Pedigree
Christianity
Abnormalities, Multiple
Genetic Counseling
Morocco
Intellectual Disability
Marriage
Arabs
Dwarfism
Genetic Diseases, Inborn
Egypt
Chromosome Disorders
Genes, Dominant
Family Health
Genetics, Population
Mutation
Heterozygote
Microsatellite Repeats
Infant Mortality
Genetic Linkage
Extremely low values of serum leptin in children with congenital generalized lipoatrophy. (1/1305)
Congenital generalized lipoatrophy (CGL) is a syndrome with multiple clinical manifestations and complete atrophy of adipose tissue. The exact mechanism of this disease remains unknown. One hypothesis presupposes an abnormal development of adipocytes. Leptin, the adipocyte-specific product of the ob gene, acts as a regulatory factor of body weight. In children, as in adults, leptin levels are correlated with body mass index (BMI) and body fat mass. Some authors have demonstrated that adults with congenital or acquired generalized lipoatrophy have decreased leptin concentrations. In order to study serum leptin profile during childhood in this disease, we measured serum leptin concentrations in six children aged 5.5-11 years suffering from CGL, and investigated the relationship between metabolic parameters and the variations in leptin levels. Serum leptin concentrations (1.19+/-0.32 ng/ml (+/- S.D.)) were extremely low compared with those observed in normal children. No significant correlation was found with BMI, which is known to be one of the major determinants of serum leptin. Serum leptin values were significantly correlated with fasting insulin levels (r=0.83, P=0.024). In conclusion, extremely low leptin values measured in children with CGL could be regarded as one among other diagnostic parameters. However, the detectable levels observed in all of these children support the evidence that a small amount of body fat is likely to be present in these patients, despite complete subcutaneous lipoatrophy. Our data suggest that this small amount of adipose tissue could be metabolically active and, at least in part, sensitive to insulin. Further investigations are required to uncover the pathophysiological mechanisms of this syndrome, known to be commonly associated with insulin resistance. (+info)p53 and p16INK4A mutations during the progression of glomus tumor. (2/1305)
Glomus tumors are significantly rare tumors of carotid body. The great majority of these tumors are benign in character. Here we present two brothers with hereditary glomus jugulare tumor who had consanguineous parents. Radiotherapy was applied approximately 8 and 10 years ago for treatment in both cases. Eight years later, one of these cases came to our notice due to relapse. The mutation pattern of p53, p57KIP2, p16INK4A and p15NK4B genes which have roles in the cell cycle, was analyzed in tumor samples obtained from the two affected cases in the initial phase and from one of these cases at relapse. The DNA sample obtained from the case in initial diagnosis phase revealed no p53, p57KIP2, p16INK4A or p15INK4B mutation. He is still in remission phase. Despite the lack of p53, p57KIP2, p16INK4A and p15INK4B mutation at initial diagnosis the tumor DNA of the other case in relapse revealed p53 codon 243 (ATG-->ATC; met-->ile) and p16 codon 97 (GAC-->AAC; asp-->asn) missense point mutations. No loss of heterozygosity in p53 and p16INK4A was observed by microsatellite analysis of tumoral tissues in these cases. P53 and p16INK4A mutations observed in relapse phase were in conserved regions of both genes. No previous reports have been published with these mutations in glomus tumor during progression. The mutation observed in this case may due to radiotherapy. In spite of this possibility, the missense point mutations in conserved region of p53 and p16INK4A genes may indicate the role of p53 and p16INK4A in tumor progression of glomus tumors. (+info)The Dyggve-Melchior-Clausen syndrome. (3/1305)
Two new cases of Dyggve-Melchior-Clausen syndrome are described; they belong to the fourth family from Lebanon in which this disease has been recognized. There is no genealogical linkage between these four families. A particular feature in these cases is a striking rhizomelic shortness of the arms especially in one case. Clinical and radiological findings, progression of the skeletal changes are studied, along with the review of the cases in the literature. Cytological and biochemical data indicate that the DMC syndrome is not a mucopolysaccharidosis. (+info)A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (4/1305)
Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions. (+info)Generalised uridine diphosphate galactose-4-epimerase deficiency. (5/1305)
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features. The two older female patients have normal pubertal development. (+info)Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. (6/1305)
Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. We performed single-strand conformation and sequence analysis of the ERGIC-53 gene in 35 F5F8D families of different ethnic origins. We identified 13 distinct mutations accounting for 52 of 70 mutant alleles. These were 3 splice site mutations, 6 insertions and deletions resulting in translational frameshifts, 3 nonsense codons, and elimination of the translation initiation codon. These mutations are predicted to result in synthesis of either a truncated protein product or no protein at all. This study revealed that F5F8D shows extensive allelic heterogeneity and all ERGIC-53 mutations resulting in F5F8D are "null." Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals. In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci. (+info)The orthopaedic aspects of multiple epiphyseal dysplasia. (7/1305)
Five cases of multiple epiphyseal dysplasia (MED) were treated from 1985-1996 at the Orthopaedics and Trauma Department of SSK Izmir Educational Hospital. Four patients were female and one was male. The pedigrees of the first two female patients had the same features of inter-related marriages. The patients have been followed up for 5.5-11 years (average of 7.5 years). Surgical operations were mostly required in the lower limbs. Problems in the hips required adductor myotomy, the Soutter procedure, total hip replacement, and pertrochanteric extension osteotomy. Management of the knees required supracondylar shortening and extension osteotomy of the femur, high tibial extension osteotomy, debridement of the knee joint with removal of osteophytes, ogleotomy of the patellar lengthening of the knee flexors and posterior capsulotomy. Interphalangeal arthrodesis for hammer toes, extension osteotomy of the head of the first metatarsals, and Kellers operation were carried out in the foot. In the upper limb decompression and anterior transposition of the ulnar nerve, debridement of the elbow joint, extension and valgus osteotomy of the distal radius, and extension osteotomy of the head of the first metacarpal were required. (+info)Infantile cystinosis in France: genetics, incidence, geographic distribution. (8/1305)
A national distribution of 66 French patients, from 49 sibships, has been studied. Segregation analysis, using the maximum likelihood method, was found to agree with the theoretical values expected in recessive autosomal inheritance. The birthplaces of these patients show an unequal geographic distribution of cystinosis, the incidence being higher in Western France. Compared with the total number of live births during the period 1959 to 1972, the minimum incidence of the condition in the province of Brittany is 1 per 25 909, and the gene frequency 0.0062. In the rest of France, the minimum incidence is 1 per 326,440 and the gene frequency 0.0018. Application of Dahlberg's formula gives a similar result. The mean inbreeding coefficient is 530 X 10(-5), a figure 23 times higher than the mean coefficient of France. An indirect test of inbreeding, the distance between parental birthplaces, was studied, first using the French administrative boundaries, second by using kilometers. This distance was constantly smaller for the parents of patients than for the parents of controls. Analysis of two erythrocyte polymorphisms (ABO and Rh) showed a large excess of group A patients when compared with overall French data. These findings are difficult to interpret on genetic grounds. The genetic reasons for the unequal geographic distribution of cystinosis in France are discussed. (+info)Multiple abnormalities in the medical field refer to the presence of two or more abnormal conditions or findings in a person's body or health status. These abnormalities can be related to various organs or systems in the body and can be caused by a variety of factors, including genetic disorders, infections, injuries, or chronic diseases. Examples of multiple abnormalities that may be seen in a medical setting include multiple birth defects, multiple tumors, multiple infections, or multiple chronic conditions such as diabetes, hypertension, and heart disease. The presence of multiple abnormalities can complicate diagnosis and treatment, as it may require a more comprehensive approach to identify the underlying causes and develop effective management plans.
Intellectual disability (ID) is a general term used to describe a range of conditions that affect cognitive functioning and adaptive behavior. It is characterized by significant limitations in intellectual functioning and adaptive behavior that occur during the developmental period, typically before the age of 18. Intellectual functioning refers to the ability to learn, reason, solve problems, and understand complex concepts. Adaptive behavior refers to the ability to function in daily life, including communication, social skills, and independent living skills. The severity of intellectual disability can vary widely, from mild to profound. People with mild intellectual disability may have some limitations in their cognitive and adaptive abilities, but they are still able to live independently and participate in many activities. People with profound intellectual disability, on the other hand, may have significant limitations in all areas of functioning and require extensive support and assistance. Intellectual disability can be caused by a variety of factors, including genetic disorders, brain injuries, infections, and exposure to toxins during pregnancy or early childhood. It is important to note that intellectual disability is not the same as mental illness or developmental delays, although these conditions may co-occur.
In the medical field, a syndrome is a set of symptoms and signs that occur together and suggest the presence of a particular disease or condition. A syndrome is often defined by a specific pattern of symptoms that are not caused by a single underlying disease, but rather by a combination of factors, such as genetic, environmental, or hormonal. For example, Down syndrome is a genetic disorder that is characterized by a specific set of physical and intellectual characteristics, such as a flattened facial profile, short stature, and intellectual disability. Similarly, the flu syndrome is a set of symptoms that occur together, such as fever, cough, sore throat, and body aches, that suggest the presence of an influenza virus infection. Diagnosing a syndrome involves identifying the specific set of symptoms and signs that are present, as well as ruling out other possible causes of those symptoms. Once a syndrome is diagnosed, it can help guide treatment and management of the underlying condition.
In the medical field, fetal death, also known as stillbirth, refers to the death of a fetus that occurs after 20 weeks of gestation. This means that the fetus has died before it is born, either spontaneously or as a result of medical intervention. Fetal death can occur for a variety of reasons, including genetic abnormalities, infections, maternal health problems, and complications during pregnancy such as placental abruption or preterm labor. In cases of fetal death, medical professionals will typically perform an autopsy to determine the cause of death and to rule out any potential medical conditions that may have contributed to the death. This information can be important for both the mother and the family, as it can help to identify any underlying health issues and prevent similar complications from occurring in future pregnancies.
Dwarfism is a medical condition characterized by short stature, which is defined as an adult height of 4 feet 10 inches (147 centimeters) or less for males and 4 feet 6 inches (137 centimeters) or less for females. Dwarfism can be caused by a variety of genetic and non-genetic factors, including chromosomal abnormalities, hormonal imbalances, and skeletal dysplasias. There are over 200 different types of dwarfism, each with its own specific genetic cause and set of symptoms. Some forms of dwarfism are inherited, while others are caused by random genetic mutations or environmental factors. Individuals with dwarfism may also experience other health problems, such as joint pain, vision and hearing problems, and an increased risk of certain medical conditions, such as diabetes and heart disease. Treatment for dwarfism typically involves addressing any underlying health issues and providing supportive care to help individuals with dwarfism live healthy, fulfilling lives. This may include physical therapy, orthopedic surgery, and hormone replacement therapy.
Inborn genetic diseases, also known as genetic disorders or hereditary diseases, are conditions that are caused by mutations or variations in an individual's DNA. These mutations can be inherited from one or both parents and can affect the normal functioning of the body's cells, tissues, and organs. Inborn genetic diseases can be classified into several categories, including single-gene disorders, chromosomal disorders, and multifactorial disorders. Single-gene disorders are caused by mutations in a single gene, while chromosomal disorders involve changes in the number or structure of chromosomes. Multifactorial disorders are caused by a combination of genetic and environmental factors. Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Down syndrome, and Turner syndrome. These diseases can have a wide range of symptoms and severity, and can affect various parts of the body, including the heart, lungs, brain, and skeletal system. Diagnosis of inborn genetic diseases typically involves a combination of medical history, physical examination, and genetic testing. Treatment options may include medications, surgery, and supportive care, depending on the specific disease and its severity.
In the medical field, congenital abnormalities refer to birth defects or anomalies that occur during fetal development and are present at birth. These abnormalities can affect any part of the body, including the heart, brain, spine, limbs, and organs. Congenital abnormalities can be caused by a variety of factors, including genetic mutations, environmental factors, infections during pregnancy, and exposure to certain medications or substances. Some congenital abnormalities may be inherited from parents, while others may occur spontaneously. The severity of congenital abnormalities can vary widely, ranging from minor physical deformities to life-threatening conditions that require immediate medical attention. Treatment options for congenital abnormalities depend on the specific condition and may include surgery, medication, therapy, or other interventions. Overall, congenital abnormalities are a significant health concern, and early detection and intervention can help improve outcomes for affected individuals.
Chromosome disorders are genetic conditions that occur when there is a change in the number or structure of chromosomes. Chromosomes are the structures that carry genetic information in the form of DNA. Each human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome disorders can be caused by a variety of factors, including errors that occur during cell division, exposure to certain chemicals or radiation, or inherited from a parent. Some chromosome disorders are caused by a deletion or duplication of a portion of a chromosome, while others are caused by an inversion or translocation of two chromosomes. Chromosome disorders can have a wide range of effects on an individual, depending on the specific disorder and the severity of the changes in the chromosomes. Some chromosome disorders can cause physical abnormalities, such as intellectual disability, developmental delays, and birth defects. Others can cause more subtle effects, such as an increased risk of certain medical conditions or an increased risk of certain types of cancer. There are many different types of chromosome disorders, including Down syndrome, Turner syndrome, Klinefelter syndrome, and Cri-du-chat syndrome. These disorders are typically diagnosed through genetic testing, such as karyotyping, which involves analyzing the chromosomes in a person's cells to look for abnormalities. Treatment for chromosome disorders may involve medical management, therapy, and support services to help individuals with the condition live as healthy and fulfilling lives as possible.
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Increasing Use and Impact of Family Health History in Medically Underserved Populations: Work in Progress | Blogs | CDC
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Recurrence of First Afebrile Unprovoked Seizure and Parental Consanguinity: A Hospital-Based Study.
Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan
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Family3
- Customary marital patterns in some communities, which include consanguinity, can affect genetic risk and make collection and use of family health history especially important. (cdc.gov)
- Family history was negative for any consanguinity, early deaths, or other diseases. (medscape.com)
- From the qualitative analysis of content, the results indicated that the participants considered family the persons who establish relationships based on emotional ties, not restricting their definition to consanguinity. (bvsalud.org)
Genetic1
- Customary marital patterns in some communities, which include consanguinity, can affect genetic risk and make collection and use of family health history especially important. (cdc.gov)
Parental consanguinity5
- Recurrence of First Afebrile Unprovoked Seizure and Parental Consanguinity: A Hospital-Based Study. (medscape.com)
- Children with parental consanguinity were almost 3 times more likely to develop a second attack of seizure compared to those without parental consanguinity (odds ratio [OR] = 2.785, 95% confidence interval [CI] = 1.216-6.378, P = .015) and patients who had a history of focal type of seizure were almost twice as likely to develop seizure recurrence (OR = 1.798, 95% CI = 1.013-3.193, P = .045). (medscape.com)
- Parental consanguinity and focal seizure were associated with the increased risk of recurrent attack. (medscape.com)
- This finding highlights the need for public education regarding the outcomes of parental consanguinity to improve the patient's quality of life. (medscape.com)
- Parental consanguinity was recorded in all families. (who.int)
Arabs2
Congenital1
- We determined the prevalence of congenital hypothyroidism and the rate of consanguinity among parents of hypothyroid neonates among 93 381 neonates born in 17 hospitals in Isfahan from May 2002 to April 2005. (who.int)
Association2
- Israel is the only country in the Middle East that has reported red reflex screening results, although association with consanguinity has not been reported (3). (who.int)
- Also, indicating the association of consanguinity and ocular diseases will be helpful in informing the public about risks of intermarriages. (who.int)