NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.
Ijzer, Suzanne; Born, L.I. van den; Zonneveld, M.N.; Lopez, I.; Ayyagari, R.; Teye-Botchway, L.; Mota-Vieira, L.; Cremers, F.P.M.; Koenekoop, R.K.
PURPOSE: To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes. METHODS: We evaluated eight sibs of one family, three family
Oyegbile, Yemisi Okikiade; Brysiewicz, Petra
To describe the experiences of family caregivers providing care for patients living with End-Stage Renal Disease in Nigeria BACKGROUND: Family caregiving is where an unpaid volunteer, usually a close family member, attends to the needs of a loved one with a chronic, disabling illness within the home. Much research has been conducted in the area of family caregiving in high-income countries. However, the same cannot be said for many of the low-resource, multicultural African countries. Qualitative descriptive study. This qualitative descriptive study used manifest content analysis to analyse data from semi-structured, individual interviews, with 15 purposively selected family caregivers. Two tertiary institutions providing renal care in South-Western Nigeria: the research setting for this study. Five categories were identified, and these included disconnectedness with self and others, never-ending burden, 'a fool being tossed around', obligation to care and promoting a closer relationship. Experiences associated with the caregiving of patients diagnosed with End-Stage Renal Disease evoked a number of emotions from the family caregivers, and the study revealed that caregiving imposed some burdens that are specific to low-resource countries on participants. Nurses need to engage family caregivers on disease-specific teachings that might promote understanding of the disease process and role expectation. Family caregivers may benefit from social support services. © 2016 John Wiley & Sons Ltd.
Full Text Available Celiac disease is the most common chronic gastroenterological autoimmune disease characterized by gluten intolerance. The diagnosis of celiac disease and enteropathy-associated T cell lymphoma is often made when it is too late.Case report describes a 35-year-old female patient managed for one year under the diagnosis of inflammatory bowel disease and admitted to our hospital for exacerbation of the underlying disease. However, inflammatory bowel disease was ruled out by diagnostic work-up, while the clinical picture and the findings obtained raised suspicion of lymphoma. The patient’s condition was additionally complicated by fulminant course of the disease and ileus.Conclusion:Early diagnosis and appropriate treatment of the disease, and follow up of family members are crucial to prevent intestinal lymphoma development.
Jeronymo, J.R.B.; Borba, L.A.N.
The authors present a brief review of the literature and report a case of osteopetrosis tardo which was diagnosed by chance at the Hospital de Clinicas - Universidade Federal do Parana. This patient had no clinical manifestation of the disease. The radiological findings were characteristic of osteopetrosis and the absence of clinical signs confirm the tardo form of this rare disease, with the patient been well at 74 years of age. (author)
Cengiz, Seda; Cengiz, M ?nan?; Sara?, Y ?inasi
Introduction Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue. Case presentation This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined...
Bouybayoune, I.; Mantovani, S.; Del Gallo, F.; Bertani, I.; Restelli, E.; Comerio, L.; Tapella, L.; Baracchi, F.; Fernández-Borges, N.; Mangieri, M.; Bisighini, C.; Beznoussenko, G..V.; Paladini, A.; Balducci, C.; Micotti, E.
Author Summary Genetic prion diseases are degenerative brain disorders caused by mutations in the gene encoding the prion protein (PrP). Different PrP mutations cause different diseases, including Creutzfeldt-Jakob disease (CJD) and fatal familial insomnia (FFI). The reason for this variability is not known, but assembly of the mutant PrPs into distinct aggregates that spread in the brain by promoting PrP aggregation may contribute to the disease phenotype. We previously generated transgenic ...
Shital A Hungund
Full Text Available Cherubism is an autosomal-dominant inherited syndrome; it starts in early childhood and involutes by puberty. It is characterized by excessive bone degradation of the jaws and development of fibrous tissue masses. Non-familial cherubism is a rare entity, which needs to be documented. This paper describes the findings of non-familial cherubism. An 11-year-old male patient reported with bilateral swellings of the jaws and unerupted teeth. Extensive gingival overgrowth, cherubic facial appearance, multilocular osteolytic lesions in radiographs and family history lead to the diagnosis of non-familial cherubism. Treatment included full mouth excision of the gingival tissue by gingivectomy with both manual instrumentation and electrosurgery. Patient is being monitored and recalled for frequent follow-ups. Dental practitioners need to be alert with patients presenting with gingival overgrowth.
Tosto, Giuseppe; Bird, Thomas D; Bennett, David A; Boeve, Bradley F; Brickman, Adam M; Cruchaga, Carlos; Faber, Kelley; Foroud, Tatiana M; Farlow, Martin; Goate, Alison M; Graff-Radford, Neill R; Lantigua, Rafael; Manly, Jennifer; Ottman, Ruth; Rosenberg, Roger; Schaid, Daniel J; Schupf, Nicole; Stern, Yaakov; Sweet, Robert A; Mayeux, Richard
The contribution of cardiovascular disease (CV) and cerebrovascular disease to the risk for late-onset Alzheimer disease (LOAD) has been long debated. Investigations have shown that antecedent CV risk factors increase the risk for LOAD, although other investigations have failed to validate this association. To study the contribution of CV risk factors (type 2 diabetes, hypertension, and heart disease) and the history of stroke to LOAD in a data set of large families multiply affected by LOAD. The National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease family study (hereinafter referred to as NIA-LOAD study) is a longitudinal study of families with multiple members affected with LOAD. A multiethnic community-based longitudinal study (Washington Heights-Inwood Columbia Aging Project [WHICAP]) was used to replicate findings. The 6553 participants in the NIA-LOAD study were recruited from 23 US Alzheimer disease centers with ongoing data collection since 2003; the 5972 WHICAP participants were recruited at Columbia University with ongoing data collection since 1992. Data analysis was performed from 2003 to 2015. Generalized mixed logistic regression models tested the association of CV risk factors (primary association) with LOAD. History of stroke was used for the secondary association. A secondary model adjusted for the presence of an apolipoprotein E (APOE) ε4 allele. A genetic risk score, based on common variants associated with LOAD, was used to account for LOAD genetic risk beyond the APOE ε4 effect. Mediation analyses evaluated stroke as a mediating factor between the primary association and LOAD. A total of 6553 NIA-LOAD participants were included in the analyses (4044 women [61.7%]; 2509 men [38.3%]; mean [SD] age, 77.0  years), with 5972 individuals from the WHICAP study included in the replication sample (4072 women [68.2%]; 1900 men [31.8%]; mean [SD] age, 76.5 [7.0] years). Hypertension was associated
Santos, Débora de Souza; Tenório, Elainey de Albuquerque; Brêda, Mércia Zeviane; Mishima, Silvana Martins
to analyze the meanings Primary Health Care users attribute to their health-disease process and the services used. this qualitative research uses the focus group technique to interview two groups of users the service monitors. The first is a group of elderly people and the second of pregnant women. To analyze the meanings, the discourse analysis technique and the reference framework of health promotion are used. the group of elderly, being mostly female arterial hypertension and diabetes mellitus patients, visualizes the health-disease process as the evolution of human existence controlled by divine power, signifying the health service as a blessing in the control of the disease. The Group of young pregnant women signified health as the ability for self-care and disease as the disability for that purposes, considering the Primary Health Care service as responsible for the recovery of individual and family health. the users demonstrated dissatisfaction with bureaucratic and vertical relations present at the health services. In each group, it was observed that the meanings for health and disease and meanings of the health service the users elaborated can be related.
Full Text Available Transforming growth factor beta (TGF-β plays a crucial role and takes part in many processes in the human body both in physiology and pathology. This cytokine is involved in angiogenesis, regulates apoptosis and stimulates divisions of cells, such as hepatocytes, lymphocytes or hematopoietic cells. SMAD proteins family is a unique group of particles responsible for transducting the signal induced by TGF-β into the nucleus. This molecules, after receiving a signal from activated TGF-β, act on transcription factors in the nucleus, leading directly to the expression of the corresponding genes. According to current knowledge, disturbances in the functioning of SMAD proteins are present in a number of diseases. The reduced expression was observed, for example in cardiovascular diseases such as primary pulmonary hypertension or myocardial infarction, autoimmune diseases for instance systemic lupus erythematosus and multiple sclerosis, Alzheimer’s disease or osteoporosis. The latest clinical data showed the presence of mutations in SMAD proteins in cancerogenesis. Mutation of SMAD-4 protein can be detected in half of the patients with pancreatic cancer, 20% of patients with colorectal cancer and 10% of patients with lung cancer. However, mutation in SMAD-2 protein was observed in 7% of both patients with colorectal cancer and lung cancer. On the basis of numerous works, SMAD protein expression would be valuable prognostic factor in some of neoplastic diseases.
Shim, Jong Joon; Kim, Ho Kyun; Shim, Jae Chan; Lee, Kyoung Eun; Lee, Ghi Jai; Suh, Jung Ho; Hong, Seong Woo; Lee, Hye Kyung [Seoul Paik Hospital/Inje Univ. College of Medicine, Seoul (Korea, Republic of)
Rosai Dorfman disease involves an abnormal proliferation of histiocytes. This abnormal growth tends to occur within the lymph nodes, with occasional extranodal presentation. Rosai Dorfman disease is a rare disease, and the extranodal cases are even more uncommon. We report a rare case of extranodal Rosai Dorfman disease in multiple sites in a 56 year old male patient. Abdominopelvic CT revealed soft tissue attenuation masses, encasing both the renal pelvis and both ureters, as well as the thoracic vertebra. Following the neck sonography, both submandibular glands had an enlarged honey combed appearance. Although Rosai Dorfman disease is rare, it should be considered as a potential differential diagnosis when multiple sites involving soft tissue attenuation masses are observed with sonogram and CT.
Tawana, Kiran; Wang, Jun; Renneville, Aline
collected from 10 CEBPA-mutated families, representing 24 members with acute myeloid leukemia (AML). Whole-exome (WES) and deep sequencing were performed to genetically profile tumors and define patterns of clonal evolution. Germline CEBPA mutations clustered within the N-terminal and were highly penetrant......, with AML presenting at a median age of 24.5 years (range, 1.75-46 years). In all diagnostic tumors tested (n = 18), double CEBPA mutations (CEBPAdm) were detected, with acquired (somatic) mutations preferentially targeting the C-terminal. Somatic CEBPA mutations were unstable throughout the disease course...
Zhu, D P; Antonarakis, S E; Schmeckpeper, B J; Diergaarde, P J; Greb, A E; Maumenee, I H
We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.
Liu, Danhong; Wang, Xia; Pan, Feng; Xu, Yongyong; Yang, Peng; Rao, Keqin
Exploring solutions for infectious disease information sharing among hospital and public health information systems is imperative to the improvement of disease surveillance and emergent response. This paper aimed at developing a method to directly transmit real-time data of notifiable infectious diseases from hospital information systems to public health information systems on the Internet by using a standard eXtensible Markup Language (XML) format. The mechanism and work flow by which notifiable infectious disease data are created, reported and used at health agencies in China was evaluated. The capacity of all participating providers to use electronic data interchange to submit transactions of data required for the notifiable infectious disease reporting was assessed. The minimum data set at national level that is required for reporting for national notifiable infectious disease surveillance was determined. The standards and techniques available worldwide for electronic health data interchange, such as XML, HL7 messaging, CDA and ATSM CCR, etc. were reviewed and compared, and an XML implementation format needed for this purpose was defined for hospitals that are able to access the Internet to provide a complete infectious disease reporting. There are 18,703 county or city hospitals in China. All of them have access to basic information infrastructures including computers, e-mail and the Internet. Nearly 10,000 hospitals possess hospital information systems used for electronically recording, retrieving and manipulating patients' information. These systems collect 23 data items required in the minimum data set for national notifiable infectious disease reporting. In order to transmit these data items to the disease surveillance system and local health information systems instantly and without duplication of data input, an XML schema and a set of standard data elements were developed to define the content, structure and semantics of the data set. These standards
Joseph, Leo; Joseph, Selvanayagam; Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David; Presneau, Nadege; O'Donnell, Paul; Diss, Tim; Flanagan, Adrienne Margaret
To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)
Joseph, Leo; Joseph, Selvanayagam [Vinodhagan Memorial Hospital and Dr. Joseph' s Ortho Clinic, Department of Orthopaedic Surgery, Thanjavur (India); Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); Presneau, Nadege [University College London (UCL), Cancer Institute, London (United Kingdom); O' Donnell, Paul [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); University College London (UCL), The Institute of Orthopaedics and Musculoskeletal Science, London (United Kingdom); Diss, Tim [University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); Flanagan, Adrienne Margaret [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Cancer Institute, London (United Kingdom); University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); Institute of Orthopaedics and Musculoskeletal Science, Stanmore, Middlesex (United Kingdom)
To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)
Full Text Available Caroli's disease (CD is a rare congenital abnormality characterized by non-obstructive dilatation of intra hepatic bile ducts, which may be complicated by stone formation, recurrent cholangitis, biliary abscess and higher risk for biliary malignancy. We report a 37-year-old man with recurrent bouts of upper abdominal pain, high grade pyrexia, mild icterus with normal liver function tests who was diagnosed as a case of Caroli's disease. The laboratory studies confirmed Caroli' s disease with a SOL in liver suggestive of liver abscess and the patient received broad spectrum antibiotics with anaerobic and amoebicidal coverage. With 14 days course of antibiotics, he gradually recovered from his symptoms.
Full Text Available Abstract Introduction Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far. Case presentation We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri. Conclusion This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.
Brosig, C L; Mussatto, K A; Kuhn, E M; Tweddell, J S
The purpose of the current study was to assess the psychosocial outcomes of preschool-aged survivors (ages 3-6 years) of hypoplastic left heart syndrome (HLHS; n=13) and transposition of the great arteries (TGA; n=13). Parents completed the following measures: Pediatric Quality of Life Inventory, Impact on the Family Scale, Parenting Stress Index, Parent Behavior Checklist, and Child Behavior Checklist. Quality of life scores did not differ from those of healthy controls. Parents of children with HLHS reported more negative impact of the child's illness on the family and more parenting stress than parents of children with TGA. Parents of both groups of children were more permissive in their parenting style than parents of healthy controls. Children with HLHS had higher rates of attention and externalizing behavior problems than children with TGA. The results highlight the need for practitioners working with these children and families to ask about parental stress, family functioning, and behavioral expectations for the child in the context of routine medical/cardiac follow-up.
Full Text Available The potential to use data on family history of premature disease to assess disease risk is increasingly recognised, particularly in scoring risk for coronary heart disease (CHD. However the quality of family health information in primary care records is unclear.To assess the availability and quality of family history of CHD documented in electronic primary care records.Cross-sectional study.537 UK family practices contributing to The Health Improvement Network database.Data were obtained from patients aged 20 years or more, registered with their current practice between 1(st January 1998 and 31(st December 2008, for at least one year. The availability and quality of recorded CHD family history was assessed using multilevel logistic and ordinal logistic regression respectively.In a cross-section of 1,504,535 patients, 19% had a positive or negative family history of CHD recorded. Multilevel logistic regression showed patients aged 50-59 had higher odds of having their family history recorded compared to those aged 20-29 (OR:1.23 (1.21 to 1.25, however most deprived patients had lower odds compared to those least deprived (OR: 0.86 (0.85 to 0.88. Of the 140,058 patients with a positive family history recorded (9% of total cohort, age of onset was available in 45%; with data specifying both age of onset and relative affected available in only 11% of records. Multilevel ordinal logistic regression confirmed no statistical association between the quality of family history recording and age, gender, deprivation and year of registration.Family history of CHD is documented in a small proportion of primary care records; and where positive family history is documented the details are insufficient to assess familial risk or populate cardiovascular risk assessment tools. Data capture needs to be improved particularly for more disadvantaged patients who may be most likely to benefit from CHD risk assessment.
Dhiman, Paula; Kai, Joe; Horsfall, Laura; Walters, Kate; Qureshi, Nadeem
The potential to use data on family history of premature disease to assess disease risk is increasingly recognised, particularly in scoring risk for coronary heart disease (CHD). However the quality of family health information in primary care records is unclear. To assess the availability and quality of family history of CHD documented in electronic primary care records. Cross-sectional study. 537 UK family practices contributing to The Health Improvement Network database. Data were obtained from patients aged 20 years or more, registered with their current practice between 1(st) January 1998 and 31(st) December 2008, for at least one year. The availability and quality of recorded CHD family history was assessed using multilevel logistic and ordinal logistic regression respectively. In a cross-section of 1,504,535 patients, 19% had a positive or negative family history of CHD recorded. Multilevel logistic regression showed patients aged 50-59 had higher odds of having their family history recorded compared to those aged 20-29 (OR:1.23 (1.21 to 1.25)), however most deprived patients had lower odds compared to those least deprived (OR: 0.86 (0.85 to 0.88)). Of the 140,058 patients with a positive family history recorded (9% of total cohort), age of onset was available in 45%; with data specifying both age of onset and relative affected available in only 11% of records. Multilevel ordinal logistic regression confirmed no statistical association between the quality of family history recording and age, gender, deprivation and year of registration. Family history of CHD is documented in a small proportion of primary care records; and where positive family history is documented the details are insufficient to assess familial risk or populate cardiovascular risk assessment tools. Data capture needs to be improved particularly for more disadvantaged patients who may be most likely to benefit from CHD risk assessment.
Verfaillie, Sander C J; Pichet Binette, Alexa; Vachon-Presseau, Etienne; Tabrizi, Shirin; Savard, Mélissa; Bellec, Pierre; Ossenkoppele, Rik; Scheltens, Philip; van der Flier, Wiesje M; Breitner, John C S; Villeneuve, Sylvia
Both subjective cognitive decline (SCD) and a family history of Alzheimer's disease (AD) portend risk of brain abnormalities and progression to dementia. Posterior default mode network (pDMN) connectivity is altered early in the course of AD. It is unclear whether SCD predicts similar outcomes in cognitively normal individuals with a family history of AD. We studied 124 asymptomatic individuals with a family history of AD (age 64 ± 5 years). Participants were categorized as having SCD if they reported that their memory was becoming worse (SCD + ). We used extensive neuropsychological assessment to investigate five different cognitive domain performances at baseline (n = 124) and 1 year later (n = 59). We assessed interconnectivity among three a priori defined ROIs: pDMN, anterior ventral DMN, medial temporal memory system (MTMS), and the connectivity of each with the rest of brain. Sixty-eight (55%) participants reported SCD. Baseline cognitive performance was comparable between groups (all false discovery rate-adjusted p values > .05). At follow-up, immediate and delayed memory improved across groups, but the improvement in immediate memory was reduced in SCD + compared with SCD - (all false discovery rate-adjusted p values < .05). When compared with SCD - , SCD + subjects showed increased pDMN-MTMS connectivity (false discovery rate-adjusted p < .05). Higher connectivity between the MTMS and the rest of the brain was associated with better baseline immediate memory, attention, and global cognition, whereas higher MTMS and pDMN-MTMS connectivity were associated with lower immediate memory over time (all false discovery rate-adjusted p values < .05). SCD in cognitively normal individuals is associated with diminished immediate memory practice effects and a brain connectivity pattern that mirrors early AD-related connectivity failure. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
Parra, Mario A; Sala, Sergio Della; Abrahams, Sharon; Logie, Robert H; Méndez, Luis Guillermo; Lopera, Francisco
Short-term memory binding of visual features which are processed across different dimensions (shape-colour) is impaired in sporadic Alzheimer's disease, familial Alzheimer's disease, and in asymptomatic carriers of familial Alzheimer's disease. This study investigated whether Alzheimer's disease also impacts on within-dimension binding processes. The study specifically explored whether visual short-term memory binding of features of the same type (colour-colour) is sensitive to Alzheimer's disease. We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation. The binding task assessed change detection within arrays of unicoloured objects (Colour Only) or bicoloured objects the colours of which had to be remembered separately (Unbound Colours) or together (Bound Colours). Performance on the Bound Colours condition (1) explained the largest proportion of variance between patients (sporadic and familial Alzheimer's disease), (2) combined more sensitivity and specificity for the disease than other more traditional neuropsychological tasks, (3) identified asymptomatic carriers of the mutation even when traditional neuropsychological measures and other measures of short-term memory did not and, (4) contrary to shape-colour binding, correlated with measures of hippocampal functions. Colour-colour binding and shape-colour binding both appear to be sensitive to AD even though they seem to rely on different brain mechanisms. Copyright © 2011 Elsevier Ltd. All rights reserved.
The Seward Park Family Literacy Program was an Elementary and Secondary Education Act Title VII-funded project in its second year of operation at Seward Park High School in Manhattan (New York). In 1992-93 the program served Cantonese-, Mandarin-, and Spanish-speaking adults of limited English proficiency with instruction in English as a second…
San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R
Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.
Ahmadieh, Azadeh; Farnad, Fariborz; Sedghizadeh, Parish P
Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas craniofacial bone involvement is extremely rare. Reports confirming the diagnoses of Gaucher disease involving craniofacial bones by histopathologic evidence are even rarer. A 46-year-old Caucasian Ashkenazi Jewish woman with Gaucher disease presented with jawbone pain and lytic radiographic lesions of her mandible. Surgical biopsy of a mandibular lesion revealed Gaucher cells infiltrating the mandible, which correlated with radiographic and clinical findings, supporting a diagnosis of Gaucher disease with jawbone involvement. Lysosomal storage diseases can have head and neck manifestations, and bone involvement in Gaucher disease is common. Therefore, careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders to rule out head and neck involvement of disease. Biopsy may be warranted in some cases for more definitive diagnosis of painful jawbone lesions and to rule out other odontogenic and non-odontogenic conditions in the differential diagnosis.
M. A. D. Danucalov
Full Text Available Familial caregivers of patients with Alzheimer's disease exhibit reduced quality of life and increased stress levels. The aim of this study was to investigate the effects of an 8-week yoga and compassion meditation program on the perceived stress, anxiety, depression, and salivary cortisol levels in familial caregivers. A total of 46 volunteers were randomly assigned to participate in a stress-reduction program for a 2-month period (yoga and compassion meditation program—YCMP group (n=25 or an untreated group for the same period of time (control group (n=21. The levels of stress, anxiety, depression, and morning salivary cortisol of the participants were measured before and after intervention. The groups were initially homogeneous; however, after intervention, the groups diverged significantly. The YCMP group exhibited a reduction of the stress (P<0.05, anxiety (P<0.000001, and depression (P<0.00001 levels, as well as a reduction in the concentration of salivary cortisol (P<0.05. Our study suggests that an 8-week yoga and compassion meditation program may offer an effective intervention for reducing perceived stress, anxiety, depression, and salivary cortisol in familial caregivers.
North, Kari E; Howard, Barbara V; Welty, Thomas K; Best, Lyle G; Lee, Elisa T; Yeh, J L; Fabsitz, Richard R; Roman, Mary J; MacCluer, Jean W
The aims of the Strong Heart Family Study are to clarify the genetic determinants of cardiovascular disease (CVD) risk in American Indians and to map and identify genes for CVD susceptibility. The authors describe the design of the Strong Heart Family Study (conducted between 1998 and 1999) and evaluate the heritabilities of CVD risk factors in American Indians from this study. In the first phase of the study, approximately 950 individuals, aged 18 years or more, in 32 extended families, were examined. The examination consisted of a personal interview, physical examination, laboratory tests, and an ultrasound examination of the carotid arteries. The phenotypes measured during the physical examination included anthropometry, lipoproteins, blood pressure, glycemic status, and clotting factors. Heritabilities for CVD risk factor phenotypes were estimated using a variance component approach and the program SOLAR. After accounting for the effects of covariates, the authors detected significant heritabilities for many CVD risk factor phenotypes (e.g., high density lipoprotein cholesterol (heritability = 0.50) and diastolic blood pressure (heritability = 0.34)). These results suggest that heredity explains a substantial proportion of the variability of CVD risk factors and that these heritabilities are large enough to warrant a search for major risk factor genes.
Full Text Available Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD.We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA, retinitis pigmentosa (RP, congenital stationary night blindness (CSNB, or cone dystrophy (CD. We employed genome-wide single nucleotide polymorphism (SNP array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.
Full Text Available Monilethrix is a rare genetic disorder of hair characterized by beaded appearance of the hair shaft leading to hair fragility and patchy dystrophic alopecia. In this disorder, the hair shaft has alternate widenings (nodes and constrictions (internodes that lead to fracture of hair shaft and varying degree of alopecia. We report an eight year old Kashmiri boy who presented with diffuse hair loss since infancy. As monilethrix is a rare disease entity which prompted us to report this case.
van Wingerden, J. J.
A case of familial hypercholesterolaemia is presented. This is to the best of our knowledge the first report of such a case in a South African black. The modes of presentation and inheritance are discussed and the relevant literature is reviewed
Rauch, Marian D.; Crowell, Doris C.
Reported were the results of a project which established a cluster of family day care homes in Hawaii in which caregivers were selected, trained, and provided with supportive services and salaries. The primary objective of the program was to provide a replicable, high quality program for preschool children that would maximize social, emotional,…
Shek, Daniel T. L.; Lai, Kelly Y. C.
Reliability and validity of Chinese Self-Report Family Inventory (C-SFI) were examined in three studies. Study 1 showed C-SFI was temporally stable and internally consistent. Study 2 indicated C-SFI could discriminate between clinical and nonclinical groups. Study 3 gave support for internal consistency, concurrent validity and construct validity.…
The data in this report is from the Annual Social and Economic Supplement (ASEC) to the 2003 Current Population Survey (CPS). The population represented (the population universe) in the ASEC is the civilian non institutionalized population living in the United States. Members of the Armed Forces living off post or with their families on post are…
Christelle Doyon, MD
Conclusions and importance: To our knowledge, this is the first case ever reported of family transmission of orbital cellulitis. This highlights the importance of early diagnosis and treatment of S pyogenes, and the role of throat cultures as means of diagnosis even in the absence of symptoms or signs of pharyngitis.
Nicolas, G; Charbonnier, C; Wallon, D; Quenez, O; Bellenguez, C; Grenier-Boley, B; Rousseau, S; Richard, A-C; Rovelet-Lecrux, A; Le Guennec, K; Bacq, D; Garnier, J-G; Olaso, R; Boland, A; Meyer, V; Deleuze, J-F; Amouyel, P; Munter, H M; Bourque, G; Lathrop, M; Frebourg, T; Redon, R; Letenneur, L; Dartigues, J-F; Génin, E; Lambert, J-C; Hannequin, D; Campion, D
The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease. We assessed the impact of SORL1 rare variants in early-onset Alzheimer's disease (EOAD) in a case-control setting. We conducted a whole exome analysis among 484 French EOAD patients and 498 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of disruptive and predicted damaging missense SORL1 variants in cases (odds radio (OR)=5.03, 95% confidence interval (CI)=(2.02-14.99), P=7.49.10(-5)). This enrichment was even stronger when restricting the analysis to the 205 cases with a positive family history (OR=8.86, 95% CI=(3.35-27.31), P=3.82.10(-7)). We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history.
Navarta-Sánchez, María Victoria; Caparrós, Neus; Ursúa Sesma, María Eugenia; Díaz de Cerio Ayesa, Sara; Riverol, Mario; Portillo, Mari Carmen
To explore the main psychosocial aspects which have influence on the coping with the disease in patients with Parkinson's disease (PD) and their family carers. An exploratory qualitative study which constitutes the second phase of a mixed-methods project. Multicenter study carried out in Navarre in 2014 in collaboration with Primary Care of Navarre Service of Health-Osasunbidea, Clínica Universidad de Navarra and Navarre Association of Parkinson's patients. A total of 21 participants: 9 people with PD, 7 family carers and 5 healthcare professionals. Participants were selected through purposive sampling. Focus groups were conducted until a suitable saturation data was achieved. Transcriptions were analysed by 2 researchers through a content analysis. Three aspects that affected how patients and family carers coped with PD were identified: features of the clinical practice; family environment, and disease's acceptance. Taking account of these findings, some strategies which could foster these aspects from primary healthcare are suggested in order to improve the adjustment to the disease in patients and family carers. The healthcare in people with PD should have an integral approach that tackle the symptoms control in patients and also deal with psychosocial aspects that influence on the coping with the disease, in patients and family carers. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.
Full Text Available To assess the progression of Stargardt (STGD disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers. In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters. In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset. After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy. WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635_(5714+?dup; (?_6148_(6479_+? del] and M2: c.[2041C>T], p.[R681∗]. In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations. After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease. Genetic variations in the two branches made no difference to similar end-stage disease.
Rostgaard, Nina; Waldemar, Gunhild; Nielsen, Jørgen Erik
As dementia is a fast-growing health care problem, it is becoming an increasingly urgent need to provide an early diagnosis in order to offer patients the best medical treatment and care. Validated biomarkers which reflect the pathology and disease progression are essential for diagnosis and are ......As dementia is a fast-growing health care problem, it is becoming an increasingly urgent need to provide an early diagnosis in order to offer patients the best medical treatment and care. Validated biomarkers which reflect the pathology and disease progression are essential for diagnosis...... and are important when developing new therapies. Today, the core protein biomarkers amyloid-β42, total tau and phosphorylated tau in the cerebrospinal fluid (CSF) are used to diagnose Alzheimer's disease (AD), because these biomarkers have shown to reflect the underlying amyloid and tau pathology. However......, the biomarkers have proved insufficient predictors of dementias with a different pathology, e.g. frontotemporal dementia (FTD); furthermore, the biomarkers are not useful for early AD diagnosis. Familial dementias with a known disease-causing mutation can be extremely valuable to study; yet the biomarker...
Faggiano, Pompilio; Pirillo, Angela; Griffo, Raffaele; Ambrosetti, Marco; Pedretti, Roberto; Scorcu, Giampaolo; Werren, Marika; Febo, Oreste; Malfatto, Gabriella; Favretto, Giuseppe; Sarullo, Filippo; Antonini-Canterin, Francesco; Zobbi, Gianni; Temporelli, Pierluigi; Catapano, Alberico L
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low density lipoprotein cholesterol (LDL-C) predisposing to premature cardiovascular disease. Its prevalence varies and has been estimated around 1 in 200-500. The Heredity survey evaluated the prevalence of potential FH and the therapeutic approaches among patients with established coronary artery disease (CAD) or peripheral artery disease (PAD) in which it is less well documented. Data were collected in patients admitted to programs of rehabilitation and secondary prevention in Italy. Potential FH was estimated using Dutch Lipid Clinic Network (DLCN) criteria. Potential FH was defined as having a total score≥6. Among the 1438 consecutive patients evaluated, the prevalence of potential FH was 3.7%. The prevalence was inversely related to age, with a putative prevalence of 1:10 in those with Definite FH (DLCN score>8) had the highest percentages of patients after an ACS (75% vs 52.5% in the whole study population). At discharge, most patients were on high intensity statin therapy, but despite this, potential FH group still had a higher percentage of patients with LDL-C levels not at target and having a distance from the target higher than 50%. Among patients with established coronary heart disease, the prevalence of potential FH is higher than in the general population; the results suggest that a correct identification of potential FH, especially in younger patients, may help to better manage their high cardiovascular risk. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.
Sigala-Robles, R; Aguayo-Patrón, S V; Calderón de la Barca, A M
Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated. The HLA-DQ2/DQ8 haplotypes were genotyped through qPCR testing and the IgA anti-gliadin and anti-transglutaminase antibodies were quantified using the ELISA test. Twelve close-living maternal relatives of the index case participated in the study. Eight of them presented with the HLA-DQ2 haplotype, inherited from the grandfather, and 7/12 and 9/12 were positive for IgA anti-gliadin and IgA anti-transglutaminase antibodies, respectively. The main intestinal symptoms stated by the participants were abdominal bloating, excess flatulence, constipation, and gastroesophageal reflux. The most frequent extra-intestinal symptoms were fatigue, stress, and anxiety. In addition, 6/13 participants had bronchial asthma. The extended family living in close proximity of one another shared a genetic predisposition, environmental conditions, and asthma, which could have predisposed them to celiac disease. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.
De Backer, Charlotte J S
The aim of this study is to investigate if reported childhood food habits predict the food habits of students at present. Questions addressed are: does the memory of childhood family meals promote commensality among students? Does the memory of (grand)parents' cooking influence students' cooking? And, is there still a gender difference in passing on everyday cooking skills? Using a cross-sectional survey, 104 students were asked about their current eating and cooking habits, and their eating habits and the cooking behavior of their (grand)parents during their childhood. Results show that frequencies in reported childhood family meals predict frequencies of students' commensality at present. The effects appear for breakfast and dinner, and stay within the same meal: recalled childhood family breakfasts predict current breakfast commensality, recalled childhood family dinners predict current dinner commensality. In terms of recalled cookery of (grand)parents and the use of family recipes a matrilineal dominance can be observed. Mothers are most influential, and maternal grandmothers outscore paternal grandmothers. Yet, fathers' childhood cooking did not pass unnoticed either. They seem to influence male students' cookery. Overall, in a life-stage of transgression students appear to maintain recalled childhood food rituals. Suggestions are discussed to further validate these results. Copyright © 2013 Elsevier Ltd. All rights reserved.
Santos, Isabel Nascimento Dos; Damião, Jorginete de Jesus; Fonseca, Maria de Jesus Mendes da; Cople-Rodrigues, Cláudia Dos Santos; Aguiar, Odaleia Barbosa de
To examine the associations between food insecurity (IA) and social support in families of children with sickle-cell disease (DF). This cross-sectional study in families of 190 children from five to nine years old in follow-up at a hematology referral hospital in Rio de Janeiro State. IA was measured using the Brazilian food insecurity scale and social support was measured using the Brazilian version of the MOS social support survey instrument. The relation between IA and social support was analyzed by way of a multinomial logistic model. There was IA in 62.2% of the families, in moderate and severe form in, respectively, 11.1% and 7.9% of cases. In families of children with DF, levels of mild and severe food insecurity (IALe and IAGr) were found to relate inversely to levels of social support in the following dimensions: informational support (IALe OR=0.98; 95% CI 0.96-0.99 and IAGr OR=0.95; 95% CI 0.92-0.98); social interaction (IALe OR=0.98; 95% CI 0.96-0.99 and IAGr OR=0.96; 95% CI 0.93-0.99) and tangible social support (IALe OR=0.97; 95% CI 0.96-0.99 and IAGr OR=0.97; 95% CI 0.94-0.99). Considering the positive effects of social support on IA, public policies should be encouraged to assure food and nutritional security and social assistance for care for people with DF. Also, social support groups for people with DF should be strengthened. Copyright © 2018. Published by Elsevier Editora Ltda.
Josep Solves Almela
Full Text Available This report presents the analysis of how Spanish mass media dealt with the so-called rare deseases during the months of April, May and June of 2014. The report has the same general objective of the first one for the previous three months: understand how rare diseases are presented in the Spanish media and, correspondingly, how that media representation evolves. In this report, the data of the first trimester is compared to the second one.
Canizares, Claudio; Araujo, Ivan; Flores, Marlon; Guerrero, Patricia; Sanchez, Mayra
We report a case of Hodgkin's nodular sclerosis disease that presents moderate anemia and lymph node enlargement with a massive infiltrate to the bone marrow. It is rare for these patients to develop such an infiltrate, which give a bad prognosis. The treatment recommended in stage I is Radiotherapy and chemotherapy. (The author)
Eales' disease is a retinal vasculopathy of unknown origin. Ischaemic step associated retinal perivasculitis. Neovascularisation step after the previous one, characterised by vitreous haemorrhage in relation with retinal neo vessels. This observation presents the first reported case of this pathology in Brazzaville. A man of 32 ...
Alejandro J. Caraballo H.
Full Text Available A case of Creutzfeldt-Jakob disease (CJD in a 32 year old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs, death ocurred after 13 months. The diagnosis of CJD was confirmed by CT and neuropathological studies. This is the first report of CJD occurring in Venezuela.
Depla, A. C.; Bartelsman, J. F.; Mulder, C. J.; Tytgat, G. N.
Patients with monosymptomatic celiac disease (CD) can escape diagnosis for a long period. Anemia is a common finding in CD, although anemia as the sole symptom is relatively unknown. We report on three patients who presented with iron deficiency anemia and no other symptom, in whom CD was considered
Guthrie, Scott O.; Knowles, Paul; Marshall, Robert; Burton, Edward M.
We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD. (orig.)
Cohen, Oren S; Chapman, Joab; Korczyn, Amos D; Siaw, Oliver L; Warman-Alaluf, Naama; Nitsan, Zeev; Appel, Shmuel; Kahana, Esther; Rosenmann, Hanna; Hoffmann, Chen
The use of diffusion MRI improved the accuracy of diagnosis in Creutzfeldt-Jakob disease (CJD) and expanded our knowledge of the changes occurring in the brain during the disease. The aim of this study was to test whether in patients with E200K familial CJD (fCJD) the clinical severity correlates with the disease burden as reflected by the extent of cortical involvement in DWI MRI. Consecutive fCJD patients were examined by a neurologist who performed several tests including the CJD neurological scale (CJD-NS), MiniMental status examination (MMSE), Frontal Assessment Battery (FAB), NIH Stroke Scale (NIHSS), and the expanded disability status scale (EDSS). A simultaneously acquired MRI was analyzed by measuring the extent of cortical involvement in the DWI axial sequence. Correlations were tested for using Pearson test. Fifty-two fCJD patients (35 males, mean age 59.4 ± 5.7 years) were recruited to the study. Significant negative correlation was found between the extent of cortical involvement and the cognitive performance of the patients as reflected by their MMSE and FAB scores. In addition, a significant positive correlation was found between the MRI and the clinical disease severity scales CJD-NS and EDSS. The correlation between clinical scales of severity and cognitive dysfunction and the disease burden confirms the reliability of the CJD-NS scale. Further studies are warranted to examine whether MRI may serve not only for diagnosis but also as a biomarker for follow-up of disease progression and the efficacy of potential treatments.
Substance Abuse and Mental Health Services Administration, 2010
This report to Congress provides critical information about the Comprehensive Community Mental Health Services for Children and their Families Program (CMHI), including the characteristics of children, youth, and families as they enter the CMHI; the outcomes attained for children and youth, and their caregivers and families after entry into the…
Full Text Available Grover's disease is a transient acantholytic dermatosis of unknown cause, manifesting clinically as a papular skin eruption that is usually located on the anterior chest and abdomen. Histologically characterized by an acantholytic pattern, it has been associated with numerous disorders, including hematologic malignancies, chronic renal failure, and HIV infection, as well as with chemotherapy and bone marrow and/or kidney transplant. Evaluation of followup and treatment is often complicated by spontaneous remission and the occasionally fluctuant course of the disease. Here we report the case of a patient with sudden onset of Grover's disease after heart transplantation. To the best of our knowledge, this is the first observation of Grover's disease as diagnosed after heart transplantation.
Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina
Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171
Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina
Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.
Mejnert Jørgensen, Trine; Wemmelund, Holger; Green, Anders
Title: Abdominal aortic aneurysms no not develop more aggressively among patients with a positive family history of the disease Authors: Trine M. M. Joergensen, Holger Wemmelund, Anders Green, Jes Lindholt, Kim Houlind. Introduction: It is well known, that a family history of abdominal aortic...... aneurysm (AAA) strongly increases the risk of developing AAA, but it is still uncertain whether familial AAA’s develops differently than non-familial AAA’s. Objectives: To investigate whether familial AAA’s develop more aggressively than non-familial AAA’s by looking at growth rate, risk of surgery...... and rupture, as well as the size of the aneurysm at the time of diagnosis and the patient´s age at the time of operation, rupture and diagnosis. Design: Observational retrospective longitudinal study Materials: 318 patients (273 men and 45 women) with AAA diagnosed between 1996-2008 in Jutland, Denmark...
Full Text Available Alberto Leite, Narciso Oliveira, Manuela RochaInternal Medicine Department, Hospital de Braga, PortugalAbstract: McArdle disease (glycogen storage disease type V is a pure myopathy caused by an inherited deficit of myophosphorylase. The disease exhibits clinical heterogeneity, but patients typically experience exercise intolerance, acute crises of early fatigue, and contractures, sometimes with rhabdomyolysis and myoglobinuria, triggered by static muscle contractions or dynamic exercise. We present the case of a 54-year-old man with a lifelong history of fatigability, worsening on exertion. Laboratory evaluation revealed significant elevations in levels of creatine kinase (7924 U/L, lactate dehydrogenase (624 U/L, and myoglobulin (671 ng/mL. A muscle biopsy confirmed the presence of McArdle disease. This case report illustrates how, due to embarrassment, the patient hid his symptoms for many years and was eventually extremely relieved and “liberated” once McArdle disease was diagnosed 40 years later.Keywords: McArdle disease, glycogen storage disease, myophosphorylase
Full Text Available Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12. The gene encodes SERCA2 ATPase, an enzyme responsible for the metabolism of calcium ions in the endoplasmic reticulum. Darier’s disease is characterized by small brown hyperkeratotic papules which appear already in childhood or early adolescence. Skin lesions are located primarily in seborrhoeic areas. In addition to typical skin eruptions, the clinical picture may include involvement of the nails and mucous membranes. The histopathological pattern is characterized by the coexistence of two abnormalities: acantholysis and dyskeratosis. Objective . To present and discuss a case of unilateral Darier’s disease diagnosed and treated at our medical centre. Case report . We present the case of a 46-year old woman with Darier’s disease manifesting as skin lesions in the form of typical hyperkeratotic papules localized on the left part of the trunk and on left-side limbs. The diagnosis was made on the basis of clinical features and histopathological findings. A good therapeutic effect was achieved after introducing treatment with acitretin at a dose of 25 mg/day. Conclusions . The case presented is interesting because of the rarity of unilateral Darier’s disease.
de Almeida, Fernando Antonio; Ciambelli, Giuliano Serafino; Bertoco, André Luz; Jurado, Marcelo Mai; Siqueira, Guilherme Vasconcelos; Bernardo, Eder Augusto; Pavan, Maria Valeria; Gianini, Reinaldo José
In Brazil hypertension and type 2 diabetes mellitus are responsible for 60% of cases of end-stage renal disease in renal replacement therapy. In the United States studies have identified family clustering of chronic kidney disease, predominantly in African-Americans. A single Brazilian study observed family clustering among patients with chronic kidney disease when compared with hospitalized patients with normal renal function. This article aims to assess whether there is family clustering of chronic kidney disease in relatives of individuals in renal replacement therapy caused by hypertension and/or diabetes mellitus. A case-control study with 336 patients in renal replacement therapy with diabetes mellitus or hypertension for at least 5 years (cases) and a control matched sample group of individuals with hypertension or diabetes mellitus and normal renal function (n = 389). Individuals in renal replacement therapy (cases) had a ratio of 2.35 (95% CI 1.42-3.89, p hypertension or diabetes mellitus).
Andarva, Monavvar; Jamshidi, Javad; Ghaedi, Hamid; Daftarian, Narsis; Emamalizadeh, Babak; Alehabib, Elham; Taghavi, Shaghyegh; Pouriran, Ramin; Darvish, Hossein
Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. A GG dinucleotide insertion in exon 3 (c.240_241insGG) of NDP was detected in all patients. The mutation caused a frameshift and an early stop codon (p.Phe81Glyfs*23). A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease. © 2017 Optometry Australia.
Hu, Sheng Shou; Kong, Ling Zhi; Gao, Run Lin; Zhu, Man Lu; Wang, Wen; Wang, Yong Jun; Wu, Zhao Su; Chen, Wei Wei; Liu, Ming Bo
Major and profound changes have taken place in China over the past 30 years. Rapid socioeconomic progress has exerted a great impact on lifestyle, ranging from food, clothing, working and living conditions, and means of transportation to leisure activities and entertainment. At the same time, new health problems have emerged, and health services are facing new challenges. Presently, cardiovascular diseases (CVD) are among the top health problems of the Chinese people, and pose a serious challenge to all engaged in the prevention and control of these diseases. An epidemic of CVD in China is emerging as a result of lifestyle changes, urbanization and longevity. Both national policy decision-making and medical practice urgently need an authoritative report which comprehensively reflects the trends in the epidemic of CVD and current preventive measures. Since 2005, guided by the Bureau of Disease Prevention of the Ministry of Health of the People's Republic of China and the National Center for Cardiovascular Diseases of China, nationwide experts in the fields of epidemiology, clinical medicine and health economics in the realms of CVD, cerebrovascular disease, diabetes and chronic kidney disease, completed the Report on Cardiovascular Diseases in China every year. The report aims to provide a timely review of the trend of the epidemic and to assess the progress of prevention and control of CVD. In addition, as the report is authoritative, representative and readable, it will become an information platform in the CVD field and an important reference book for government, academic institutes, medical organizations and clinical physicians. This publication is expected to play a positive role in the prevention and control of CVD in China. We present an abstract from the Report on Cardiovascular Diseases in China (2010), including trends in CVD, morbidity and mortality of major CVDs, up-to-date assessment of risk factors, as well as health resources for CVD, and a profile of
Prevalencia aumentada de enfermedad celiaca en familiares de primer y segundo grado: descripción de una familia con 19 miembros estudiados Increased prevalence of celiac disease in first-grade relatives: A report of a family with 19 studied members
triggered by the ingestion of gluten, a substance present in most cereals, and that affects genetically predisposed individuals. As a result, this condition is clearly familial, and mainly associated with HLA class II markers. Objectives: in this work we set out to analyze the prevalence of CD in an extensive family based on an index subject who had already died from this disease a few years ago, where CD had been complicated by the development of a small-bowel malignancy, namely an adenocarcinoma. Methods: nineteen members were studied. They all were subjected to a diagnostic protocol including a detailed medical history, hemogram, coagulation tests, and blood biochemistry (including liver function tests, serum iron metabolism, circulating folic acid and vitamin B12 levels, thyroid function tests, tissue transglutaminase measurement, and genetic markers (DQ2 and DQ8. Suspect cases underwent gastroscopy plus multiple duodenal biopsy for confirmation. Results: overall we encountered CD in 9/19 studied members, which represents 47.4% with the following distribution according to degree of kinship -four of seven siblings (57%; one of three children (33.3%; three of eight nephews and nieces (37.5%, and the only grandnephew, who was 9 years old. Conclusions: from all this it may be seen that family studies are needed every time a patient is diagnosed with celiac disease; these studies should include both first- and second-degree relatives, given the high prevalence encountered and the fact that these tests are relatively straighforward to perform.
Bailey, Jacqueline M; Hansen, Vibeke; Wye, Paula M; Wiggers, John H; Bartlem, Kate M; Bowman, Jennifer A
People with a mental illness experience greater chronic disease morbidity and mortality, and associated reduced life expectancy, compared to those without such an illness. A higher prevalence of chronic disease risk behaviours (inadequate nutrition, inadequate physical activity, tobacco smoking, and harmful alcohol consumption) is experienced by this population. Family carers have the potential to support change in such behaviours among those they care for with a mental illness. This study aimed to explore family carers': 1) experiences in addressing the chronic disease risk behaviours of their family members; 2) existing barriers to addressing such behaviours; and 3) perceptions of potential strategies to assist them to provide risk behaviour change support. A qualitative study of four focus groups (n = 31), using a semi-structured interview schedule, was conducted with carers of people with a mental illness in New South Wales, Australia from January 2015 to February 2016. An inductive thematic analysis was employed to explore the experience of carers in addressing the chronic disease risk behaviours. Two main themes were identified in family carers' report of their experiences: firstly, that health behaviours were salient concerns for carers and that they were engaged in providing support, and secondly that they perceived a bidirectional relationship between health behaviours and mental well-being. Key barriers to addressing behaviours were: a need to attend to carers' own well-being; defensiveness on behalf of the family member; and not residing with their family member; with other behaviour-specific barriers also identified. Discussion around strategies which would assist carers in providing support for health risk behaviours identified a need for improved communication and collaboration between carers and health services accessed by their family members. Additional support from general and mental health services accessed by family members is desired to
Full Text Available Abstract Background We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2-related Parkinson's disease (PD in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S, is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD. Methods A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample. Results Thirty-one out of 509 families with multiple cases of PD (6.1% were found to have 58 LRRK2 mutation carriers (6.4%. Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families. Conclusion Lifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility
Fernandez Dapica, M P; Gómez-Reino, J J
We have found in our clinic a 28.1% prevalence of familial chondrocalcinosis among 149 family members of 32 patients with calcium pyrophosphate dihydrate deposition disease. The clinical and radiological characteristics of these familial chondrocalcinosis patients were similar to those of the Chiloes with familial chondrocalcinosis previously reported. No significant clinical or radiological differences were detected between our sporadic and familial chondrocalcinosis patients. Our findings support the hypothesis that the Chiloes familial chondrocalcinosis was carried to Chile by Spanish immigrants.
Staci D. Bilbo
Full Text Available Several lines of evidence support the view that autism is a typical member of a large family of immune-related, noninfectious, chronic diseases associated with postindustrial society. This family of diseases includes a wide range of inflammatory, allergic, and autoimmune diseases and results from consequences of genetic/culture mismatches which profoundly destabilize the immune system. Principle among these consequences is depletion of important components, particularly helminths, from the ecosystem of the human body, the human biome. Autism shares a wide range of features in common with this family of diseases, including the contribution of genetics/epigenetics, the identification of disease-inducing triggers, the apparent role of immunity in pathogenesis, high prevalence, complex etiologies and manifestations, and potentially some aspects of epidemiology. Fortunately, using available resources and technology, modern medicine has the potential to effectively reconstitute the human biome, thus treating or even avoiding altogether the consequences of genetic/cultural mismatches which underpin this entire family of disease. Thus, if indeed autism is an epidemic of postindustrial society associated with immune hypersensitivity, we can expect that the disease is readily preventable.
Yurube, Takashi; Kakutani, Kenichiro; Okamoto, Koji; Manabe, Michihiko; Maeno, Koichiro; Yoshikawa, Masaho; Sha, Norihide; Kuroda, Ryosuke; Nishida, Kotaro
Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complained of back pain related to sports activities. Clinical, radiographic, and computed tomographic examinations identified spondylolysis at L4 and L5 in all these boys. The father experienced long-term back pain and had spondylolisthesis at L4-L5 and healed spondylolysis at L5. The daughter and mother did not show any lumbar spondylolysis. The frequent development of spondylolysis at L4, a rarely affected segment, in four of six family members (66.7%) support that lumbar spondylolysis has an underlying genetic etiology, primarily autosomal dominant inheritance.
This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.
Full Text Available Abstract Background Adolescent pregnancy has significant health and socio-economic consequences for women, their families and communities. Efforts to prevent too-early pregnancy rely on accurate information about adolescents' knowledge, behaviours and access to family planning, however available data are limited in some settings. Demographic and Health Survey (DHS reports are recognised as providing nationally representative data that are accessible to policymakers and programmers. This paper reviews DHS reports for low and lower middle income countries in East Asia and the Pacific to determine what information regarding adolescent fertility and family planning is available, and summarises key findings. Methods The most recent DHS reports were sought for the 33 low and lower middle income countries in the East Asia and Pacific region as defined by UNICEF and World Bank. Age-disaggregated data for all indicators relevant to fertility and current use, knowledge and access to family planning information and services were sought to identify accessible information. Reported data were analysed using an Excel database to determine outcomes for adolescents and compare with adult women. Results DHS reports were available for eleven countries: Cambodia, Indonesia, Marshall Islands, Nauru, Papua New Guinea, Philippines, Samoa, Solomon Islands, Timor-Leste, Tuvalu and Vietnam. Twenty seven of 40 relevant DHS indicators reported outcomes for adolescent women aged 15-19 years. There were limited data for unmarried adolescents. A significant proportion of women commence sexual activity and childbearing during adolescence in the context of low contraceptive prevalence and high unmet need for contraception. Adolescent women have lower use of contraception, poorer knowledge of family planning and less access to information and services than adult women. Conclusion DHS reports provide useful and accessible data, however, they are limited by the failure to report
Ilha, Silomar; Santos, Silvana Sidney Costa; Backes, Dirce Stein; Barros, Edaiane Joana Lima; Pelzer, Marlene Teda; Costenaro, Regina Gema Santini
To describe the contributions of the Integrated Multidisciplinary Care Group for Caregivers of Individuals with Alzheimer's Disease as an educational and care (geron)technology in the context of Alzheimer's disease in elderly individuals from the perspective of family members/caregivers. Exploratory, descriptive study with a qualitative approach conducted with 13 family members/caregivers of elderly people participating in the support group of a university institution of the state of Rio Grande do Sul, Brazil. Data collected between January and April 2016 through a semi-structured interview were submitted to discursive textual analysis. Family members/caregivers pointed out education and care as contributions of the group; education for care and for the future; exchange, socialization, and development of knowledge through the range of knowledge existing in the Group. The Group contributes as a (geron)technology of care and education for care in which knowledge is built and applied in practice, supporting the experienced disorders and improving the quality of care provided for elderly individuals with Alzheimer's disease. Descrever as contribuições do Grupo de Assistência Multidisciplinar Integrada aos Cuidadores de Pessoas com a Doença de Alzheimer como (geronto)tecnologia cuidativo-educacional no contexto da doença de Alzheimer em pessoas idosas, na perspectiva de familiares/cuidadores. Pesquisa exploratório-descritiva, qualitativa, realizada com 13 familiares/cuidadores de pessoas idosas, participantes do grupo de apoio de uma instituição universitária do Rio Grande do Sul, Brasil. Os dados coletados entre janeiro a abril/2016, com uma entrevista semiestruturada, foram submetidos à análise textual discursiva. Os familiares/cuidadores referiram como contribuições do Grupo a educação e o cuidado; a educação para o cuidado e para o futuro; a troca, socialização e construção do conhecimento por meio dos diversos saberes existentes no Grupo. O
Altınay Göksel Karatepe
Full Text Available Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3 or not (type 1. In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.
Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K
Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.
Szaruga, Maria; Veugelen, Sarah; Benurwar, Manasi; Lismont, Sam; Sepulveda-Falla, Diego; Lleo, Alberto; Ryan, Natalie S.; Lashley, Tammaryn; Fox, Nick C.; Murayama, Shigeo; Gijsen, Harrie
Presenilin (PSEN) pathogenic mutations cause familial Alzheimer’s disease (AD [FAD]) in an autosomal-dominant manner. The extent to which the healthy and diseased alleles influence each other to cause neurodegeneration remains unclear. In this study, we assessed γ-secretase activity in brain samples from 15 nondemented subjects, 22 FAD patients harboring nine different mutations in PSEN1, and 11 sporadic AD (SAD) patients. FAD and control brain samples had similar overall γ-secretase activity levels, and therefore, loss of overall (endopeptidase) γ-secretase function cannot be an essential part of the pathogenic mechanism. In contrast, impaired carboxypeptidase-like activity (γ-secretase dysfunction) is a constant feature in all FAD brains. Significantly, we demonstrate that pharmacological activation of the carboxypeptidase-like γ-secretase activity with γ-secretase modulators alleviates the mutant PSEN pathogenic effects. Most SAD cases display normal endo- and carboxypeptidase-like γ-secretase activities. However and interestingly, a few SAD patient samples display γ-secretase dysfunction, suggesting that γ-secretase may play a role in some SAD cases. In conclusion, our study highlights qualitative shifts in amyloid-β (Aβ) profiles as the common denominator in FAD and supports a model in which the healthy allele contributes with normal Aβ products and the diseased allele generates longer aggregation-prone peptides that act as seeds inducing toxic amyloid conformations. PMID:26481686
Giladi, Nir; Manor, Yael; Hilel, Ariela; Gurevich, Tanya
Parkinson's disease (PD) is a chronic progressive neurodegenerative and multidimensional disease that involves a range of disabling motor and nonmotor symptoms. These symptoms can have a major impact on the quality of life of PD patients. The focus of this article is to stress the importance of the interdisciplinary team intervention approach in the treatment of patients with PD. The team approach uses experts in PD from different health care professions, including a neurologist, a nurse, a speech and language therapist, a physiotherapist, a social worker, a psychiatrist, an occupational therapist, a sexologist, and a dietician. The major aim of the team and of teamwork is to provide professional care in all motor and nonmotor aspects of PD throughout the course of the disease. There are different models of multidisciplinary teams: inpatient facility, community rehabilitation facility, and synchronized multiprofessional treatment in the community. The Tel Aviv Sourasky Medical Center model of interdisciplinary care was designed to create a coordinated multidisciplinary team in the Movement Disorders Unit. The role of each team member and their professional objective are described. Their collaboration is by design a promotion of a team goal for maintaining and enhancing the quality of life of PD patients and their families.
Wilke, Scott A.; Raam, Tara; Antonios, Joseph K.; Bushong, Eric A.; Koo, Edward H.; Ellisman, Mark H.; Ghosh, Anirvan
The earliest stages of Alzheimer's disease (AD) are characterized by deficits in memory and cognition indicating hippocampal pathology. While it is now recognized that synapse dysfunction precedes the hallmark pathological findings of AD, it is unclear if specific hippocampal synapses are particularly vulnerable. Since the mossy fiber (MF) synapse between dentate gyrus (DG) and CA3 regions underlies critical functions disrupted in AD, we utilized serial block-face electron microscopy (SBEM) to analyze MF microcircuitry in a mouse model of familial Alzheimer's disease (FAD). FAD mutant MF terminal complexes were severely disrupted compared to control – they were smaller, contacted fewer postsynaptic spines and had greater numbers of presynaptic filopodial processes. Multi-headed CA3 dendritic spines in the FAD mutant condition were reduced in complexity and had significantly smaller sites of synaptic contact. Significantly, there was no change in the volume of classical dendritic spines at neighboring inputs to CA3 neurons suggesting input-specific defects in the early course of AD related pathology. These data indicate a specific vulnerability of the DG-CA3 network in AD pathogenesis and demonstrate the utility of SBEM to assess circuit specific alterations in mouse models of human disease. PMID:24454724
Rotheram-Borus, Mary Jane; Tomlinson, Mark; Davis, Emily
As global donors shift their efforts from infectious diseases to non-communicable diseases (NCD), it is critical to capitalize on our prior mistakes and successes. Policy makers and public health administrators are often looking for magic bullets: drugs or treatments to eradicate disease. Yet, each potential magic bullet requires consistent, daily implementation and adherence to a new set of habits to actually work. Families' and communities' daily, interlocking routines will be the battlefield on which scientific and technological breakthroughs will be implemented and succeed or not. Currently, there are many evidence-based interventions (EBI) which have been demonstrated to shift specific habits which account for most NCD (eating, drinking, moving, and smoking). Yet, securing sustained uptake of these programs is rare - suggesting different intervention strategies are needed. Structural changes, policy nudges, and partnerships with private enterprise may be able to shift the health behaviors of more citizens faster and at a lower cost than existing EBI. Addressing concurrent risk and protective factors at the community level and intervening to shape new cultural routines may be useful to reduce NCD.
Tan, J; Tay, J S; Wong, Y C; Kham, S K; Bte Abd Aziz, N; Teo, S H; Wong, H B
Hb Q (alpha 74Asp-His) results from a mutation in the alpha-gene such that abnormal alpha Q-chains are synthesized. The alpha Q-chains combine with the normal Beta A-chains to form abnormal Hb alpha 2Q beta 2A (Hb Q). Hb Q-H disease is rare, and has been reported only in the Chinese. We report here a Chinese family, were the mother diagnosed with Hb Q-H disease and the father with Hb E heterozygosity and a child with Hb Q-E-thalassemia. Thalassemia screening of the mother's blood revealed a Hb level of 6.8g/dl with low MCV and MCH. Her blood film was indicative of thalassemia. Cellulose acetate electrophoresis showed Hb H and Hb Q with the absence of Hb A. Globin chain biosynthesis was carried out and alpha Q- and beta-chains were detected. Normal alpha- chains were absent. Digestion of the mother's DNA with Bam HI and Bgl II followed by hybridization with the 1.5 kb alpha-Pst probe showed a two alpha-gene deletion on one chromosome and the -alpha Q chain mutant with the -alpha 4.2 defect on the other chromosome. DNA amplification studies indicated the two-gene deletion to be of the -SEA/ defect. The patient was concluded to possess Hb Q-H disease (--SEA/-alpha 4.2Q). Cellulose acetate electrophoresis of the father's blood showed the presence of Hb A, F and E. Molecular analysis of the father's DNA confirmed an intact set of alpha-genes (alpha alpha/alpha alpha). Globin chain biosynthesis of fetal blood of their child showed gamma, beta A, beta E, alpha A and alpha Q-chains. Molecular analysis of the child's DNA showed one alpha-gene deletion, thus giving a genotype of alpha alpha/-alpha 4.2Q beta beta E.
Full Text Available Abstract Background Prior studies on the impact of problem gambling in the family mainly include help-seeking populations with small numbers of participants. The objective of the present stratified probability sample study was to explore the epidemiology of problem gambling in the family in the general population. Methods Men and women 16–74 years-old randomly selected from the Norwegian national population database received an invitation to participate in this postal questionnaire study. The response rate was 36.1% (3,483/9,638. Given the lack of validated criteria, two survey questions ("Have you ever noticed that a close relative spent more and more money on gambling?" and "Have you ever experienced that a close relative lied to you about how much he/she gambles?" were extrapolated from the Lie/Bet Screen for pathological gambling. Respondents answering "yes" to both questions were defined as Concerned Significant Others (CSOs. Results Overall, 2.0% of the study population was defined as CSOs. Young age, female gender, and divorced marital status were factors positively associated with being a CSO. CSOs often reported to have experienced conflicts in the family related to gambling, worsening of the family's financial situation, and impaired mental and physical health. Conclusion Problematic gambling behaviour not only affects the gambling individual but also has a strong impact on the quality of life of family members.
Full Text Available 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 using Illumina-HumanOmni2.5-Beadchip and for coding sequence mutations in WS4 genes (EDN3, EDNRB, or SOX10 and in the main HSCR gene (RET. Confocal microscopy and immunoblotting were used to assess the functional impact of the mutations. A heterozygous A/G transition in EDNRB was identified in 4 affected and 3 unaffected individuals. While in EDNRB isoforms 1 and 2 (cellular receptor the transition results in the abolishment of translation initiation (M1V, in isoform 3 (only in the cytosol the replacement occurs at Met91 (M91V and is predicted benign. Another heterozygous transition (c.-248G/A; -predicted to affect translation efficiency- in the 5'-untranslated region of EDN3 (EDNRB ligand was detected in all affected individuals but not in healthy carriers of the EDNRB mutation. Also, a de novo CNVs encompassing DACH1 was identified in the patient with heterochromia iridum and HSCR Since the EDNRB and EDN3 variants only coexist in affected individuals, HSCR could be due to the joint effect of mutations in genes of the same pathway. Iris heterochromia could be due to an independent genetic event and would account for the additional phenotype within the family.
Alfaro, Noelia; Lázaro, Pablo; Gabriele, Giovanna; Garcia-Vicuña, Rosario; Jover, Juan Ángel; Sevilla, Jordi
To determine the perceptions, attitudes and experiences among family caregivers of patients with musculoskeletal diseases (MSD). Descriptive, exploratory, qualitative study. Two discussion groups were organized with family caregivers of MSD patients, representing the caregiver profile: gender (men/women) and age (31-45 years/46-65 years); and patient profiles: MSD type (rheumatoid arthritis/ankylosing spondylitis), work status (yes or no for the variables housewife, at least 3 episodes of sick leave, patients who abandoned their work, and patients with permanent work disability). A content analysis based on the Grounded Theory was done to detect and explore emerging categories. The emerging dimensions were: alterations in daily life activities, need for caregiver support, physical and psychological impact on the caregiver, characteristics of the patient, and several aspects of care. Relevant experiences mentioned were: the diagnosis of a MSD changes the patient and their family members' life affecting work, financial, social, psychological and physical spheres, making it necessary help for basic activities of daily living. Early age at onset or severe MSDs require dedication and effort on the part of caregivers which increases with time. This leads to a great emotional overload on the caregivers, which may be modulated by the support they receive when providing care. The primary consequences for caregivers are loss of purchasing power, work problems, social isolation and emotional stress. Programs for effective at-home support need to be developed with streamlined administrative processes to quickly classify the level of disability and provide official assistance. Copyright © 2012 Elsevier España, S.L. All rights reserved.
Full Text Available ABSTRACTIn the current work we performed a review of the Araceae family species traditionally used to treat malaria and its symptoms. The aim is to reveal the large number of antimalarial Araceae species used worldwide and their great unexplored potential as sources of antimalarial natural products. The SciFinder Scholar, Scielo, PubMed, ScienceDirect and Google books search engines were consulted. Forty-three records of 36 species and 23 genera of Araceae used for malaria and symptoms treatment were found. The neotropical genera Philodendron Schott and Anthurium Schott were the best represented for the use in the treatment of malaria, fevers, liver problems and headaches. Leaves and tubers were the most used parts and decoction was the most common preparation method. The extracts of Araceae species inhibit the in vitro growth of the human malaria parasite, the Plasmodium falciparum Welch, and significant median inhibitory concentrations (IC50 for extracts of guaimbê-sulcado (Rhaphidophora decursiva (Roxb. Schott, aninga (Montrichardia linifera (Arruda Schott, Culcasia lancifolia N.E. Br. and forest anchomanes (Anchomanes difformis (Blume Engl. have been reported demonstrating the antimalarial and cytotoxicity potential of the extracts and sub-fractions. In the only report about the antimalarial components of this family, the neolignan polysyphorin and the benzoperoxide rhaphidecurperoxin presented strong in vitro inhibition of the D6 and W2 strains of Plasmodiumfalciparum (IC50 = 368-540 ng/mL. No live study about antimalarial activity in animal models has been conducted on a species of Araceae. More bioguided chemical composition studies about the in vitro and also thein vivo antimalarial activity of the Araceae are needed in order to enhance the knowledge about the antimalarial potential of this family.